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  1. Article ; Online: Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource.

    Styrkarsdottir, Unnur / Lund, Sigrun H / Thorleifsson, Gudmar / Saevarsdottir, Saedis / Gudbjartsson, Daniel F / Thorsteinsdottir, Unnur / Stefansson, Kari

    Arthritis & rheumatology (Hoboken, N.J.)

    2022  Volume 75, Issue 4, Page(s) 544–552

    Abstract: Objective: The level of cartilage acidic protein 1 (CRTAC1) in plasma was recently discovered to be associated with osteoarthritis (OA) risk and progression to joint replacement in Iceland. This study was undertaken to validate these findings in an ... ...

    Abstract Objective: The level of cartilage acidic protein 1 (CRTAC1) in plasma was recently discovered to be associated with osteoarthritis (OA) risk and progression to joint replacement in Iceland. This study was undertaken to validate these findings in an independent population.
    Methods: In this study, 1,462 plasma proteins were measured in 54,265 participants from the UK Biobank on the Olink Explore platform. We analyzed the association of plasma proteins with prevalent OA, incident OA, and progression to joint replacement. We assessed the specificity of OA association through comparison of associations with inflammatory joint diseases and with previous joint replacement.
    Results: The CRTAC1 protein showed the strongest association with prevalent knee OA (odds ratio [OR] 1.34 [95% confidence interval (95% CI) 1.27, 1.41]) and was associated with hip OA (OR 1.19 [95% CI 1.11, 1.28]). It predicted incident diagnosis of OA in the knee (hazard ratio [HR] 1.40 [95% CI 1.35, 1.46]) and hip (HR 1.25 [95% CI 1.19, 1.31]), as well as progression to joint replacement (HR 1.20 [95% CI 1.08, 1.33] for the knee and HR 1.22 [95% CI 1.08, 1.38] for the hip), while no association was found with inflammatory joint diseases. Individuals in the highest quintile of risk based on CRTAC1 level, age, sex, and body mass index had a 10-fold risk of knee or hip OA within 5 years compared to those in the lowest quintile. Adding aggrecan core protein (ACAN) and neurocan core protein (NCAN) to the model improved the prediction of OA but not joint replacement. Furthermore, we replicated the association of CUB domain-containing protein 1 with prior joint replacement.
    Conclusion: Plasma CRTAC1 is a specific biomarker for OA and a predictor of OA risk and progression to joint replacement. Adding ACAN and NCAN protein levels to the CRTAC1 model improved the prediction of OA.
    MeSH term(s) Humans ; Arthroplasty, Replacement ; Calcium-Binding Proteins ; Cartilage ; Osteoarthritis, Hip/epidemiology ; Osteoarthritis, Hip/surgery ; Osteoarthritis, Knee/epidemiology ; Osteoarthritis, Knee/surgery ; United Kingdom/epidemiology
    Chemical Substances Calcium-Binding Proteins ; CRTAC1 protein, human
    Language English
    Publishing date 2022-12-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2756371-6
    ISSN 2326-5205 ; 2326-5191
    ISSN (online) 2326-5205
    ISSN 2326-5191
    DOI 10.1002/art.42376
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Obesity variants in the GIPR gene do not associate with risk of fracture or bone mineral density.

    Styrkarsdottir, Unnur / Tragante, Vinicius / Stefansdottir, Lilja / Thorleifsson, Gudmar / Oddsson, Asmundur / Sørensen, Erik / Erikstrup, Christian / Schwarz, Peter / Jørgensen, Henrik Løvendahl / Lauritzen, Jes Bruun / Brunak, Søren / Knowlton, Kirk U / Nadauld, Lincoln D / Ullum, Henrik / Pedersen, Ole Birger Vesterager / Ostrowski, Sisse Rye / Holm, Hilma / Gudbjartsson, Daniel F / Sulem, Patrick /
    Stefansson, Kari

    The Journal of clinical endocrinology and metabolism

    2023  

    Abstract: Objective: The objective of this study was to investigate the risk of fracture and bone mineral density (BMD) of sequence variants in GIPR that reduce the activity of the GIPR receptor and have been associated with reduced body mass index (BMI).: ... ...

    Abstract Objective: The objective of this study was to investigate the risk of fracture and bone mineral density (BMD) of sequence variants in GIPR that reduce the activity of the GIPR receptor and have been associated with reduced body mass index (BMI).
    Methods: We analysed the association of three missense variants in GIPR, a common variant, rs1800437 (p.Glu354Gln), and two rare variants, rs139215588 (p.Arg190Gln) and rs143430880 (p.Glu288Gly), as well as a burden of predicted loss of function (LoF) variants with risk of fracture and with BMD in a large meta-analysis of up to 1.2 million participants. We analysed associations with fractures at different skeletal sites in the general population; any fractures, hip fractures, vertebral fractures and forearm fractures, and specifically non-vertebral and osteoporotic fractures in postmenopausal women. We also evaluated associations with BMD at the lumbar spine, femoral neck, and total body measured with dual-energy X-ray absorptiometry (DXA), and with BMD estimated from heel ultrasound (eBMD).
    Results: None of the three missense variants in GIPR associated significantly with increased risk of fractures or with lower BMD. Burden of LoF variants in GIPR were not associated with fractures or with BMD measured with clinically validated DXA, but associated with eBMD.
    Conclusion: Missense variants in GIPR, or burden of LoF variants in the gene, do not associate with risk of fractures or with lower BMD.
    Language English
    Publishing date 2023-12-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgad734
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect.

    Styrkarsdottir, Unnur / Stefansdottir, Lilja / Thorleifsson, Gudmar / Stefansson, Olafur A / Saevarsdottir, Saedis / Lund, Sigrun H / Rafnar, Thorunn / Hoshijima, Kazuyuki / Novak, Kendra / Oreiro, Natividad / Rego-Perez, Ignacio / Hansen, Channing / Kazmers, Nikolas / Kiemeney, Lambertus A / Blanco, Francisco J / Barker, Tyler / Kloppenburg, Margreet / Jurynec, Michael J / Gudbjartsson, Daniel F /
    Jonsson, Helgi / Thorsteinsdottir, Unnur / Stefansson, Kari

    Annals of the rheumatic diseases

    2023  Volume 82, Issue 6, Page(s) 873–880

    Abstract: Objectives: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been associated with hand OA but none with EHOA.: ... ...

    Abstract Objectives: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been associated with hand OA but none with EHOA.
    Methods: We performed meta-analysis of EHOA in 1484 cases and 550 680 controls, from 5 populations. To identify causal genes, we performed eQTL and plasma pQTL analyses, and developed one zebrafish mutant. We analysed associations of variants with other traits and estimated shared genetics between EHOA and other traits.
    Results: Four common sequence variants associated with EHOA, all with relatively high effect. Rs17013495 (
    Conclusions: We report on significant genetic associations with EHOA. The results support the view of EHOA as a form of severe hand OA and partly separate it from OA in larger joints.
    MeSH term(s) Animals ; Hand Joints/diagnostic imaging ; Zebrafish/genetics ; Hand ; Osteoarthritis/complications ; Arthritis, Rheumatoid/complications
    Language English
    Publishing date 2023-03-17
    Publishing country England
    Document type Meta-Analysis ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 7090-7
    ISSN 1468-2060 ; 0003-4967
    ISSN (online) 1468-2060
    ISSN 0003-4967
    DOI 10.1136/ard-2022-223468
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large-Scale Proteomics Scan in Iceland.

    Styrkarsdottir, Unnur / Lund, Sigrun H / Saevarsdottir, Saedis / Magnusson, Magnus I / Gunnarsdottir, Kristbjorg / Norddahl, Gudmundur L / Frigge, Michael L / Ivarsdottir, Erna V / Bjornsdottir, Gyda / Holm, Hilma / Thorgeirsson, Gudmundur / Rafnar, Thorunn / Jonsdottir, Ingileif / Ingvarsson, Thorvaldur / Jonsson, Helgi / Sulem, Patrick / Thorsteinsdottir, Unnur / Gudbjartsson, Daniel / Stefansson, Kari

    Arthritis & rheumatology (Hoboken, N.J.)

    2021  Volume 73, Issue 11, Page(s) 2025–2034

    Abstract: Objective: Biomarkers for diagnosis and progression of osteoarthritis (OA) are lacking. This study was undertaken to identify circulating biomarkers for OA that could predict disease occurrence and/or progression to joint replacement.: Methods: Using ...

    Abstract Objective: Biomarkers for diagnosis and progression of osteoarthritis (OA) are lacking. This study was undertaken to identify circulating biomarkers for OA that could predict disease occurrence and/or progression to joint replacement.
    Methods: Using the SomaScan platform, we measured 4,792 proteins in plasma from 37,278 individuals, of whom 12,178 individuals had OA and 2,524 had undergone joint replacement. We performed a case-control study for identification of potential protein biomarkers for hip, knee, and/or hand OA, and a prospective study for identification of biomarkers for joint replacement.
    Results: Among the large panel of plasma proteins assessed, cartilage acidic protein 1 (CRTAC1) was the most strongly associated with both OA diagnosis (odds ratio 1.46 [95% confidence interval 1.41-1.52] for knee OA, odds ratio 1.36 [95% confidence interval 1.29-1.43] for hip OA, and odds ratio 1.33 [95% confidence interval 1.26-1.40] for hand OA) and progression to joint replacement (hazard ratio 1.40 [95% confidence interval 1.30-1.51] for knee replacement and hazard ratio 1.31 [95% confidence interval 1.19-1.45] for hip replacement). Patients with OA who were in the highest quintile of risk of joint replacement, based on known risk factors (i.e., age, sex, and body mass index) and plasma CRTAC1 level, were 16 times more likely to undergo knee replacement within 5 years of plasma sample collection than those in the lowest quintile, and 6.5 times more likely to undergo hip replacement. CRTAC1 was not associated with other types of inflammatory arthritis. A specific protein profile was identified in those patients who had undergone joint replacement prior to plasma sample collection.
    Conclusion: Through a hypothesis-free approach, we identified CRTAC1 in plasma as a novel promising candidate biomarker for OA that is both associated with occurrence of OA and predictive of progression to joint replacement. This biomarker might also be useful in the selection of suitable patients for clinical trial enrollment.
    MeSH term(s) Adult ; Aged ; Arthroplasty, Replacement ; Biomarkers/blood ; Calcium-Binding Proteins/blood ; Case-Control Studies ; Disease Progression ; Female ; Humans ; Iceland ; Male ; Middle Aged ; Osteoarthritis/blood ; Osteoarthritis/diagnosis ; Osteoarthritis/surgery ; Prospective Studies ; Proteomics
    Chemical Substances Biomarkers ; CRTAC1 protein, human ; Calcium-Binding Proteins
    Language English
    Publishing date 2021-09-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2756371-6
    ISSN 2326-5205 ; 2326-5191
    ISSN (online) 2326-5205
    ISSN 2326-5191
    DOI 10.1002/art.41793
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement.

    Henkel, Cecilie / Styrkársdóttir, Unnur / Thorleifsson, Gudmar / Stefánsdóttir, Lilja / Björnsdóttir, Gyda / Banasik, Karina / Brunak, Søren / Erikstrup, Christian / Dinh, Khoa Manh / Hansen, Thomas Folkmann / Nielsen, Kaspar René / Bruun, Mie Topholm / Dowsett, Joseph / Brodersen, Thorsten / Thorgeirsson, Thorgeir E / Gromov, Kirill / Boesen, Mikael Ploug / Ullum, Henrik / Ostrowski, Sisse Rye /
    Pedersen, Ole Birger / Stefánsson, Kári / Troelsen, Anders

    Annals of the rheumatic diseases

    2022  Volume 82, Issue 3, Page(s) 384–392

    Abstract: Objectives: Osteoarthritis is a common and severe, multifactorial disease with a well-established genetic component. However, little is known about how genetics affect disease progression, and thereby the need for joint placement. Therefore, we aimed to ...

    Abstract Objectives: Osteoarthritis is a common and severe, multifactorial disease with a well-established genetic component. However, little is known about how genetics affect disease progression, and thereby the need for joint placement. Therefore, we aimed to investigate whether the genetic associations of knee and hip osteoarthritis differ between patients treated with joint replacement and patients without joint replacement.
    Methods: We included knee and hip osteoarthritis cases along with healthy controls, altogether counting >700 000 individuals. The cases were divided into two groups based on joint replacement status (surgical vs non-surgical) and included in four genome-wide association meta-analyses: surgical knee osteoarthritis (N = 22 525), non-surgical knee osteoarthritis (N = 38 626), surgical hip osteoarthritis (N = 20 221) and non-surgical hip osteoarthritis (N = 17 847). In addition, we tested for genetic correlation between the osteoarthritis groups and the pain phenotypes intervertebral disc disorder, dorsalgia, fibromyalgia, migraine and joint pain.
    Results: We identified 52 sequence variants associated with knee osteoarthritis (surgical: 17, non-surgical: 3) or hip osteoarthritis (surgical: 34, non-surgical: 1). For the surgical phenotypes, we identified 10 novel variants, including genes involved in autophagy (rs2447606 in
    Conclusions: Our results indicate differences in genetic associations between knee and hip osteoarthritis depending on joint replacement status.
    MeSH term(s) Humans ; Osteoarthritis, Hip/genetics ; Osteoarthritis, Hip/surgery ; Osteoarthritis, Hip/complications ; Osteoarthritis, Knee/genetics ; Osteoarthritis, Knee/surgery ; Osteoarthritis, Knee/complications ; Arthroplasty, Replacement, Knee ; Genome-Wide Association Study ; Mechanotransduction, Cellular ; Arthroplasty, Replacement, Hip ; Knee Joint/surgery ; Pain ; Ion Channels
    Chemical Substances PIEZO1 protein, human ; Ion Channels
    Language English
    Publishing date 2022-11-14
    Publishing country England
    Document type Meta-Analysis ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 7090-7
    ISSN 1468-2060 ; 0003-4967
    ISSN (online) 1468-2060
    ISSN 0003-4967
    DOI 10.1136/ard-2022-223199
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: An atlas of genetic determinants of forearm fracture.

    Nethander, Maria / Movérare-Skrtic, Sofia / Kämpe, Anders / Coward, Eivind / Reimann, Ene / Grahnemo, Louise / Borbély, Éva / Helyes, Zsuzsanna / Funck-Brentano, Thomas / Cohen-Solal, Martine / Tuukkanen, Juha / Koskela, Antti / Wu, Jianyao / Li, Lei / Lu, Tianyuan / Gabrielsen, Maiken E / Mägi, Reedik / Hoff, Mari / Lerner, Ulf H /
    Henning, Petra / Ullum, Henrik / Erikstrup, Christian / Brunak, Søren / Langhammer, Arnulf / Tuomi, Tiinamaija / Oddsson, Asmundur / Stefansson, Kari / Pettersson-Kymmer, Ulrika / Ostrowski, Sisse Rye / Pedersen, Ole Birger Vesterager / Styrkarsdottir, Unnur / Mäkitie, Outi / Hveem, Kristian / Richards, J Brent / Ohlsson, Claes

    Nature genetics

    2023  Volume 55, Issue 11, Page(s) 1820–1830

    Abstract: Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high ... ...

    Abstract Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability. To establish an atlas of the genetic determinants of forearm fractures, we performed genome-wide association analyses including 100,026 forearm fracture cases. We identified 43 loci, including 26 new fracture loci. Although most fracture loci associated with bone mineral density, we also identified loci that primarily regulate bone quality parameters. Functional studies of one such locus, at TAC4, revealed that Tac4
    MeSH term(s) Animals ; Mice ; Forearm ; Genome-Wide Association Study ; Fractures, Bone/genetics ; Bone Density/genetics ; Risk Factors
    Language English
    Publishing date 2023-11-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-023-01527-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: A perspective on muscle phenotyping in musculoskeletal research.

    Foessl, Ines / Ackert-Bicknell, Cheryl L / Kague, Erika / Laskou, Faidra / Jakob, Franz / Karasik, David / Obermayer-Pietsch, Barbara / Alonso, Nerea / Bjørnerem, Åshild / Brandi, Maria Luisa / Busse, Björn / Calado, Ângelo / Cebi, Alper Han / Christou, Maria / Curran, Kathleen M / Hald, Jannie Dahl / Semeraro, Maria Donatella / Douni, Eleni / Duncan, Emma L /
    Duran, Ivan / Formosa, Melissa M / Gabet, Yankel / Ghatan, Samuel / Gkitakou, Artemis / Hassler, Eva Maria / Högler, Wolfgang / Heino, Terhi J / Hendrickx, Gretl / Khashayar, Patricia / Kiel, Douglas P / Koromani, Fjorda / Langdahl, Bente / Lopes, Philippe / Mäkitie, Outi / Maurizi, Antonio / Medina-Gomez, Carolina / Ntzani, Evangelia / Ohlsson, Claes / Prijatelj, Vid / Rabionet, Raquel / Reppe, Sjur / Rivadeneira, Fernando / Roshchupkin, Gennady / Sharma, Neha / Søe, Kent / Styrkarsdottir, Unnur / Szulc, Pavel / Teti, Anna / Tobias, Jon / Valjevac, Amina / van de Peppel, Jeroen / van der Eerden, Bram / van Rietbergen, Bert / Zekic, Tatjana / Zillikens, M Carola

    Trends in endocrinology and metabolism: TEM

    2024  

    Abstract: Musculoskeletal research should synergistically investigate bone and muscle to inform approaches for maintaining mobility and to avoid bone fractures. The relationship between sarcopenia and osteoporosis, integrated in the term 'osteosarcopenia', is ... ...

    Abstract Musculoskeletal research should synergistically investigate bone and muscle to inform approaches for maintaining mobility and to avoid bone fractures. The relationship between sarcopenia and osteoporosis, integrated in the term 'osteosarcopenia', is underscored by the close association shown between these two conditions in many studies, whereby one entity emerges as a predictor of the other. In a recent workshop of Working Group (WG) 2 of the EU Cooperation in Science and Technology (COST) Action 'Genomics of MusculoSkeletal traits Translational Network' (GEMSTONE) consortium (CA18139), muscle characterization was highlighted as being important, but currently under-recognized in the musculoskeletal field. Here, we summarize the opinions of the Consortium and research questions around translational and clinical musculoskeletal research, discussing muscle phenotyping in human experimental research and in two animal models: zebrafish and mouse.
    Language English
    Publishing date 2024-03-28
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1042384-9
    ISSN 1879-3061 ; 1043-2760
    ISSN (online) 1879-3061
    ISSN 1043-2760
    DOI 10.1016/j.tem.2024.01.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify

    Boer, Cindy Germaine / Yau, Michelle S / Rice, Sarah J / Coutinho de Almeida, Rodrigo / Cheung, Kathleen / Styrkarsdottir, Unnur / Southam, Lorraine / Broer, Linda / Wilkinson, Jeremy Mark / Uitterlinden, André G / Zeggini, Eleftheria / Felson, David / Loughlin, John / Young, Mariel / Capellini, Terence Dante / Meulenbelt, Ingrid / van Meurs, Joyce Bj

    Annals of the rheumatic diseases

    2020  Volume 80, Issue 3, Page(s) 367–375

    Abstract: Background: Despite recent advances in the understanding of the genetic architecture of osteoarthritis (OA), only two genetic loci have been identified for OA of the hand, in part explained by the complexity of the different hand joints and ... ...

    Abstract Background: Despite recent advances in the understanding of the genetic architecture of osteoarthritis (OA), only two genetic loci have been identified for OA of the hand, in part explained by the complexity of the different hand joints and heterogeneity of OA pathology.
    Methods: We used data from the Rotterdam Study (RSI, RSII and RSIII) to create three hand OA phenotypes based on clustering patterns of radiographic OA severity to increase power in our modest discovery genome-wide association studies in the RS (n=8700), and sought replication in an independent cohort, the Framingham Heart Study (n=1203). We used multiple approaches that leverage different levels of information and functional data to further investigate the underlying biological mechanisms and candidate genes for replicated loci. We also attempted to replicate known OA loci at other joint sites, including the hips and knees.
    Results: We found two novel genome-wide significant loci for OA in the thumb joints. We identified
    Conclusions: We identified a robust novel genetic locus for hand OA on chromosome 1, of which
    MeSH term(s) Cluster Analysis ; Fibrillar Collagens/genetics ; Genome-Wide Association Study ; Hand Joints/diagnostic imaging ; Humans ; Osteoarthritis/complications ; Osteoarthritis/diagnostic imaging ; Osteoarthritis/genetics ; Phenotype ; Wnt Proteins/genetics
    Chemical Substances COL27A1 protein, human ; Fibrillar Collagens ; WNT9A protein, human ; Wnt Proteins
    Language English
    Publishing date 2020-10-14
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 7090-7
    ISSN 1468-2060 ; 0003-4967
    ISSN (online) 1468-2060
    ISSN 0003-4967
    DOI 10.1136/annrheumdis-2020-217834
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

    Ivarsdottir, Erna V / Benonisdottir, Stefania / Thorleifsson, Gudmar / Sulem, Patrick / Oddsson, Asmundur / Styrkarsdottir, Unnur / Kristmundsdottir, Snaedis / Arnadottir, Gudny A / Thorgeirsson, Gudmundur / Jonsdottir, Ingileif / Zoega, Gunnar M / Thorsteinsdottir, Unnur / Gudbjartsson, Daniel F / Jonasson, Fridbert / Holm, Hilma / Stefansson, Kari

    Nature communications

    2019  Volume 10, Issue 1, Page(s) 1284

    Abstract: The corneal endothelium is vital for transparency and proper hydration of the cornea. Here, we conduct a genome-wide association study of corneal endothelial cell density (cells/ ... ...

    Abstract The corneal endothelium is vital for transparency and proper hydration of the cornea. Here, we conduct a genome-wide association study of corneal endothelial cell density (cells/mm
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome/genetics ; Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome/metabolism ; Case-Control Studies ; Cell Count ; Cell Size ; Corneal Dystrophies, Hereditary/diagnosis ; Corneal Dystrophies, Hereditary/genetics ; Corneal Dystrophies, Hereditary/pathology ; Endothelial Cells/metabolism ; Endothelial Cells/pathology ; Endothelium, Corneal/metabolism ; Endothelium, Corneal/pathology ; Female ; Gene Expression ; Gene Expression Profiling ; Genetic Loci ; Genome-Wide Association Study ; Glaucoma/diagnosis ; Glaucoma/genetics ; Glaucoma/pathology ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Polymorphism, Genetic ; Whole Genome Sequencing
    Chemical Substances ANAPC1 protein, human ; Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome
    Language English
    Publishing date 2019-03-20
    Publishing country England
    Document type Journal Article ; 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/s41467-019-09304-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Author Correction: The rate of meiotic gene conversion varies by sex and age.

    Halldorsson, Bjarni V / Hardarson, Marteinn T / Kehr, Birte / Styrkarsdottir, Unnur / Gylfason, Arnaldur / Thorleifsson, Gudmar / Zink, Florian / Jonasdottir, Adalbjorg / Jonasdottir, Aslaug / Sulem, Patrick / Masson, Gisli / Thorsteinsdottir, Unnur / Helgason, Agnar / Kong, Augustine / Gudbjartsson, Daniel F / Stefansson, Kari

    Nature genetics

    2018  Volume 50, Issue 11, Page(s) 1616

    Abstract: In the version of this article published, statements about the impact of insertions and deletions on gene conversions were incorrect. We reported a bias toward deletions, whereas in fact the bias was toward insertions. We are deeply indebted to Laurent ... ...

    Abstract In the version of this article published, statements about the impact of insertions and deletions on gene conversions were incorrect. We reported a bias toward deletions, whereas in fact the bias was toward insertions. We are deeply indebted to Laurent Duret and Brice Letcher for noticing this mistake in our manuscript. The following statements are incorrect in the published manuscript.
    Language English
    Publishing date 2018-09-17
    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/s41588-018-0228-3
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