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  1. Book ; Online: An algorithm for detecting oscillatory behavior in discretized data

    Hsu, David / Hsu, Murielle / Huang, He / Montgomery, Jr, Erwin B.

    the damped-oscillator oscillator detector

    2007  

    Abstract: We present a simple algorithm for detecting oscillatory behavior in discrete data. The data is used as an input driving force acting on a set of simulated damped oscillators. By monitoring the energy of the simulated oscillators, we can detect ... ...

    Abstract We present a simple algorithm for detecting oscillatory behavior in discrete data. The data is used as an input driving force acting on a set of simulated damped oscillators. By monitoring the energy of the simulated oscillators, we can detect oscillatory behavior in data. In application to in vivo deep brain basal ganglia recordings, we found sharp peaks in the spectrum at 20 and 70 Hz. The algorithm is also compared to the conventional fast Fourier transform and circular statistics techniques using computer generated model data, and is found to be comparable to or better than fast Fourier transform in test cases. Circular statistics performed poorly in our tests.

    Comment: 20 pages, 6 figures
    Keywords Quantitative Biology - Quantitative Methods ; Quantitative Biology - Neurons and Cognition
    Publishing date 2007-08-09
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.

    Naik, Hetanshi / Overbey, Jessica R / Montgomery, Guy H / Winkel, Gary / Balwani, Manisha / Anderson, Karl E / Bissell, D Montgomery / Bonkovsky, Herbert L / Phillips, John D / Wang, Bruce / McGuire, Brendan / Keel, Siobán / Levy, Cynthia / Erwin, Angelika / Desnick, Robert J

    Genetics in medicine : official journal of the American College of Medical Genetics

    2019  Volume 22, Issue 3, Page(s) 590–597

    Abstract: Purpose: Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools ... ...

    Abstract Purpose: Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important domains.
    Methods: Baseline data from the Porphyrias Consortium's Longitudinal Study were obtained for 259 patients, including detailed disease and medical history data, and the following Patient-Reported Outcomes Measurement Information System (PROMIS) scales: anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles. Relationships between PROMIS scores and clinical and biochemical AIP features were explored.
    Results: PROMIS scores were significantly worse than the general population across all domains, except depression. Each domain discriminated well between asymptomatic and symptomatic patients with symptomatic patients having worse scores. Many important clinical variables like symptom frequency were significantly associated with domain scores in univariate analyses, showing responsiveness of the scales, specifically pain interference and fatigue. However, most regression models only explained ~20% of the variability observed in domain scores.
    Conclusion: Pain interference and fatigue were the most responsive scales in measuring QoL in this AIP cohort. Future studies should assess whether these scales capture longitudinal disease progression and treatment response.
    MeSH term(s) Adolescent ; Adult ; Aged ; Anxiety/epidemiology ; Depression/epidemiology ; Fatigue/epidemiology ; Female ; Heme/biosynthesis ; Heme/genetics ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Patient Reported Outcome Measures ; Porphyria, Acute Intermittent/epidemiology ; Porphyria, Acute Intermittent/genetics ; Porphyria, Acute Intermittent/pathology ; Quality of Life ; Severity of Illness Index ; Sleep Wake Disorders/epidemiology ; Young Adult
    Chemical Substances Heme (42VZT0U6YR)
    Language English
    Publishing date 2019-11-06
    Publishing country United States
    Document type Clinical Trial ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-019-0683-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  3. Article ; Online: Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.

    Saberi, Behnam / Naik, Hetanshi / Overbey, Jessica R / Erwin, Angelika L / Anderson, Karl E / Bissell, D Montgomery / Bonkovsky, Herbert L / Phillips, John D / Wang, Bruce / K Singal, Ashwani / M McGuire, Brendan / Desnick, Robert J / Balwani, Manisha

    Hepatology (Baltimore, Md.)

    2020  Volume 73, Issue 5, Page(s) 1736–1746

    Abstract: Background and aims: The risk for hepatocellular carcinoma (HCC) is increased in acute hepatic porphyrias (AHP). The aim of this study was to explore the clinicopathologic characteristics, outcomes, and frequency of HCC in patients with AHP in the ... ...

    Abstract Background and aims: The risk for hepatocellular carcinoma (HCC) is increased in acute hepatic porphyrias (AHP). The aim of this study was to explore the clinicopathologic characteristics, outcomes, and frequency of HCC in patients with AHP in the United States.
    Approach and results: This cross-sectional analysis evaluated patients with HCC in a multicenter, longitudinal study of AHP. Among 327 patients with AHP, 5 (1.5%) were diagnosed with HCC. Of the 5 HCC cases, 4 had acute intermittent porphyria and 1 had variegate porphyria, confirmed by biochemical and/or genetic testing. All patients were white females, with a median age of 27 years (range 21-75) at diagnosis. The median age at HCC diagnosis was 69 years (range 61-74). AHP was asymptomatic in 2 patients; 2 reported sporadic attacks; and 1 reported recurrent attacks (>4 attacks/year). All patients had a single HCC lesion on liver imaging that was 1.8-6.5 centimeters in diameter. Serum alpha fetoprotein levels were below 10 ng/mL in all 4 patients with available results. Four patients underwent liver resection, and 1 was treated with radioembolization. No significant inflammation or fibrosis was found in adjacent liver tissues of 3 patients who underwent liver resection. Two patients developed recurrence of HCC at 22 and 26 months following liver resection. All patients are alive with survival times from HCC diagnosis ranging from 26-153 months.
    Conclusion: In this U.S. study, 1.5% of patients with AHP had HCC. HCC in AHP occurred in the absence of cirrhosis, which contrasts with other chronic liver diseases. Patients with AHP, regardless of clinical attacks, should be screened for HCC, beginning at age 50. The pathogenesis of hepatocarcinogenesis in AHP is unknown and needs further investigation.
    MeSH term(s) Adult ; Age Factors ; Aged ; Carcinoma, Hepatocellular/epidemiology ; Carcinoma, Hepatocellular/etiology ; Carcinoma, Hepatocellular/pathology ; Cross-Sectional Studies ; Female ; Humans ; Liver Neoplasms/epidemiology ; Liver Neoplasms/etiology ; Liver Neoplasms/pathology ; Longitudinal Studies ; Middle Aged ; Porphyrias, Hepatic/complications ; Porphyrias, Hepatic/epidemiology ; Porphyrias, Hepatic/pathology ; United States/epidemiology ; Young Adult
    Language English
    Publishing date 2020-12-11
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural
    ZDB-ID 604603-4
    ISSN 1527-3350 ; 0270-9139
    ISSN (online) 1527-3350
    ISSN 0270-9139
    DOI 10.1002/hep.31460
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

    Tin, Adrienne / Marten, Jonathan / Halperin Kuhns, Victoria L / Li, Yong / Wuttke, Matthias / Kirsten, Holger / Sieber, Karsten B / Qiu, Chengxiang / Gorski, Mathias / Yu, Zhi / Giri, Ayush / Sveinbjornsson, Gardar / Li, Man / Chu, Audrey Y / Hoppmann, Anselm / O'Connor, Luke J / Prins, Bram / Nutile, Teresa / Noce, Damia /
    Akiyama, Masato / Cocca, Massimiliano / Ghasemi, Sahar / van der Most, Peter J / Horn, Katrin / Xu, Yizhe / Fuchsberger, Christian / Sedaghat, Sanaz / Afaq, Saima / Amin, Najaf / Ärnlöv, Johan / Bakker, Stephan J L / Bansal, Nisha / Baptista, Daniela / Bergmann, Sven / Biggs, Mary L / Biino, Ginevra / Boerwinkle, Eric / Bottinger, Erwin P / Boutin, Thibaud S / Brumat, Marco / Burkhardt, Ralph / Campana, Eric / Campbell, Archie / Campbell, Harry / Carroll, Robert J / Catamo, Eulalia / Chambers, John C / Ciullo, Marina / Concas, Maria Pina / Coresh, Josef / Corre, Tanguy / Cusi, Daniele / Felicita, Sala Cinzia / de Borst, Martin H / De Grandi, Alessandro / de Mutsert, Renée / de Vries, Aiko P J / Delgado, Graciela / Demirkan, Ayşe / Devuyst, Olivier / Dittrich, Katalin / Eckardt, Kai-Uwe / Ehret, Georg / Endlich, Karlhans / Evans, Michele K / Gansevoort, Ron T / Gasparini, Paolo / Giedraitis, Vilmantas / Gieger, Christian / Girotto, Giorgia / Gögele, Martin / Gordon, Scott D / Gudbjartsson, Daniel F / Gudnason, Vilmundur / Haller, Toomas / Hamet, Pavel / Harris, Tamara B / Hayward, Caroline / Hicks, Andrew A / Hofer, Edith / Holm, Hilma / Huang, Wei / Hutri-Kähönen, Nina / Hwang, Shih-Jen / Ikram, M Arfan / Lewis, Raychel M / Ingelsson, Erik / Jakobsdottir, Johanna / Jonsdottir, Ingileif / Jonsson, Helgi / Joshi, Peter K / Josyula, Navya Shilpa / Jung, Bettina / Kähönen, Mika / Kamatani, Yoichiro / Kanai, Masahiro / Kerr, Shona M / Kiess, Wieland / Kleber, Marcus E / Koenig, Wolfgang / Kooner, Jaspal S / Körner, Antje / Kovacs, Peter / Krämer, Bernhard K / Kronenberg, Florian / Kubo, Michiaki / Kühnel, Brigitte / La Bianca, Martina / Lange, Leslie A / Lehne, Benjamin / Lehtimäki, Terho / Liu, Jun / Loeffler, Markus / Loos, Ruth J F / Lyytikäinen, Leo-Pekka / Magi, Reedik / Mahajan, Anubha / Martin, Nicholas G / März, Winfried / Mascalzoni, Deborah / Matsuda, Koichi / Meisinger, Christa / Meitinger, Thomas / Metspalu, Andres / Milaneschi, Yuri / O'Donnell, Christopher J / Wilson, Otis D / Gaziano, J Michael / Mishra, Pashupati P / Mohlke, Karen L / Mononen, Nina / Montgomery, Grant W / Mook-Kanamori, Dennis O / Müller-Nurasyid, Martina / Nadkarni, Girish N / Nalls, Mike A / Nauck, Matthias / Nikus, Kjell / Ning, Boting / Nolte, Ilja M / Noordam, Raymond / O'Connell, Jeffrey R / Olafsson, Isleifur / Padmanabhan, Sandosh / Penninx, Brenda W J H / Perls, Thomas / Peters, Annette / Pirastu, Mario / Pirastu, Nicola / Pistis, Giorgio / Polasek, Ozren / Ponte, Belen / Porteous, David J / Poulain, Tanja / Preuss, Michael H / Rabelink, Ton J / Raffield, Laura M / Raitakari, Olli T / Rettig, Rainer / Rheinberger, Myriam / Rice, Kenneth M / Rizzi, Federica / Robino, Antonietta / Rudan, Igor / Krajcoviechova, Alena / Cifkova, Renata / Rueedi, Rico / Ruggiero, Daniela / Ryan, Kathleen A / Saba, Yasaman / Salvi, Erika / Schmidt, Helena / Schmidt, Reinhold / Shaffer, Christian M / Smith, Albert V / Smith, Blair H / Spracklen, Cassandra N / Strauch, Konstantin / Stumvoll, Michael / Sulem, Patrick / Tajuddin, Salman M / Teren, Andrej / Thiery, Joachim / Thio, Chris H L / Thorsteinsdottir, Unnur / Toniolo, Daniela / Tönjes, Anke / Tremblay, Johanne / Uitterlinden, André G / Vaccargiu, Simona / van der Harst, Pim / van Duijn, Cornelia M / Verweij, Niek / Völker, Uwe / Vollenweider, Peter / Waeber, Gerard / Waldenberger, Melanie / Whitfield, John B / Wild, Sarah H / Wilson, James F / Yang, Qiong / Zhang, Weihua / Zonderman, Alan B / Bochud, Murielle / Wilson, James G / Pendergrass, Sarah A / Ho, Kevin / Parsa, Afshin / Pramstaller, Peter P / Psaty, Bruce M / Böger, Carsten A / Snieder, Harold / Butterworth, Adam S / Okada, Yukinori / Edwards, Todd L / Stefansson, Kari / Susztak, Katalin / Scholz, Markus / Heid, Iris M / Hung, Adriana M / Teumer, Alexander / Pattaro, Cristian / Woodward, Owen M / Vitart, Veronique / Köttgen, Anna

    Nature genetics

    2019  Volume 51, Issue 10, Page(s) 1459–1474

    Abstract: Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously ... ...

    Abstract Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits.
    MeSH term(s) ATP Binding Cassette Transporter, Subfamily G, Member 2/genetics ; Cardiovascular Diseases/blood ; Cardiovascular Diseases/epidemiology ; Cardiovascular Diseases/genetics ; Cohort Studies ; Genetic Loci ; Genetic Markers ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Gout/blood ; Gout/epidemiology ; Gout/genetics ; Hepatocyte Nuclear Factor 1-alpha/genetics ; Hepatocyte Nuclear Factor 4/genetics ; Humans ; Kidney/metabolism ; Kidney/pathology ; Liver/metabolism ; Liver/pathology ; Metabolic Diseases/blood ; Metabolic Diseases/epidemiology ; Metabolic Diseases/genetics ; Neoplasm Proteins/genetics ; Organ Specificity ; Polymorphism, Single Nucleotide ; Signal Transduction ; Uric Acid/blood
    Chemical Substances ABCG2 protein, human ; ATP Binding Cassette Transporter, Subfamily G, Member 2 ; Genetic Markers ; HNF1A protein, human ; HNF4A protein, human ; Hepatocyte Nuclear Factor 1-alpha ; Hepatocyte Nuclear Factor 4 ; Neoplasm Proteins ; Uric Acid (268B43MJ25)
    Language English
    Publishing date 2019-10-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0504-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

    Pattaro, Cristian / Teumer, Alexander / Gorski, Mathias / Chu, Audrey Y / Li, Man / Mijatovic, Vladan / Garnaas, Maija / Tin, Adrienne / Sorice, Rossella / Li, Yong / Taliun, Daniel / Olden, Matthias / Foster, Meredith / Yang, Qiong / Chen, Ming-Huei / Pers, Tune H / Johnson, Andrew D / Ko, Yi-An / Fuchsberger, Christian /
    Tayo, Bamidele / Nalls, Michael / Feitosa, Mary F / Isaacs, Aaron / Dehghan, Abbas / d'Adamo, Pio / Adeyemo, Adebowale / Dieffenbach, Aida Karina / Zonderman, Alan B / Nolte, Ilja M / van der Most, Peter J / Wright, Alan F / Shuldiner, Alan R / Morrison, Alanna C / Hofman, Albert / Smith, Albert V / Dreisbach, Albert W / Franke, Andre / Uitterlinden, Andre G / Metspalu, Andres / Tonjes, Anke / Lupo, Antonio / Robino, Antonietta / Johansson, Åsa / Demirkan, Ayse / Kollerits, Barbara / Freedman, Barry I / Ponte, Belen / Oostra, Ben A / Paulweber, Bernhard / Krämer, Bernhard K / Mitchell, Braxton D / Buckley, Brendan M / Peralta, Carmen A / Hayward, Caroline / Helmer, Catherine / Rotimi, Charles N / Shaffer, Christian M / Müller, Christian / Sala, Cinzia / van Duijn, Cornelia M / Saint-Pierre, Aude / Ackermann, Daniel / Shriner, Daniel / Ruggiero, Daniela / Toniolo, Daniela / Lu, Yingchang / Cusi, Daniele / Czamara, Darina / Ellinghaus, David / Siscovick, David S / Ruderfer, Douglas / Gieger, Christian / Grallert, Harald / Rochtchina, Elena / Atkinson, Elizabeth J / Holliday, Elizabeth G / Boerwinkle, Eric / Salvi, Erika / Bottinger, Erwin P / Murgia, Federico / Rivadeneira, Fernando / Ernst, Florian / Kronenberg, Florian / Hu, Frank B / Navis, Gerjan J / Curhan, Gary C / Ehret, George B / Homuth, Georg / Coassin, Stefan / Thun, Gian-Andri / Pistis, Giorgio / Gambaro, Giovanni / Malerba, Giovanni / Montgomery, Grant W / Eiriksdottir, Gudny / Jacobs, Gunnar / Li, Guo / Wichmann, H-Erich / Campbell, Harry / Schmidt, Helena / Wallaschofski, Henri / Völzke, Henry / Brenner, Hermann / Kroemer, Heyo K / Kramer, Holly / Lin, Honghuang / Leach, I Mateo / Ford, Ian / Guessous, Idris / Rudan, Igor / Prokopenko, Inga / Borecki, Ingrid / Heid, Iris M / Kolcic, Ivana / Persico, Ivana / Jukema, J Wouter / Wilson, James F / Felix, Janine F / Divers, Jasmin / Lambert, Jean-Charles / Stafford, Jeanette M / Gaspoz, Jean-Michel / Smith, Jennifer A / Faul, Jessica D / Wang, Jie Jin / Ding, Jingzhong / Hirschhorn, Joel N / Attia, John / Whitfield, John B / Chalmers, John / Viikari, Jorma / Coresh, Josef / Denny, Joshua C / Karjalainen, Juha / Fernandes, Jyotika K / Endlich, Karlhans / Butterbach, Katja / Keene, Keith L / Lohman, Kurt / Portas, Laura / Launer, Lenore J / Lyytikäinen, Leo-Pekka / Yengo, Loic / Franke, Lude / Ferrucci, Luigi / Rose, Lynda M / Kedenko, Lyudmyla / Rao, Madhumathi / Struchalin, Maksim / Kleber, Marcus E / Cavalieri, Margherita / Haun, Margot / Cornelis, Marilyn C / Ciullo, Marina / Pirastu, Mario / de Andrade, Mariza / McEvoy, Mark A / Woodward, Mark / Adam, Martin / Cocca, Massimiliano / Nauck, Matthias / Imboden, Medea / Waldenberger, Melanie / Pruijm, Menno / Metzger, Marie / Stumvoll, Michael / Evans, Michele K / Sale, Michele M / Kähönen, Mika / Boban, Mladen / Bochud, Murielle / Rheinberger, Myriam / Verweij, Niek / Bouatia-Naji, Nabila / Martin, Nicholas G / Hastie, Nick / Probst-Hensch, Nicole / Soranzo, Nicole / Devuyst, Olivier / Raitakari, Olli / Gottesman, Omri / Franco, Oscar H / Polasek, Ozren / Gasparini, Paolo / Munroe, Patricia B / Ridker, Paul M / Mitchell, Paul / Muntner, Paul / Meisinger, Christa / Smit, Johannes H / Kovacs, Peter / Wild, Philipp S / Froguel, Philippe / Rettig, Rainer / Mägi, Reedik / Biffar, Reiner / Schmidt, Reinhold / Middelberg, Rita P S / Carroll, Robert J / Penninx, Brenda W / Scott, Rodney J / Katz, Ronit / Sedaghat, Sanaz / Wild, Sarah H / Kardia, Sharon L R / Ulivi, Sheila / Hwang, Shih-Jen / Enroth, Stefan / Kloiber, Stefan / Trompet, Stella / Stengel, Benedicte / Hancock, Stephen J / Turner, Stephen T / Rosas, Sylvia E / Stracke, Sylvia / Harris, Tamara B / Zeller, Tanja / Zemunik, Tatijana / Lehtimäki, Terho / Illig, Thomas / Aspelund, Thor / Nikopensius, Tiit / Esko, Tonu / Tanaka, Toshiko / Gyllensten, Ulf / Völker, Uwe / Emilsson, Valur / Vitart, Veronique / Aalto, Ville / Gudnason, Vilmundur / Chouraki, Vincent / Chen, Wei-Min / Igl, Wilmar / März, Winfried / Koenig, Wolfgang / Lieb, Wolfgang / Loos, Ruth J F / Liu, Yongmei / Snieder, Harold / Pramstaller, Peter P / Parsa, Afshin / O'Connell, Jeffrey R / Susztak, Katalin / Hamet, Pavel / Tremblay, Johanne / de Boer, Ian H / Böger, Carsten A / Goessling, Wolfram / Chasman, Daniel I / Köttgen, Anna / Kao, W H Linda / Fox, Caroline S

    Nature communications

    2016  Volume 7, Page(s) 10023

    Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining ... ...

    Abstract Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
    MeSH term(s) Gene Expression Regulation ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Renal Insufficiency, Chronic/genetics
    Language English
    Publishing date 2016-01-21
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/ncomms10023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Associations of autozygosity with a broad range of human phenotypes.

    Clark, David W / Okada, Yukinori / Moore, Kristjan H S / Mason, Dan / Pirastu, Nicola / Gandin, Ilaria / Mattsson, Hannele / Barnes, Catriona L K / Lin, Kuang / Zhao, Jing Hua / Deelen, Patrick / Rohde, Rebecca / Schurmann, Claudia / Guo, Xiuqing / Giulianini, Franco / Zhang, Weihua / Medina-Gomez, Carolina / Karlsson, Robert / Bao, Yanchun /
    Bartz, Traci M / Baumbach, Clemens / Biino, Ginevra / Bixley, Matthew J / Brumat, Marco / Chai, Jin-Fang / Corre, Tanguy / Cousminer, Diana L / Dekker, Annelot M / Eccles, David A / van Eijk, Kristel R / Fuchsberger, Christian / Gao, He / Germain, Marine / Gordon, Scott D / de Haan, Hugoline G / Harris, Sarah E / Hofer, Edith / Huerta-Chagoya, Alicia / Igartua, Catherine / Jansen, Iris E / Jia, Yucheng / Kacprowski, Tim / Karlsson, Torgny / Kleber, Marcus E / Li, Shengchao Alfred / Li-Gao, Ruifang / Mahajan, Anubha / Matsuda, Koichi / Meidtner, Karina / Meng, Weihua / Montasser, May E / van der Most, Peter J / Munz, Matthias / Nutile, Teresa / Palviainen, Teemu / Prasad, Gauri / Prasad, Rashmi B / Priyanka, Tallapragada Divya Sri / Rizzi, Federica / Salvi, Erika / Sapkota, Bishwa R / Shriner, Daniel / Skotte, Line / Smart, Melissa C / Smith, Albert Vernon / van der Spek, Ashley / Spracklen, Cassandra N / Strawbridge, Rona J / Tajuddin, Salman M / Trompet, Stella / Turman, Constance / Verweij, Niek / Viberti, Clara / Wang, Lihua / Warren, Helen R / Wootton, Robyn E / Yanek, Lisa R / Yao, Jie / Yousri, Noha A / Zhao, Wei / Adeyemo, Adebowale A / Afaq, Saima / Aguilar-Salinas, Carlos Alberto / Akiyama, Masato / Albert, Matthew L / Allison, Matthew A / Alver, Maris / Aung, Tin / Azizi, Fereidoun / Bentley, Amy R / Boeing, Heiner / Boerwinkle, Eric / Borja, Judith B / de Borst, Gert J / Bottinger, Erwin P / Broer, Linda / Campbell, Harry / Chanock, Stephen / Chee, Miao-Li / Chen, Guanjie / Chen, Yii-Der I / Chen, Zhengming / Chiu, Yen-Feng / Cocca, Massimiliano / Collins, Francis S / Concas, Maria Pina / Corley, Janie / Cugliari, Giovanni / van Dam, Rob M / Damulina, Anna / Daneshpour, Maryam S / Day, Felix R / Delgado, Graciela E / Dhana, Klodian / Doney, Alexander S F / Dörr, Marcus / Doumatey, Ayo P / Dzimiri, Nduna / Ebenesersdóttir, S Sunna / Elliott, Joshua / Elliott, Paul / Ewert, Ralf / Felix, Janine F / Fischer, Krista / Freedman, Barry I / Girotto, Giorgia / Goel, Anuj / Gögele, Martin / Goodarzi, Mark O / Graff, Mariaelisa / Granot-Hershkovitz, Einat / Grodstein, Francine / Guarrera, Simonetta / Gudbjartsson, Daniel F / Guity, Kamran / Gunnarsson, Bjarni / Guo, Yu / Hagenaars, Saskia P / Haiman, Christopher A / Halevy, Avner / Harris, Tamara B / Hedayati, Mehdi / van Heel, David A / Hirata, Makoto / Höfer, Imo / Hsiung, Chao Agnes / Huang, Jinyan / Hung, Yi-Jen / Ikram, M Arfan / Jagadeesan, Anuradha / Jousilahti, Pekka / Kamatani, Yoichiro / Kanai, Masahiro / Kerrison, Nicola D / Kessler, Thorsten / Khaw, Kay-Tee / Khor, Chiea Chuen / de Kleijn, Dominique P V / Koh, Woon-Puay / Kolcic, Ivana / Kraft, Peter / Krämer, Bernhard K / Kutalik, Zoltán / Kuusisto, Johanna / Langenberg, Claudia / Launer, Lenore J / Lawlor, Deborah A / Lee, I-Te / Lee, Wen-Jane / Lerch, Markus M / Li, Liming / Liu, Jianjun / Loh, Marie / London, Stephanie J / Loomis, Stephanie / Lu, Yingchang / Luan, Jian'an / Mägi, Reedik / Manichaikul, Ani W / Manunta, Paolo / Másson, Gísli / Matoba, Nana / Mei, Xue W / Meisinger, Christa / Meitinger, Thomas / Mezzavilla, Massimo / Milani, Lili / Millwood, Iona Y / Momozawa, Yukihide / Moore, Amy / Morange, Pierre-Emmanuel / Moreno-Macías, Hortensia / Mori, Trevor A / Morrison, Alanna C / Muka, Taulant / Murakami, Yoshinori / Murray, Alison D / de Mutsert, Renée / Mychaleckyj, Josyf C / Nalls, Mike A / Nauck, Matthias / Neville, Matt J / Nolte, Ilja M / Ong, Ken K / Orozco, Lorena / Padmanabhan, Sandosh / Pálsson, Gunnar / Pankow, James S / Pattaro, Cristian / Pattie, Alison / Polasek, Ozren / Poulter, Neil / Pramstaller, Peter P / Quintana-Murci, Lluis / Räikkönen, Katri / Ralhan, Sarju / Rao, Dabeeru C / van Rheenen, Wouter / Rich, Stephen S / Ridker, Paul M / Rietveld, Cornelius A / Robino, Antonietta / van Rooij, Frank J A / Ruggiero, Daniela / Saba, Yasaman / Sabanayagam, Charumathi / Sabater-Lleal, Maria / Sala, Cinzia Felicita / Salomaa, Veikko / Sandow, Kevin / Schmidt, Helena / Scott, Laura J / Scott, William R / Sedaghati-Khayat, Bahareh / Sennblad, Bengt / van Setten, Jessica / Sever, Peter J / Sheu, Wayne H-H / Shi, Yuan / Shrestha, Smeeta / Shukla, Sharvari Rahul / Sigurdsson, Jon K / Sikka, Timo Tonis / Singh, Jai Rup / Smith, Blair H / Stančáková, Alena / Stanton, Alice / Starr, John M / Stefansdottir, Lilja / Straker, Leon / Sulem, Patrick / Sveinbjornsson, Gardar / Swertz, Morris A / Taylor, Adele M / Taylor, Kent D / Terzikhan, Natalie / Tham, Yih-Chung / Thorleifsson, Gudmar / Thorsteinsdottir, Unnur / Tillander, Annika / Tracy, Russell P / Tusié-Luna, Teresa / Tzoulaki, Ioanna / Vaccargiu, Simona / Vangipurapu, Jagadish / Veldink, Jan H / Vitart, Veronique / Völker, Uwe / Vuoksimaa, Eero / Wakil, Salma M / Waldenberger, Melanie / Wander, Gurpreet S / Wang, Ya Xing / Wareham, Nicholas J / Wild, Sarah / Yajnik, Chittaranjan S / Yuan, Jian-Min / Zeng, Lingyao / Zhang, Liang / Zhou, Jie / Amin, Najaf / Asselbergs, Folkert W / Bakker, Stephan J L / Becker, Diane M / Lehne, Benjamin / Bennett, David A / van den Berg, Leonard H / Berndt, Sonja I / Bharadwaj, Dwaipayan / Bielak, Lawrence F / Bochud, Murielle / Boehnke, Mike / Bouchard, Claude / Bradfield, Jonathan P / Brody, Jennifer A / Campbell, Archie / Carmi, Shai / Caulfield, Mark J / Cesarini, David / Chambers, John C / Chandak, Giriraj Ratan / Cheng, Ching-Yu / Ciullo, Marina / Cornelis, Marilyn / Cusi, Daniele / Smith, George Davey / Deary, Ian J / Dorajoo, Rajkumar / van Duijn, Cornelia M / Ellinghaus, David / Erdmann, Jeanette / Eriksson, Johan G / Evangelou, Evangelos / Evans, Michele K / Faul, Jessica D / Feenstra, Bjarke / Feitosa, Mary / Foisy, Sylvain / Franke, Andre / Friedlander, Yechiel / Gasparini, Paolo / Gieger, Christian / Gonzalez, Clicerio / Goyette, Philippe / Grant, Struan F A / Griffiths, Lyn R / Groop, Leif / Gudnason, Vilmundur / Gyllensten, Ulf / Hakonarson, Hakon / Hamsten, Anders / van der Harst, Pim / Heng, Chew-Kiat / Hicks, Andrew A / Hochner, Hagit / Huikuri, Heikki / Hunt, Steven C / Jaddoe, Vincent W V / De Jager, Philip L / Johannesson, Magnus / Johansson, Åsa / Jonas, Jost B / Jukema, J Wouter / Junttila, Juhani / Kaprio, Jaakko / Kardia, Sharon L R / Karpe, Fredrik / Kumari, Meena / Laakso, Markku / van der Laan, Sander W / Lahti, Jari / Laudes, Matthias / Lea, Rodney A / Lieb, Wolfgang / Lumley, Thomas / Martin, Nicholas G / März, Winfried / Matullo, Giuseppe / McCarthy, Mark I / Medland, Sarah E / Merriman, Tony R / Metspalu, Andres / Meyer, Brian F / Mohlke, Karen L / Montgomery, Grant W / Mook-Kanamori, Dennis / Munroe, Patricia B / North, Kari E / Nyholt, Dale R / O'connell, Jeffery R / Ober, Carole / Oldehinkel, Albertine J / Palmas, Walter / Palmer, Colin / Pasterkamp, Gerard G / Patin, Etienne / Pennell, Craig E / Perusse, Louis / Peyser, Patricia A / Pirastu, Mario / Polderman, Tinca J C / Porteous, David J / Posthuma, Danielle / Psaty, Bruce M / Rioux, John D / Rivadeneira, Fernando / Rotimi, Charles / Rotter, Jerome I / Rudan, Igor / Den Ruijter, Hester M / Sanghera, Dharambir K / Sattar, Naveed / Schmidt, Reinhold / Schulze, Matthias B / Schunkert, Heribert / Scott, Robert A / Shuldiner, Alan R / Sim, Xueling / Small, Neil / Smith, Jennifer A / Sotoodehnia, Nona / Tai, E-Shyong / Teumer, Alexander / Timpson, Nicholas J / Toniolo, Daniela / Tregouet, David-Alexandre / Tuomi, Tiinamaija / Vollenweider, Peter / Wang, Carol A / Weir, David R / Whitfield, John B / Wijmenga, Cisca / Wong, Tien-Yin / Wright, John / Yang, Jingyun / Yu, Lei / Zemel, Babette S / Zonderman, Alan B / Perola, Markus / Magnusson, Patrik K E / Uitterlinden, André G / Kooner, Jaspal S / Chasman, Daniel I / Loos, Ruth J F / Franceschini, Nora / Franke, Lude / Haley, Chris S / Hayward, Caroline / Walters, Robin G / Perry, John R B / Esko, Tōnu / Helgason, Agnar / Stefansson, Kari / Joshi, Peter K / Kubo, Michiaki / Wilson, James F

    Nature communications

    2019  Volume 10, Issue 1, Page(s) 4957

    Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both ...

    Abstract In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F
    MeSH term(s) Alleles ; Body Size/genetics ; Cognition ; Consanguinity ; Fertility/genetics ; Haplotypes ; Health Status ; Homozygote ; Humans ; Inbreeding Depression/genetics ; Risk-Taking
    Language English
    Publishing date 2019-10-31
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-019-12283-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

    Turcot, Valérie / Lu, Yingchang / Highland, Heather M / Schurmann, Claudia / Justice, Anne E / Fine, Rebecca S / Bradfield, Jonathan P / Esko, Tõnu / Giri, Ayush / Graff, Mariaelisa / Guo, Xiuqing / Hendricks, Audrey E / Karaderi, Tugce / Lempradl, Adelheid / Locke, Adam E / Mahajan, Anubha / Marouli, Eirini / Sivapalaratnam, Suthesh / Young, Kristin L /
    Alfred, Tamuno / Feitosa, Mary F / Masca, Nicholas G D / Manning, Alisa K / Medina-Gomez, Carolina / Mudgal, Poorva / Ng, Maggie C Y / Reiner, Alex P / Vedantam, Sailaja / Willems, Sara M / Winkler, Thomas W / Abecasis, Gonçalo / Aben, Katja K / Alam, Dewan S / Alharthi, Sameer E / Allison, Matthew / Amouyel, Philippe / Asselbergs, Folkert W / Auer, Paul L / Balkau, Beverley / Bang, Lia E / Barroso, Inês / Bastarache, Lisa / Benn, Marianne / Bergmann, Sven / Bielak, Lawrence F / Blüher, Matthias / Boehnke, Michael / Boeing, Heiner / Boerwinkle, Eric / Böger, Carsten A / Bork-Jensen, Jette / Bots, Michiel L / Bottinger, Erwin P / Bowden, Donald W / Brandslund, Ivan / Breen, Gerome / Brilliant, Murray H / Broer, Linda / Brumat, Marco / Burt, Amber A / Butterworth, Adam S / Campbell, Peter T / Cappellani, Stefania / Carey, David J / Catamo, Eulalia / Caulfield, Mark J / Chambers, John C / Chasman, Daniel I / Chen, Yii-Der I / Chowdhury, Rajiv / Christensen, Cramer / Chu, Audrey Y / Cocca, Massimiliano / Collins, Francis S / Cook, James P / Corley, Janie / Galbany, Jordi Corominas / Cox, Amanda J / Crosslin, David S / Cuellar-Partida, Gabriel / D'Eustacchio, Angela / Danesh, John / Davies, Gail / Bakker, Paul I W / Groot, Mark C H / Mutsert, Renée / Deary, Ian J / Dedoussis, George / Demerath, Ellen W / Heijer, Martin / Hollander, Anneke I / Ruijter, Hester M / Dennis, Joe G / Denny, Josh C / Di Angelantonio, Emanuele / Drenos, Fotios / Du, Mengmeng / Dubé, Marie-Pierre / Dunning, Alison M / Easton, Douglas F / Edwards, Todd L / Ellinghaus, David / Ellinor, Patrick T / Elliott, Paul / Evangelou, Evangelos / Farmaki, Aliki-Eleni / Farooqi, I Sadaf / Faul, Jessica D / Fauser, Sascha / Feng, Shuang / Ferrannini, Ele / Ferrieres, Jean / Florez, Jose C / Ford, Ian / Fornage, Myriam / Franco, Oscar H / Franke, Andre / Franks, Paul W / Friedrich, Nele / Frikke-Schmidt, Ruth / Galesloot, Tessel E / Gan, Wei / Gandin, Ilaria / Gasparini, Paolo / Gibson, Jane / Giedraitis, Vilmantas / Gjesing, Anette P / Gordon-Larsen, Penny / Gorski, Mathias / Grabe, Hans-Jörgen / Grant, Struan F A / Grarup, Niels / Griffiths, Helen L / Grove, Megan L / Gudnason, Vilmundur / Gustafsson, Stefan / Haessler, Jeff / Hakonarson, Hakon / Hammerschlag, Anke R / Hansen, Torben / Harris, Kathleen Mullan / Harris, Tamara B / Hattersley, Andrew T / Have, Christian T / Hayward, Caroline / He, Liang / Heard-Costa, Nancy L / Heath, Andrew C / Heid, Iris M / Helgeland, Øyvind / Hernesniemi, Jussi / Hewitt, Alex W / Holmen, Oddgeir L / Hovingh, G Kees / Howson, Joanna M M / Hu, Yao / Huang, Paul L / Huffman, Jennifer E / Ikram, M Arfan / Ingelsson, Erik / Jackson, Anne U / Jansson, Jan-Håkan / Jarvik, Gail P / Jensen, Gorm B / Jia, Yucheng / Johansson, Stefan / Jørgensen, Marit E / Jørgensen, Torben / Jukema, J Wouter / Kahali, Bratati / Kahn, René S / Kähönen, Mika / Kamstrup, Pia R / Kanoni, Stavroula / Kaprio, Jaakko / Karaleftheri, Maria / Kardia, Sharon L R / Karpe, Fredrik / Kathiresan, Sekar / Kee, Frank / Kiemeney, Lambertus A / Kim, Eric / Kitajima, Hidetoshi / Komulainen, Pirjo / Kooner, Jaspal S / Kooperberg, Charles / Korhonen, Tellervo / Kovacs, Peter / Kuivaniemi, Helena / Kutalik, Zoltán / Kuulasmaa, Kari / Kuusisto, Johanna / Laakso, Markku / Lakka, Timo A / Lamparter, David / Lange, Ethan M / Lange, Leslie A / Langenberg, Claudia / Larson, Eric B / Lee, Nanette R / Lehtimäki, Terho / Lewis, Cora E / Li, Huaixing / Li, Jin / Li-Gao, Ruifang / Lin, Honghuang / Lin, Keng-Hung / Lin, Li-An / Lin, Xu / Lind, Lars / Lindström, Jaana / Linneberg, Allan / Liu, Ching-Ti / Liu, Dajiang J / Liu, Yongmei / Lo, Ken S / Lophatananon, Artitaya / Lotery, Andrew J / Loukola, Anu / Luan, Jian'an / Lubitz, Steven A / Lyytikäinen, Leo-Pekka / Männistö, Satu / Marenne, Gaëlle / Mazul, Angela L / McCarthy, Mark I / McKean-Cowdin, Roberta / Medland, Sarah E / Meidtner, Karina / Milani, Lili / Mistry, Vanisha / Mitchell, Paul / Mohlke, Karen L / Moilanen, Leena / Moitry, Marie / Montgomery, Grant W / Mook-Kanamori, Dennis O / Moore, Carmel / Mori, Trevor A / Morris, Andrew D / Morris, Andrew P / Müller-Nurasyid, Martina / Munroe, Patricia B / Nalls, Mike A / Narisu, Narisu / Nelson, Christopher P / Neville, Matt / Nielsen, Sune F / Nikus, Kjell / Njølstad, Pål R / Nordestgaard, Børge G / Nyholt, Dale R / O'Connel, Jeffrey R / O'Donoghue, Michelle L / Loohuis, Loes M Olde / Ophoff, Roel A / Owen, Katharine R / Packard, Chris J / Padmanabhan, Sandosh / Palmer, Colin N A / Palmer, Nicholette D / Pasterkamp, Gerard / Patel, Aniruddh P / Pattie, Alison / Pedersen, Oluf / Peissig, Peggy L / Peloso, Gina M / Pennell, Craig E / Perola, Markus / Perry, James A / Perry, John R B / Pers, Tune H / Person, Thomas N / Peters, Annette / Petersen, Eva R B / Peyser, Patricia A / Pirie, Ailith / Polasek, Ozren / Polderman, Tinca J / Puolijoki, Hannu / Raitakari, Olli T / Rasheed, Asif / Rauramaa, Rainer / Reilly, Dermot F / Renström, Frida / Rheinberger, Myriam / Ridker, Paul M / Rioux, John D / Rivas, Manuel A / Roberts, David J / Robertson, Neil R / Robino, Antonietta / Rolandsson, Olov / Rudan, Igor / Ruth, Katherine S / Saleheen, Danish / Salomaa, Veikko / Samani, Nilesh J / Sapkota, Yadav / Sattar, Naveed / Schoen, Robert E / Schreiner, Pamela J / Schulze, Matthias B / Scott, Robert A / Segura-Lepe, Marcelo P / Shah, Svati H / Sheu, Wayne H-H / Sim, Xueling / Slater, Andrew J / Small, Kerrin S / Smith, Albert V / Southam, Lorraine / Spector, Timothy D / Speliotes, Elizabeth K / Starr, John M / Stefansson, Kari / Steinthorsdottir, Valgerdur / Stirrups, Kathleen E / Strauch, Konstantin / Stringham, Heather M / Stumvoll, Michael / Sun, Liang / Surendran, Praveen / Swift, Amy J / Tada, Hayato / Tansey, Katherine E / Tardif, Jean-Claude / Taylor, Kent D / Teumer, Alexander / Thompson, Deborah J / Thorleifsson, Gudmar / Thorsteinsdottir, Unnur / Thuesen, Betina H / Tönjes, Anke / Tromp, Gerard / Trompet, Stella / Tsafantakis, Emmanouil / Tuomilehto, Jaakko / Tybjaerg-Hansen, Anne / Tyrer, Jonathan P / Uher, Rudolf / Uitterlinden, André G / Uusitupa, Matti / Laan, Sander W / Duijn, Cornelia M / Leeuwen, Nienke / van Setten, Jessica / Vanhala, Mauno / Varbo, Anette / Varga, Tibor V / Varma, Rohit / Edwards, Digna R Velez / Vermeulen, Sita H / Veronesi, Giovanni / Vestergaard, Henrik / Vitart, Veronique / Vogt, Thomas F / Völker, Uwe / Vuckovic, Dragana / Wagenknecht, Lynne E / Walker, Mark / Wallentin, Lars / Wang, Feijie / Wang, Carol A / Wang, Shuai / Wang, Yiqin / Ware, Erin B / Wareham, Nicholas J / Warren, Helen R / Waterworth, Dawn M / Wessel, Jennifer / White, Harvey D / Willer, Cristen J / Wilson, James G / Witte, Daniel R / Wood, Andrew R / Wu, Ying / Yaghootkar, Hanieh / Yao, Jie / Yao, Pang / Yerges-Armstrong, Laura M / Young, Robin / Zeggini, Eleftheria / Zhan, Xiaowei / Zhang, Weihua / Zhao, Jing Hua / Zhao, Wei / Zhou, Wei / Zondervan, Krina T / Rotter, Jerome I / Pospisilik, John A / Rivadeneira, Fernando / Borecki, Ingrid B / Deloukas, Panos / Frayling, Timothy M / Lettre, Guillaume / North, Kari E / Lindgren, Cecilia M / Hirschhorn, Joel N / Loos, Ruth J F

    Nature genetics

    2019  Volume 51, Issue 7, Page(s) 1191–1192

    Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    Language English
    Publishing date 2019-06-04
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0447-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

    Ligthart, Symen / Vaez, Ahmad / Võsa, Urmo / Stathopoulou, Maria G / de Vries, Paul S / Prins, Bram P / Van der Most, Peter J / Tanaka, Toshiko / Naderi, Elnaz / Rose, Lynda M / Wu, Ying / Karlsson, Robert / Barbalic, Maja / Lin, Honghuang / Pool, René / Zhu, Gu / Macé, Aurélien / Sidore, Carlo / Trompet, Stella /
    Mangino, Massimo / Sabater-Lleal, Maria / Kemp, John P / Abbasi, Ali / Kacprowski, Tim / Verweij, Niek / Smith, Albert V / Huang, Tao / Marzi, Carola / Feitosa, Mary F / Lohman, Kurt K / Kleber, Marcus E / Milaneschi, Yuri / Mueller, Christian / Huq, Mahmudul / Vlachopoulou, Efthymia / Lyytikäinen, Leo-Pekka / Oldmeadow, Christopher / Deelen, Joris / Perola, Markus / Zhao, Jing Hua / Feenstra, Bjarke / Amini, Marzyeh / Lahti, Jari / Schraut, Katharina E / Fornage, Myriam / Suktitipat, Bhoom / Chen, Wei-Min / Li, Xiaohui / Nutile, Teresa / Malerba, Giovanni / Luan, Jian'an / Bak, Tom / Schork, Nicholas / Del Greco M, Fabiola / Thiering, Elisabeth / Mahajan, Anubha / Marioni, Riccardo E / Mihailov, Evelin / Eriksson, Joel / Ozel, Ayse Bilge / Zhang, Weihua / Nethander, Maria / Cheng, Yu-Ching / Aslibekyan, Stella / Ang, Wei / Gandin, Ilaria / Yengo, Loïc / Portas, Laura / Kooperberg, Charles / Hofer, Edith / Rajan, Kumar B / Schurmann, Claudia / den Hollander, Wouter / Ahluwalia, Tarunveer S / Zhao, Jing / Draisma, Harmen H M / Ford, Ian / Timpson, Nicholas / Teumer, Alexander / Huang, Hongyan / Wahl, Simone / Liu, YongMei / Huang, Jie / Uh, Hae-Won / Geller, Frank / Joshi, Peter K / Yanek, Lisa R / Trabetti, Elisabetta / Lehne, Benjamin / Vozzi, Diego / Verbanck, Marie / Biino, Ginevra / Saba, Yasaman / Meulenbelt, Ingrid / O'Connell, Jeff R / Laakso, Markku / Giulianini, Franco / Magnusson, Patrik K E / Ballantyne, Christie M / Hottenga, Jouke Jan / Montgomery, Grant W / Rivadineira, Fernando / Rueedi, Rico / Steri, Maristella / Herzig, Karl-Heinz / Stott, David J / Menni, Cristina / Frånberg, Mattias / St Pourcain, Beate / Felix, Stephan B / Pers, Tune H / Bakker, Stephan J L / Kraft, Peter / Peters, Annette / Vaidya, Dhananjay / Delgado, Graciela / Smit, Johannes H / Großmann, Vera / Sinisalo, Juha / Seppälä, Ilkka / Williams, Stephen R / Holliday, Elizabeth G / Moed, Matthijs / Langenberg, Claudia / Räikkönen, Katri / Ding, Jingzhong / Campbell, Harry / Sale, Michele M / Chen, Yii-Der I / James, Alan L / Ruggiero, Daniela / Soranzo, Nicole / Hartman, Catharina A / Smith, Erin N / Berenson, Gerald S / Fuchsberger, Christian / Hernandez, Dena / Tiesler, Carla M T / Giedraitis, Vilmantas / Liewald, David / Fischer, Krista / Mellström, Dan / Larsson, Anders / Wang, Yunmei / Scott, William R / Lorentzon, Matthias / Beilby, John / Ryan, Kathleen A / Pennell, Craig E / Vuckovic, Dragana / Balkau, Beverly / Concas, Maria Pina / Schmidt, Reinhold / Mendes de Leon, Carlos F / Bottinger, Erwin P / Kloppenburg, Margreet / Paternoster, Lavinia / Boehnke, Michael / Musk, A W / Willemsen, Gonneke / Evans, David M / Madden, Pamela A F / Kähönen, Mika / Kutalik, Zoltán / Zoledziewska, Magdalena / Karhunen, Ville / Kritchevsky, Stephen B / Sattar, Naveed / Lachance, Genevieve / Clarke, Robert / Harris, Tamara B / Raitakari, Olli T / Attia, John R / van Heemst, Diana / Kajantie, Eero / Sorice, Rossella / Gambaro, Giovanni / Scott, Robert A / Hicks, Andrew A / Ferrucci, Luigi / Standl, Marie / Lindgren, Cecilia M / Starr, John M / Karlsson, Magnus / Lind, Lars / Li, Jun Z / Chambers, John C / Mori, Trevor A / de Geus, Eco J C N / Heath, Andrew C / Martin, Nicholas G / Auvinen, Juha / Buckley, Brendan M / de Craen, Anton J M / Waldenberger, Melanie / Strauch, Konstantin / Meitinger, Thomas / Scott, Rodney J / McEvoy, Mark / Beekman, Marian / Bombieri, Cristina / Ridker, Paul M / Mohlke, Karen L / Pedersen, Nancy L / Morrison, Alanna C / Boomsma, Dorret I / Whitfield, John B / Strachan, David P / Hofman, Albert / Vollenweider, Peter / Cucca, Francesco / Jarvelin, Marjo-Riitta / Jukema, J Wouter / Spector, Tim D / Hamsten, Anders / Zeller, Tanja / Uitterlinden, André G / Nauck, Matthias / Gudnason, Vilmundur / Qi, Lu / Grallert, Harald / Borecki, Ingrid B / Rotter, Jerome I / März, Winfried / Wild, Philipp S / Lokki, Marja-Liisa / Boyle, Michael / Salomaa, Veikko / Melbye, Mads / Eriksson, Johan G / Wilson, James F / Penninx, Brenda W J H / Becker, Diane M / Worrall, Bradford B / Gibson, Greg / Krauss, Ronald M / Ciullo, Marina / Zaza, Gianluigi / Wareham, Nicholas J / Oldehinkel, Albertine J / Palmer, Lyle J / Murray, Sarah S / Pramstaller, Peter P / Bandinelli, Stefania / Heinrich, Joachim / Ingelsson, Erik / Deary, Ian J / Mägi, Reedik / Vandenput, Liesbeth / van der Harst, Pim / Desch, Karl C / Kooner, Jaspal S / Ohlsson, Claes / Hayward, Caroline / Lehtimäki, Terho / Shuldiner, Alan R / Arnett, Donna K / Beilin, Lawrence J / Robino, Antonietta / Froguel, Philippe / Pirastu, Mario / Jess, Tine / Koenig, Wolfgang / Loos, Ruth J F / Evans, Denis A / Schmidt, Helena / Smith, George Davey / Slagboom, P Eline / Eiriksdottir, Gudny / Morris, Andrew P / Psaty, Bruce M / Tracy, Russell P / Nolte, Ilja M / Boerwinkle, Eric / Visvikis-Siest, Sophie / Reiner, Alex P / Gross, Myron / Bis, Joshua C / Franke, Lude / Franco, Oscar H / Benjamin, Emelia J / Chasman, Daniel I / Dupuis, Josée / Snieder, Harold / Dehghan, Abbas / Alizadeh, Behrooz Z

    American journal of human genetics

    2014  Volume 103, Issue 5, Page(s) 691–706

    Abstract: C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical ... ...

    Abstract C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical outcomes is debated. We performed two genome-wide association studies (GWASs), on HapMap and 1000 Genomes imputed data, of circulating amounts of CRP by using data from 88 studies comprising 204,402 European individuals. Additionally, we performed in silico functional analyses and Mendelian randomization analyses with several clinical outcomes. The GWAS meta-analyses of CRP revealed 58 distinct genetic loci (p < 5 × 10
    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers/metabolism ; Bipolar Disorder/genetics ; Bipolar Disorder/metabolism ; Body Mass Index ; C-Reactive Protein/genetics ; Child ; Female ; Genetic Loci/genetics ; Genome-Wide Association Study/methods ; Humans ; Inflammation/genetics ; Inflammation/metabolism ; Liver/metabolism ; Liver/pathology ; Male ; Mendelian Randomization Analysis/methods ; Metabolic Networks and Pathways/genetics ; Middle Aged ; Schizophrenia/genetics ; Schizophrenia/metabolism ; Young Adult
    Chemical Substances Biomarkers ; C-Reactive Protein (9007-41-4)
    Language English
    Publishing date 2014-05-03
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.09.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

    Turcot, Valérie / Lu, Yingchang / Highland, Heather M / Schurmann, Claudia / Justice, Anne E / Fine, Rebecca S / Bradfield, Jonathan P / Esko, Tõnu / Giri, Ayush / Graff, Mariaelisa / Guo, Xiuqing / Hendricks, Audrey E / Karaderi, Tugce / Lempradl, Adelheid / Locke, Adam E / Mahajan, Anubha / Marouli, Eirini / Sivapalaratnam, Suthesh / Young, Kristin L /
    Alfred, Tamuno / Feitosa, Mary F / Masca, Nicholas G D / Manning, Alisa K / Medina-Gomez, Carolina / Mudgal, Poorva / Ng, Maggie C Y / Reiner, Alex P / Vedantam, Sailaja / Willems, Sara M / Winkler, Thomas W / Abecasis, Gonçalo / Aben, Katja K / Alam, Dewan S / Alharthi, Sameer E / Allison, Matthew / Amouyel, Philippe / Asselbergs, Folkert W / Auer, Paul L / Balkau, Beverley / Bang, Lia E / Barroso, Inês / Bastarache, Lisa / Benn, Marianne / Bergmann, Sven / Bielak, Lawrence F / Blüher, Matthias / Boehnke, Michael / Boeing, Heiner / Boerwinkle, Eric / Böger, Carsten A / Bork-Jensen, Jette / Bots, Michiel L / Bottinger, Erwin P / Bowden, Donald W / Brandslund, Ivan / Breen, Gerome / Brilliant, Murray H / Broer, Linda / Brumat, Marco / Burt, Amber A / Butterworth, Adam S / Campbell, Peter T / Cappellani, Stefania / Carey, David J / Catamo, Eulalia / Caulfield, Mark J / Chambers, John C / Chasman, Daniel I / Chen, Yii-Der I / Chowdhury, Rajiv / Christensen, Cramer / Chu, Audrey Y / Cocca, Massimiliano / Collins, Francis S / Cook, James P / Corley, Janie / Corominas Galbany, Jordi / Cox, Amanda J / Crosslin, David S / Cuellar-Partida, Gabriel / D'Eustacchio, Angela / Danesh, John / Davies, Gail / Bakker, Paul I W / Groot, Mark C H / Mutsert, Renée / Deary, Ian J / Dedoussis, George / Demerath, Ellen W / Heijer, Martin / Hollander, Anneke I / Ruijter, Hester M / Dennis, Joe G / Denny, Josh C / Angelantonio, Emanuele / Drenos, Fotios / Du, Mengmeng / Dubé, Marie-Pierre / Dunning, Alison M / Easton, Douglas F / Edwards, Todd L / Ellinghaus, David / Ellinor, Patrick T / Elliott, Paul / Evangelou, Evangelos / Farmaki, Aliki-Eleni / Farooqi, I Sadaf / Faul, Jessica D / Fauser, Sascha / Feng, Shuang / Ferrannini, Ele / Ferrieres, Jean / Florez, Jose C / Ford, Ian / Fornage, Myriam / Franco, Oscar H / Franke, Andre / Franks, Paul W / Friedrich, Nele / Frikke-Schmidt, Ruth / Galesloot, Tessel E / Gan, Wei / Gandin, Ilaria / Gasparini, Paolo / Gibson, Jane / Giedraitis, Vilmantas / Gjesing, Anette P / Gordon-Larsen, Penny / Gorski, Mathias / Grabe, Hans-Jörgen / Grant, Struan F A / Grarup, Niels / Griffiths, Helen L / Grove, Megan L / Gudnason, Vilmundur / Gustafsson, Stefan / Haessler, Jeff / Hakonarson, Hakon / Hammerschlag, Anke R / Hansen, Torben / Harris, Kathleen Mullan / Harris, Tamara B / Hattersley, Andrew T / Have, Christian T / Hayward, Caroline / He, Liang / Heard-Costa, Nancy L / Heath, Andrew C / Heid, Iris M / Helgeland, Øyvind / Hernesniemi, Jussi / Hewitt, Alex W / Holmen, Oddgeir L / Hovingh, G Kees / Howson, Joanna M M / Hu, Yao / Huang, Paul L / Huffman, Jennifer E / Ikram, M Arfan / Ingelsson, Erik / Jackson, Anne U / Jansson, Jan-Håkan / Jarvik, Gail P / Jensen, Gorm B / Jia, Yucheng / Johansson, Stefan / Jørgensen, Marit E / Jørgensen, Torben / Jukema, J Wouter / Kahali, Bratati / Kahn, René S / Kähönen, Mika / Kamstrup, Pia R / Kanoni, Stavroula / Kaprio, Jaakko / Karaleftheri, Maria / Kardia, Sharon L R / Karpe, Fredrik / Kathiresan, Sekar / Kee, Frank / Kiemeney, Lambertus A / Kim, Eric / Kitajima, Hidetoshi / Komulainen, Pirjo / Kooner, Jaspal S / Kooperberg, Charles / Korhonen, Tellervo / Kovacs, Peter / Kuivaniemi, Helena / Kutalik, Zoltán / Kuulasmaa, Kari / Kuusisto, Johanna / Laakso, Markku / Lakka, Timo A / Lamparter, David / Lange, Ethan M / Lange, Leslie A / Langenberg, Claudia / Larson, Eric B / Lee, Nanette R / Lehtimäki, Terho / Lewis, Cora E / Li, Huaixing / Li, Jin / Li-Gao, Ruifang / Lin, Honghuang / Lin, Keng-Hung / Lin, Li-An / Lin, Xu / Lind, Lars / Lindström, Jaana / Linneberg, Allan / Liu, Ching-Ti / Liu, Dajiang J / Liu, Yongmei / Lo, Ken S / Lophatananon, Artitaya / Lotery, Andrew J / Loukola, Anu / Luan, Jian'an / Lubitz, Steven A / Lyytikäinen, Leo-Pekka / Männistö, Satu / Marenne, Gaëlle / Mazul, Angela L / McCarthy, Mark I / McKean-Cowdin, Roberta / Medland, Sarah E / Meidtner, Karina / Milani, Lili / Mistry, Vanisha / Mitchell, Paul / Mohlke, Karen L / Moilanen, Leena / Moitry, Marie / Montgomery, Grant W / Mook-Kanamori, Dennis O / Moore, Carmel / Mori, Trevor A / Morris, Andrew D / Morris, Andrew P / Müller-Nurasyid, Martina / Munroe, Patricia B / Nalls, Mike A / Narisu, Narisu / Nelson, Christopher P / Neville, Matt / Nielsen, Sune F / Nikus, Kjell / Njølstad, Pål R / Nordestgaard, Børge G / Nyholt, Dale R / O'Connel, Jeffrey R / O'Donoghue, Michelle L / Olde Loohuis, Loes M / Ophoff, Roel A / Owen, Katharine R / Packard, Chris J / Padmanabhan, Sandosh / Palmer, Colin N A / Palmer, Nicholette D / Pasterkamp, Gerard / Patel, Aniruddh P / Pattie, Alison / Pedersen, Oluf / Peissig, Peggy L / Peloso, Gina M / Pennell, Craig E / Perola, Markus / Perry, James A / Perry, John R B / Pers, Tune H / Person, Thomas N / Peters, Annette / Petersen, Eva R B / Peyser, Patricia A / Pirie, Ailith / Polasek, Ozren / Polderman, Tinca J / Puolijoki, Hannu / Raitakari, Olli T / Rasheed, Asif / Rauramaa, Rainer / Reilly, Dermot F / Renström, Frida / Rheinberger, Myriam / Ridker, Paul M / Rioux, John D / Rivas, Manuel A / Roberts, David J / Robertson, Neil R / Robino, Antonietta / Rolandsson, Olov / Rudan, Igor / Ruth, Katherine S / Saleheen, Danish / Salomaa, Veikko / Samani, Nilesh J / Sapkota, Yadav / Sattar, Naveed / Schoen, Robert E / Schreiner, Pamela J / Schulze, Matthias B / Scott, Robert A / Segura-Lepe, Marcelo P / Shah, Svati H / Sheu, Wayne H-H / Sim, Xueling / Slater, Andrew J / Small, Kerrin S / Smith, Albert V / Southam, Lorraine / Spector, Timothy D / Speliotes, Elizabeth K / Starr, John M / Stefansson, Kari / Steinthorsdottir, Valgerdur / Stirrups, Kathleen E / Strauch, Konstantin / Stringham, Heather M / Stumvoll, Michael / Sun, Liang / Surendran, Praveen / Swift, Amy J / Tada, Hayato / Tansey, Katherine E / Tardif, Jean-Claude / Taylor, Kent D / Teumer, Alexander / Thompson, Deborah J / Thorleifsson, Gudmar / Thorsteinsdottir, Unnur / Thuesen, Betina H / Tönjes, Anke / Tromp, Gerard / Trompet, Stella / Tsafantakis, Emmanouil / Tuomilehto, Jaakko / Tybjaerg-Hansen, Anne / Tyrer, Jonathan P / Uher, Rudolf / Uitterlinden, André G / Uusitupa, Matti / Laan, Sander W / Duijn, Cornelia M / Leeuwen, Nienke / van Setten, Jessica / Vanhala, Mauno / Varbo, Anette / Varga, Tibor V / Varma, Rohit / Velez Edwards, Digna R / Vermeulen, Sita H / Veronesi, Giovanni / Vestergaard, Henrik / Vitart, Veronique / Vogt, Thomas F / Völker, Uwe / Vuckovic, Dragana / Wagenknecht, Lynne E / Walker, Mark / Wallentin, Lars / Wang, Feijie / Wang, Carol A / Wang, Shuai / Wang, Yiqin / Ware, Erin B / Wareham, Nicholas J / Warren, Helen R / Waterworth, Dawn M / Wessel, Jennifer / White, Harvey D / Willer, Cristen J / Wilson, James G / Witte, Daniel R / Wood, Andrew R / Wu, Ying / Yaghootkar, Hanieh / Yao, Jie / Yao, Pang / Yerges-Armstrong, Laura M / Young, Robin / Zeggini, Eleftheria / Zhan, Xiaowei / Zhang, Weihua / Zhao, Jing Hua / Zhao, Wei / Zhou, Wei / Zondervan, Krina T / Rotter, Jerome I / Pospisilik, John A / Rivadeneira, Fernando / Borecki, Ingrid B / Deloukas, Panos / Frayling, Timothy M / Lettre, Guillaume / North, Kari E / Lindgren, Cecilia M / Hirschhorn, Joel N / Loos, Ruth J F

    Nature genetics

    2018  Volume 50, Issue 5, Page(s) 765–766

    Abstract: In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article. ...

    Abstract In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.
    Language English
    Publishing date 2018-05-14
    Publishing country United States
    Document type Journal Article ; Published Erratum
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-018-0050-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Directional dominance on stature and cognition in diverse human populations.

    Joshi, Peter K / Esko, Tonu / Mattsson, Hannele / Eklund, Niina / Gandin, Ilaria / Nutile, Teresa / Jackson, Anne U / Schurmann, Claudia / Smith, Albert V / Zhang, Weihua / Okada, Yukinori / Stančáková, Alena / Faul, Jessica D / Zhao, Wei / Bartz, Traci M / Concas, Maria Pina / Franceschini, Nora / Enroth, Stefan / Vitart, Veronique /
    Trompet, Stella / Guo, Xiuqing / Chasman, Daniel I / O'Connel, Jeffery R / Corre, Tanguy / Nongmaithem, Suraj S / Chen, Yuning / Mangino, Massimo / Ruggiero, Daniela / Traglia, Michela / Farmaki, Aliki-Eleni / Kacprowski, Tim / Bjonnes, Andrew / van der Spek, Ashley / Wu, Ying / Giri, Anil K / Yanek, Lisa R / Wang, Lihua / Hofer, Edith / Rietveld, Cornelius A / McLeod, Olga / Cornelis, Marilyn C / Pattaro, Cristian / Verweij, Niek / Baumbach, Clemens / Abdellaoui, Abdel / Warren, Helen R / Vuckovic, Dragana / Mei, Hao / Bouchard, Claude / Perry, John R B / Cappellani, Stefania / Mirza, Saira S / Benton, Miles C / Broeckel, Ulrich / Medland, Sarah E / Lind, Penelope A / Malerba, Giovanni / Drong, Alexander / Yengo, Loic / Bielak, Lawrence F / Zhi, Degui / van der Most, Peter J / Shriner, Daniel / Mägi, Reedik / Hemani, Gibran / Karaderi, Tugce / Wang, Zhaoming / Liu, Tian / Demuth, Ilja / Zhao, Jing Hua / Meng, Weihua / Lataniotis, Lazaros / van der Laan, Sander W / Bradfield, Jonathan P / Wood, Andrew R / Bonnefond, Amelie / Ahluwalia, Tarunveer S / Hall, Leanne M / Salvi, Erika / Yazar, Seyhan / Carstensen, Lisbeth / de Haan, Hugoline G / Abney, Mark / Afzal, Uzma / Allison, Matthew A / Amin, Najaf / Asselbergs, Folkert W / Bakker, Stephan J L / Barr, R Graham / Baumeister, Sebastian E / Benjamin, Daniel J / Bergmann, Sven / Boerwinkle, Eric / Bottinger, Erwin P / Campbell, Archie / Chakravarti, Aravinda / Chan, Yingleong / Chanock, Stephen J / Chen, Constance / Chen, Y-D Ida / Collins, Francis S / Connell, John / Correa, Adolfo / Cupples, L Adrienne / Smith, George Davey / Davies, Gail / Dörr, Marcus / Ehret, Georg / Ellis, Stephen B / Feenstra, Bjarke / Feitosa, Mary F / Ford, Ian / Fox, Caroline S / Frayling, Timothy M / Friedrich, Nele / Geller, Frank / Scotland, Generation / Gillham-Nasenya, Irina / Gottesman, Omri / Graff, Misa / Grodstein, Francine / Gu, Charles / Haley, Chris / Hammond, Christopher J / Harris, Sarah E / Harris, Tamara B / Hastie, Nicholas D / Heard-Costa, Nancy L / Heikkilä, Kauko / Hocking, Lynne J / Homuth, Georg / Hottenga, Jouke-Jan / Huang, Jinyan / Huffman, Jennifer E / Hysi, Pirro G / Ikram, M Arfan / Ingelsson, Erik / Joensuu, Anni / Johansson, Åsa / Jousilahti, Pekka / Jukema, J Wouter / Kähönen, Mika / Kamatani, Yoichiro / Kanoni, Stavroula / Kerr, Shona M / Khan, Nazir M / Koellinger, Philipp / Koistinen, Heikki A / Kooner, Manraj K / Kubo, Michiaki / Kuusisto, Johanna / Lahti, Jari / Launer, Lenore J / Lea, Rodney A / Lehne, Benjamin / Lehtimäki, Terho / Liewald, David C M / Lind, Lars / Loh, Marie / Lokki, Marja-Liisa / London, Stephanie J / Loomis, Stephanie J / Loukola, Anu / Lu, Yingchang / Lumley, Thomas / Lundqvist, Annamari / Männistö, Satu / Marques-Vidal, Pedro / Masciullo, Corrado / Matchan, Angela / Mathias, Rasika A / Matsuda, Koichi / Meigs, James B / Meisinger, Christa / Meitinger, Thomas / Menni, Cristina / Mentch, Frank D / Mihailov, Evelin / Milani, Lili / Montasser, May E / Montgomery, Grant W / Morrison, Alanna / Myers, Richard H / Nadukuru, Rajiv / Navarro, Pau / Nelis, Mari / Nieminen, Markku S / Nolte, Ilja M / O'Connor, George T / Ogunniyi, Adesola / Padmanabhan, Sandosh / Palmas, Walter R / Pankow, James S / Patarcic, Inga / Pavani, Francesca / Peyser, Patricia A / Pietilainen, Kirsi / Poulter, Neil / Prokopenko, Inga / Ralhan, Sarju / Redmond, Paul / Rich, Stephen S / Rissanen, Harri / Robino, Antonietta / Rose, Lynda M / Rose, Richard / Sala, Cinzia / Salako, Babatunde / Salomaa, Veikko / Sarin, Antti-Pekka / Saxena, Richa / Schmidt, Helena / Scott, Laura J / Scott, William R / Sennblad, Bengt / Seshadri, Sudha / Sever, Peter / Shrestha, Smeeta / Smith, Blair H / Smith, Jennifer A / Soranzo, Nicole / Sotoodehnia, Nona / Southam, Lorraine / Stanton, Alice V / Stathopoulou, Maria G / Strauch, Konstantin / Strawbridge, Rona J / Suderman, Matthew J / Tandon, Nikhil / Tang, Sian-Tsun / Taylor, Kent D / Tayo, Bamidele O / Töglhofer, Anna Maria / Tomaszewski, Maciej / Tšernikova, Natalia / Tuomilehto, Jaakko / Uitterlinden, Andre G / Vaidya, Dhananjay / van Hylckama Vlieg, Astrid / van Setten, Jessica / Vasankari, Tuula / Vedantam, Sailaja / Vlachopoulou, Efthymia / Vozzi, Diego / Vuoksimaa, Eero / Waldenberger, Melanie / Ware, Erin B / Wentworth-Shields, William / Whitfield, John B / Wild, Sarah / Willemsen, Gonneke / Yajnik, Chittaranjan S / Yao, Jie / Zaza, Gianluigi / Zhu, Xiaofeng / Project, The BioBank Japan / Salem, Rany M / Melbye, Mads / Bisgaard, Hans / Samani, Nilesh J / Cusi, Daniele / Mackey, David A / Cooper, Richard S / Froguel, Philippe / Pasterkamp, Gerard / Grant, Struan F A / Hakonarson, Hakon / Ferrucci, Luigi / Scott, Robert A / Morris, Andrew D / Palmer, Colin N A / Dedoussis, George / Deloukas, Panos / Bertram, Lars / Lindenberger, Ulman / Berndt, Sonja I / Lindgren, Cecilia M / Timpson, Nicholas J / Tönjes, Anke / Munroe, Patricia B / Sørensen, Thorkild I A / Rotimi, Charles N / Arnett, Donna K / Oldehinkel, Albertine J / Kardia, Sharon L R / Balkau, Beverley / Gambaro, Giovanni / Morris, Andrew P / Eriksson, Johan G / Wright, Margie J / Martin, Nicholas G / Hunt, Steven C / Starr, John M / Deary, Ian J / Griffiths, Lyn R / Tiemeier, Henning / Pirastu, Nicola / Kaprio, Jaakko / Wareham, Nicholas J / Pérusse, Louis / Wilson, James G / Girotto, Giorgia / Caulfield, Mark J / Raitakari, Olli / Boomsma, Dorret I / Gieger, Christian / van der Harst, Pim / Hicks, Andrew A / Kraft, Peter / Sinisalo, Juha / Knekt, Paul / Johannesson, Magnus / Magnusson, Patrik K E / Hamsten, Anders / Schmidt, Reinhold / Borecki, Ingrid B / Vartiainen, Erkki / Becker, Diane M / Bharadwaj, Dwaipayan / Mohlke, Karen L / Boehnke, Michael / van Duijn, Cornelia M / Sanghera, Dharambir K / Teumer, Alexander / Zeggini, Eleftheria / Metspalu, Andres / Gasparini, Paolo / Ulivi, Sheila / Ober, Carole / Toniolo, Daniela / Rudan, Igor / Porteous, David J / Ciullo, Marina / Spector, Tim D / Hayward, Caroline / Dupuis, Josée / Loos, Ruth J F / Wright, Alan F / Chandak, Giriraj R / Vollenweider, Peter / Shuldiner, Alan / Ridker, Paul M / Rotter, Jerome I / Sattar, Naveed / Gyllensten, Ulf / North, Kari E / Pirastu, Mario / Psaty, Bruce M / Weir, David R / Laakso, Markku / Gudnason, Vilmundur / Takahashi, Atsushi / Chambers, John C / Kooner, Jaspal S / Strachan, David P / Campbell, Harry / Hirschhorn, Joel N / Perola, Markus / Polašek, Ozren / Wilson, James F

    Nature

    2015  Volume 523, Issue 7561, Page(s) 459–462

    Abstract: Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is ... ...

    Abstract Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
    MeSH term(s) Biological Evolution ; Blood Pressure/genetics ; Body Height/genetics ; Cholesterol, LDL/genetics ; Cognition ; Cohort Studies ; Educational Status ; Female ; Forced Expiratory Volume/genetics ; Genome, Human/genetics ; Homozygote ; Humans ; Lung Volume Measurements ; Male ; Phenotype
    Chemical Substances Cholesterol, LDL
    Language English
    Publishing date 2015-07-01
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/nature14618
    Database MEDical Literature Analysis and Retrieval System OnLINE

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