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Article ; Online: Gbx1

Buckley, Desirè M / Burroughs-Garcia, Jessica / Kriks, Sonja / Lewandoski, Mark / Waters, Samuel T

2020 Volume 8, Issue 2

Abstract: The molecular mechanisms regulating neurogenesis involve the control of gene expression by transcription factors. ...

Abstract	The molecular mechanisms regulating neurogenesis involve the control of gene expression by transcription factors.
Language	English
Publishing date	2020-04-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720870-9
ISSN	2221-3759 ; 2221-3759
ISSN (online)	2221-3759
ISSN	2221-3759
DOI	10.3390/jdb8020009
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Gbx1 and Gbx2 Are Essential for Normal Patterning and Development of Interneurons and Motor Neurons in the Embryonic Spinal Cord

Buckley, Desirè M. / Burroughs-Garcia, Jessica / Kriks, Sonja / Lewandoski, Mark / Waters, Samuel T.

Journal of developmental biology. 2020 Apr. 01, v. 8, no. 2

2020

Abstract: The molecular mechanisms regulating neurogenesis involve the control of gene expression by transcription factors. Gbx1 and Gbx2, two members of the Gbx family of homeodomain-containing transcription factors, are known for their essential roles in central ...

Abstract	The molecular mechanisms regulating neurogenesis involve the control of gene expression by transcription factors. Gbx1 and Gbx2, two members of the Gbx family of homeodomain-containing transcription factors, are known for their essential roles in central nervous system development. The expression domains of mouse Gbx1 and Gbx2 include regions of the forebrain, anterior hindbrain, and spinal cord. In the spinal cord, Gbx1 and Gbx2 are expressed in PAX2⁺ interneurons of the dorsal horn and ventral motor neuron progenitors. Based on their shared domains of expression and instances of overlap, we investigated the functional relationship between Gbx family members in the developing spinal cord using Gbx1⁻/⁻, Gbx2⁻/⁻, and Gbx1⁻/⁻/Gbx2⁻/⁻ embryos. In situ hybridization analyses of embryonic spinal cords show upregulation of Gbx2 expression in Gbx1⁻/⁻ embryos and upregulation of Gbx1 expression in Gbx2⁻/⁻ embryos. Additionally, our data demonstrate that Gbx genes regulate development of a subset of PAX2⁺ dorsal inhibitory interneurons. While we observe no difference in overall proliferative status of the developing ependymal layer, expansion of proliferative cells into the anatomically defined mantle zone occurs in Gbx mutants. Lastly, our data shows a marked increase in apoptotic cell death in the ventral spinal cord of Gbx mutants during mid-embryonic stages. While our studies reveal that both members of the Gbx gene family are involved in development of subsets of PAX2⁺ dorsal interneurons and survival of ventral motor neurons, Gbx1 and Gbx2 are not sufficient to genetically compensate for the loss of one another. Thus, our studies provide novel insight to the relationship harbored between Gbx1 and Gbx2 in spinal cord development.
Keywords	apoptosis ; brain ; gene expression ; genes ; hybridization ; interneurons ; mice ; motor neurons ; neurodevelopment ; neurogenesis ; spinal cord
Language	English
Dates of publication	2020-0401
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2720870-9
ISSN	2221-3759
ISSN	2221-3759
DOI	10.3390/jdb8020009
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Gbx1 and Gbx2 Are Essential for Normal Patterning and Development of Interneurons and Motor Neurons in the Embryonic Spinal Cord

Desirè M. Buckley / Jessica Burroughs-Garcia / Sonja Kriks / Mark Lewandoski / Samuel T. Waters

Journal of Developmental Biology, Vol 8, Iss 9, p

2020 Volume 9

Abstract: The molecular mechanisms regulating neurogenesis involve the control of gene expression by transcription factors. Gbx1 and Gbx2 , two members of the Gbx family of homeodomain-containing transcription factors, are known for their essential roles in ... ...

Abstract	The molecular mechanisms regulating neurogenesis involve the control of gene expression by transcription factors. Gbx1 and Gbx2 , two members of the Gbx family of homeodomain-containing transcription factors, are known for their essential roles in central nervous system development. The expression domains of mouse Gbx1 and Gbx2 include regions of the forebrain, anterior hindbrain, and spinal cord. In the spinal cord, Gbx1 and Gbx2 are expressed in PAX2 + interneurons of the dorsal horn and ventral motor neuron progenitors. Based on their shared domains of expression and instances of overlap, we investigated the functional relationship between Gbx family members in the developing spinal cord using Gbx1 −/− , Gbx2 −/− , and Gbx1 −/− / Gbx2 −/− embryos. In situ hybridization analyses of embryonic spinal cords show upregulation of Gbx2 expression in Gbx1 −/− embryos and upregulation of Gbx1 expression in Gbx2 −/− embryos. Additionally, our data demonstrate that Gbx genes regulate development of a subset of PAX2 + dorsal inhibitory interneurons. While we observe no difference in overall proliferative status of the developing ependymal layer, expansion of proliferative cells into the anatomically defined mantle zone occurs in Gbx mutants. Lastly, our data shows a marked increase in apoptotic cell death in the ventral spinal cord of Gbx mutants during mid-embryonic stages. While our studies reveal that both members of the Gbx gene family are involved in development of subsets of PAX2 + dorsal interneurons and survival of ventral motor neurons, Gbx1 and Gbx2 are not sufficient to genetically compensate for the loss of one another. Thus, our studies provide novel insight to the relationship harbored between Gbx1 and Gbx2 in spinal cord development.
Keywords	Gbx1 ; Gbx2 ; spinal cord ; mouse ; development ; Biology (General) ; QH301-705.5
Subject code	333
Language	English
Publishing date	2020-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A Double-Blind, Randomized, Placebo-Controlled Trial of Ursodeoxycholic Acid (UDCA) in Parkinson's Disease.

Payne, Thomas / Appleby, Matthew / Buckley, Ellen / van Gelder, Linda M A / Mullish, Benjamin H / Sassani, Matilde / Dunning, Mark J / Hernandez, Dena / Scholz, Sonja W / McNeill, Alisdair / Libri, Vincenzo / Moll, Sarah / Marchesi, Julian R / Taylor, Rosie / Su, Li / Mazzà, Claudia / Jenkins, Thomas M / Foltynie, Thomas / Bandmann, Oliver

Movement disorders : official journal of the Movement Disorder Society

2023 Volume 38, Issue 8, Page(s) 1493–1502

Abstract: Background: Rescue of mitochondrial function is a promising neuroprotective strategy for Parkinson's disease (PD). Ursodeoxycholic acid (UDCA) has shown considerable promise as a mitochondrial rescue agent across a range of preclinical in vitro and in ... ...

Abstract	Background: Rescue of mitochondrial function is a promising neuroprotective strategy for Parkinson's disease (PD). Ursodeoxycholic acid (UDCA) has shown considerable promise as a mitochondrial rescue agent across a range of preclinical in vitro and in vivo models of PD. Objectives: To investigate the safety and tolerability of high-dose UDCA in PD and determine midbrain target engagement. Methods: The UP (UDCA in PD) study was a phase II, randomized, double-blind, placebo-controlled trial of UDCA (30 mg/kg daily, 2:1 randomization UDCA vs. placebo) in 30 participants with PD for 48 weeks. The primary outcome was safety and tolerability. Secondary outcomes included 31-phosphorus magnetic resonance spectroscopy ( Results: UDCA was safe and well tolerated, and only mild transient gastrointestinal adverse events were more frequent in the UDCA treatment group. Midbrain Conclusions: High-dose UDCA is safe and well tolerated in early PD. Larger trials are needed to further evaluate the disease-modifying effect of UDCA in PD. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
MeSH term(s)	Humans ; Parkinson Disease/complications ; Ursodeoxycholic Acid/therapeutic use ; Double-Blind Method
Chemical Substances	Ursodeoxycholic Acid (724L30Y2QR)
Language	English
Publishing date	2023-05-29
Publishing country	United States
Document type	Randomized Controlled Trial ; Clinical Trial, Phase II ; Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	607633-6
ISSN	1531-8257 ; 0885-3185
ISSN (online)	1531-8257
ISSN	0885-3185
DOI	10.1002/mds.29450
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Article ; Online: Opioid use and harms associated with a sustained-release tapentadol formulation: A post-marketing surveillance study.

Peacock, Amy / Gisev, Natasa / Memedovic, Sonja / Larance, Briony / Brown, Jared / Cairns, Rose / Buckley, Nicholas / Farrell, Michael / Degenhardt, Louisa

Drug and alcohol dependence

2019 Volume 206, Page(s) 107697

Abstract: Aims: A sustained-release formulation (SRF) of tapentadol has been marketed in Australia since February 2013. This study examined tapentadol SRF extra-medical use, attractiveness for extra-medical use, and associated harms in Australia.: Methods: ... ...

Abstract	Aims: A sustained-release formulation (SRF) of tapentadol has been marketed in Australia since February 2013. This study examined tapentadol SRF extra-medical use, attractiveness for extra-medical use, and associated harms in Australia. Methods: This post-marketing study comprises analyses of Australian community sales data (2011-2017) for eleven pharmaceutical opioids (prescription and over-the-counter codeine disaggregated); calls to three poisons information centres (covering five of the eight jurisdictions in Australia) related to pharmaceutical opioids and coded by the centres as 'misuse' or 'abuse' (2011-2017); and interviews with people who inject drugs (n = 888) recruited as part of the Illicit Drug Reporting System (IDRS) from all Australian capital cities (2017). Results: Population-level availability of tapentadol SRF increased from market launch, comprising the sixth largest market share of all opioid unit sales, and third greatest share in oral morphine equivalent milligrams sold, in December 2017. Lifetime tapentadol SRF use among the IDRS sample (n = 888) was low (1.5%; 95%CI 0.9-2.5), with few reporting past-6 month non-prescribed use or injection. Non-fatal overdose following tapentadol use was self-reported by less than 1% (95%CI 0.1-0.8). Between 2013-2017, 1.1% (n = 25) of pharmaceutical opioid 'misuse/abuse' calls were related to tapentadol, and predominantly the SRF. Conclusions: Increasing utilisation of tapentadol sustained-release formulation was observed, along with indications of extra-medical use and harms associated with use, although on a smaller scale relative to other opioids. These findings need to be interpreted in the context of the low level of exposure to tapentadol sustained-release formulation among the sentinel population of people who inject drugs.
MeSH term(s)	Adult ; Australia ; Delayed-Action Preparations/adverse effects ; Drug Overdose/epidemiology ; Drug Utilization/statistics & numerical data ; Female ; Humans ; Male ; Opioid-Related Disorders/epidemiology ; Product Surveillance, Postmarketing/statistics & numerical data ; Self Medication ; Substance Abuse, Intravenous/epidemiology ; Tapentadol/adverse effects ; Tapentadol/economics ; Young Adult
Chemical Substances	Delayed-Action Preparations ; Tapentadol (H8A007M585)
Language	English
Publishing date	2019-11-01
Publishing country	Ireland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	519918-9
ISSN	1879-0046 ; 0376-8716
ISSN (online)	1879-0046
ISSN	0376-8716
DOI	10.1016/j.drugalcdep.2019.107697
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Article ; Online: Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng, Hanyin / Capponi, Simona / Wakeling, Emma / Marchi, Elaine / Li, Quan / Zhao, Mengge / Weng, Chunhua / Stefan, Piatek G / Ahlfors, Helena / Kleyner, Robert / Rope, Alan / Lumaka, Aimé / Lukusa, Prosper / Devriendt, Koenraad / Vermeesch, Joris / Posey, Jennifer E / Palmer, Elizabeth E / Murray, Lucinda / Leon, Eyby /

Diaz, Jullianne / Worgan, Lisa / Mallawaarachchi, Amalia / Vogt, Julie / de Munnik, Sonja A / Dreyer, Lauren / Baynam, Gareth / Ewans, Lisa / Stark, Zornitza / Lunke, Sebastian / Gonçalves, Ana R / Soares, Gabriela / Oliveira, Jorge / Fassi, Emily / Willing, Marcia / Waugh, Jeff L / Faivre, Laurence / Riviere, Jean-Baptiste / Moutton, Sebastien / Mohammed, Shehla / Payne, Katelyn / Walsh, Laurence / Begtrup, Amber / Guillen Sacoto, Maria J / Douglas, Ganka / Alexander, Nora / Buckley, Michael F / Mark, Paul R / Adès, Lesley C / Sandaradura, Sarah A / Lupski, James R / Roscioli, Tony / Agrawal, Pankaj B / Kline, Antonie D / Wang, Kai / Timmers, H T Marc / Lyon, Gholson J

Human mutation

2019

Abstract: We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study ... ...

Abstract	We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity, and molecular modelling was performed for those variants falling within structurally characterized domains of TAF1. A novel phenotypic clustering approach was also applied, in which the phenotypes of affected individuals were classified using 51 standardized Human Phenotype Ontology (HPO) terms. Phenotypes associated with TAF1 variants show considerable pleiotropy and clinical variability, but prominent among previously unreported effects were brain morphological abnormalities, seizures, hearing loss, and heart malformations. Our allelic series broadens the phenotypic spectrum of TAF1/MRXS33 intellectual disability syndrome and the range of TAF1 molecular defects in humans. It also illustrates the challenges for determining the pathogenicity of inherited missense variants, particularly for genes mapping to chromosome X. This article is protected by copyright. All rights reserved.
Language	English
Publishing date	2019-10-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.23936
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Article ; Online: Defining the role of common variation in the genomic and biological architecture of adult human height.

Wood, Andrew R / Esko, Tonu / Yang, Jian / Vedantam, Sailaja / Pers, Tune H / Gustafsson, Stefan / Chu, Audrey Y / Estrada, Karol / Luan, Jian'an / Kutalik, Zoltán / Amin, Najaf / Buchkovich, Martin L / Croteau-Chonka, Damien C / Day, Felix R / Duan, Yanan / Fall, Tove / Fehrmann, Rudolf / Ferreira, Teresa / Jackson, Anne U /

Karjalainen, Juha / Lo, Ken Sin / Locke, Adam E / Mägi, Reedik / Mihailov, Evelin / Porcu, Eleonora / Randall, Joshua C / Scherag, André / Vinkhuyzen, Anna A E / Westra, Harm-Jan / Winkler, Thomas W / Workalemahu, Tsegaselassie / Zhao, Jing Hua / Absher, Devin / Albrecht, Eva / Anderson, Denise / Baron, Jeffrey / Beekman, Marian / Demirkan, Ayse / Ehret, Georg B / Feenstra, Bjarke / Feitosa, Mary F / Fischer, Krista / Fraser, Ross M / Goel, Anuj / Gong, Jian / Justice, Anne E / Kanoni, Stavroula / Kleber, Marcus E / Kristiansson, Kati / Lim, Unhee / Lotay, Vaneet / Lui, Julian C / Mangino, Massimo / Mateo Leach, Irene / Medina-Gomez, Carolina / Nalls, Michael A / Nyholt, Dale R / Palmer, Cameron D / Pasko, Dorota / Pechlivanis, Sonali / Prokopenko, Inga / Ried, Janina S / Ripke, Stephan / Shungin, Dmitry / Stancáková, Alena / Strawbridge, Rona J / Sung, Yun Ju / Tanaka, Toshiko / Teumer, Alexander / Trompet, Stella / van der Laan, Sander W / van Setten, Jessica / Van Vliet-Ostaptchouk, Jana V / Wang, Zhaoming / Yengo, Loïc / Zhang, Weihua / Afzal, Uzma / Arnlöv, Johan / Arscott, Gillian M / Bandinelli, Stefania / Barrett, Amy / Bellis, Claire / Bennett, Amanda J / Berne, Christian / Blüher, Matthias / Bolton, Jennifer L / Böttcher, Yvonne / Boyd, Heather A / Bruinenberg, Marcel / Buckley, Brendan M / Buyske, Steven / Caspersen, Ida H / Chines, Peter S / Clarke, Robert / Claudi-Boehm, Simone / Cooper, Matthew / Daw, E Warwick / De Jong, Pim A / Deelen, Joris / Delgado, Graciela / Denny, Josh C / Dhonukshe-Rutten, Rosalie / Dimitriou, Maria / Doney, Alex S F / Dörr, Marcus / Eklund, Niina / Eury, Elodie / Folkersen, Lasse / Garcia, Melissa E / Geller, Frank / Giedraitis, Vilmantas / Go, Alan S / Grallert, Harald / Grammer, Tanja B / Gräßler, Jürgen / Grönberg, Henrik / de Groot, Lisette C P G M / Groves, Christopher J / Haessler, Jeffrey / Hall, Per / Haller, Toomas / Hallmans, Goran / Hannemann, Anke / Hartman, Catharina A / Hassinen, Maija / Hayward, Caroline / Heard-Costa, Nancy L / Helmer, Quinta / Hemani, Gibran / Henders, Anjali K / Hillege, Hans L / Hlatky, Mark A / Hoffmann, Wolfgang / Hoffmann, Per / Holmen, Oddgeir / Houwing-Duistermaat, Jeanine J / Illig, Thomas / Isaacs, Aaron / James, Alan L / Jeff, Janina / Johansen, Berit / Johansson, Åsa / Jolley, Jennifer / Juliusdottir, Thorhildur / Junttila, Juhani / Kho, Abel N / Kinnunen, Leena / Klopp, Norman / Kocher, Thomas / Kratzer, Wolfgang / Lichtner, Peter / Lind, Lars / Lindström, Jaana / Lobbens, Stéphane / Lorentzon, Mattias / Lu, Yingchang / Lyssenko, Valeriya / Magnusson, Patrik K E / Mahajan, Anubha / Maillard, Marc / McArdle, Wendy L / McKenzie, Colin A / McLachlan, Stela / McLaren, Paul J / Menni, Cristina / Merger, Sigrun / Milani, Lili / Moayyeri, Alireza / Monda, Keri L / Morken, Mario A / Müller, Gabriele / Müller-Nurasyid, Martina / Musk, Arthur W / Narisu, Narisu / Nauck, Matthias / Nolte, Ilja M / Nöthen, Markus M / Oozageer, Laticia / Pilz, Stefan / Rayner, Nigel W / Renstrom, Frida / Robertson, Neil R / Rose, Lynda M / Roussel, Ronan / Sanna, Serena / Scharnagl, Hubert / Scholtens, Salome / Schumacher, Fredrick R / Schunkert, Heribert / Scott, Robert A / Sehmi, Joban / Seufferlein, Thomas / Shi, Jianxin / Silventoinen, Karri / Smit, Johannes H / Smith, Albert Vernon / Smolonska, Joanna / Stanton, Alice V / Stirrups, Kathleen / Stott, David J / Stringham, Heather M / Sundström, Johan / Swertz, Morris A / Syvänen, Ann-Christine / Tayo, Bamidele O / Thorleifsson, Gudmar / Tyrer, Jonathan P / van Dijk, Suzanne / van Schoor, Natasja M / van der Velde, Nathalie / van Heemst, Diana / van Oort, Floor V A / Vermeulen, Sita H / Verweij, Niek / Vonk, Judith M / Waite, Lindsay L / Waldenberger, Melanie / Wennauer, Roman / Wilkens, Lynne R / Willenborg, Christina / Wilsgaard, Tom / Wojczynski, Mary K / Wong, Andrew / Wright, Alan F / Zhang, Qunyuan / Arveiler, Dominique / Bakker, Stephan J L / Beilby, John / Bergman, Richard N / Bergmann, Sven / Biffar, Reiner / Blangero, John / Boomsma, Dorret I / Bornstein, Stefan R / Bovet, Pascal / Brambilla, Paolo / Brown, Morris J / Campbell, Harry / Caulfield, Mark J / Chakravarti, Aravinda / Collins, Rory / Collins, Francis S / Crawford, Dana C / Cupples, L Adrienne / Danesh, John / de Faire, Ulf / den Ruijter, Hester M / Erbel, Raimund / Erdmann, Jeanette / Eriksson, Johan G / Farrall, Martin / Ferrannini, Ele / Ferrières, Jean / Ford, Ian / Forouhi, Nita G / Forrester, Terrence / Gansevoort, Ron T / Gejman, Pablo V / Gieger, Christian / Golay, Alain / Gottesman, Omri / Gudnason, Vilmundur / Gyllensten, Ulf / Haas, David W / Hall, Alistair S / Harris, Tamara B / Hattersley, Andrew T / Heath, Andrew C / Hengstenberg, Christian / Hicks, Andrew A / Hindorff, Lucia A / Hingorani, Aroon D / Hofman, Albert / Hovingh, G Kees / Humphries, Steve E / Hunt, Steven C / Hypponen, Elina / Jacobs, Kevin B / Jarvelin, Marjo-Riitta / Jousilahti, Pekka / Jula, Antti M / Kaprio, Jaakko / Kastelein, John J P / Kayser, Manfred / Kee, Frank / Keinanen-Kiukaanniemi, Sirkka M / Kiemeney, Lambertus A / Kooner, Jaspal S / Kooperberg, Charles / Koskinen, Seppo / Kovacs, Peter / Kraja, Aldi T / Kumari, Meena / Kuusisto, Johanna / Lakka, Timo A / Langenberg, Claudia / Le Marchand, Loic / Lehtimäki, Terho / Lupoli, Sara / Madden, Pamela A F / Männistö, Satu / Manunta, Paolo / Marette, André / Matise, Tara C / McKnight, Barbara / Meitinger, Thomas / Moll, Frans L / Montgomery, Grant W / Morris, Andrew D / Morris, Andrew P / Murray, Jeffrey C / Nelis, Mari / Ohlsson, Claes / Oldehinkel, Albertine J / Ong, Ken K / Ouwehand, Willem H / Pasterkamp, Gerard / Peters, Annette / Pramstaller, Peter P / Price, Jackie F / Qi, Lu / Raitakari, Olli T / Rankinen, Tuomo / Rao, D C / Rice, Treva K / Ritchie, Marylyn / Rudan, Igor / Salomaa, Veikko / Samani, Nilesh J / Saramies, Jouko / Sarzynski, Mark A / Schwarz, Peter E H / Sebert, Sylvain / Sever, Peter / Shuldiner, Alan R / Sinisalo, Juha / Steinthorsdottir, Valgerdur / Stolk, Ronald P / Tardif, Jean-Claude / Tönjes, Anke / Tremblay, Angelo / Tremoli, Elena / Virtamo, Jarmo / Vohl, Marie-Claude / Amouyel, Philippe / Asselbergs, Folkert W / Assimes, Themistocles L / Bochud, Murielle / Boehm, Bernhard O / Boerwinkle, Eric / Bottinger, Erwin P / Bouchard, Claude / Cauchi, Stéphane / Chambers, John C / Chanock, Stephen J / Cooper, Richard S / de Bakker, Paul I W / Dedoussis, George / Ferrucci, Luigi / Franks, Paul W / Froguel, Philippe / Groop, Leif C / Haiman, Christopher A / Hamsten, Anders / Hayes, M Geoffrey / Hui, Jennie / Hunter, David J / Hveem, Kristian / Jukema, J Wouter / Kaplan, Robert C / Kivimaki, Mika / Kuh, Diana / Laakso, Markku / Liu, Yongmei / Martin, Nicholas G / März, Winfried / Melbye, Mads / Moebus, Susanne / Munroe, Patricia B / Njølstad, Inger / Oostra, Ben A / Palmer, Colin N A / Pedersen, Nancy L / Perola, Markus / Pérusse, Louis / Peters, Ulrike / Powell, Joseph E / Power, Chris / Quertermous, Thomas / Rauramaa, Rainer / Reinmaa, Eva / Ridker, Paul M / Rivadeneira, Fernando / Rotter, Jerome I / Saaristo, Timo E / Saleheen, Danish / Schlessinger, David / Slagboom, P Eline / Snieder, Harold / Spector, Tim D / Strauch, Konstantin / Stumvoll, Michael / Tuomilehto, Jaakko / Uusitupa, Matti / van der Harst, Pim / Völzke, Henry / Walker, Mark / Wareham, Nicholas J / Watkins, Hugh / Wichmann, H-Erich / Wilson, James F / Zanen, Pieter / Deloukas, Panos / Heid, Iris M / Lindgren, Cecilia M / Mohlke, Karen L / Speliotes, Elizabeth K / Thorsteinsdottir, Unnur / Barroso, Inês / Fox, Caroline S / North, Kari E / Strachan, David P / Beckmann, Jacques S / Berndt, Sonja I / Boehnke, Michael / Borecki, Ingrid B / McCarthy, Mark I / Metspalu, Andres / Stefansson, Kari / Uitterlinden, André G / van Duijn, Cornelia M / Franke, Lude / Willer, Cristen J / Price, Alkes L / Lettre, Guillaume / Loos, Ruth J F / Weedon, Michael N / Ingelsson, Erik / O'Connell, Jeffrey R / Abecasis, Goncalo R / Chasman, Daniel I / Goddard, Michael E / Visscher, Peter M / Hirschhorn, Joel N / Frayling, Timothy M

Nature genetics

2014 Volume 46, Issue 11, Page(s) 1173–1186

Abstract: Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that ... ...

Abstract	Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
MeSH term(s)	Adult ; Analysis of Variance ; Body Height/genetics ; Genetic Variation/genetics ; Genetics, Population ; Genome-Wide Association Study/methods ; Humans ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide/genetics ; White People/genetics
Language	English
Publishing date	2014-10-05
Publishing country	United States
Document type	Journal Article ; Meta-Analysis
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.3097
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Article: Gbx1 and Gbx2 Are Essential for Normal Patterning and Development of Interneurons and Motor Neurons in the Embryonic Spinal Cord

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Article ; Online: Gbx1 and Gbx2 Are Essential for Normal Patterning and Development of Interneurons and Motor Neurons in the Embryonic Spinal Cord

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Article ; Online: A Double-Blind, Randomized, Placebo-Controlled Trial of Ursodeoxycholic Acid (UDCA) in Parkinson's Disease.

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Article ; Online: Opioid use and harms associated with a sustained-release tapentadol formulation: A post-marketing surveillance study.

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Article ; Online: Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

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Article ; Online: Defining the role of common variation in the genomic and biological architecture of adult human height.

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