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A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

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dc.contributor Landspitali - The National University Hospital of Iceland
dc.contributor.author DBDS Genetic Consortium
dc.date.accessioned 2022-05-21T01:03:05Z
dc.date.available 2022-05-21T01:03:05Z
dc.date.issued 2022-03-24
dc.identifier.citation DBDS Genetic Consortium 2022 , ' A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome ' , Nature Communications , vol. 13 , no. 1 , 1598 . https://doi.org/10.1038/s41467-022-29133-7
dc.identifier.issn 2041-1723
dc.identifier.other 48779040
dc.identifier.other a080841b-7652-4030-ac5f-0cd631ff0af3
dc.identifier.other 35332129
dc.identifier.other PubMedCentral: PMC8948232
dc.identifier.other 85127057473
dc.identifier.uri https://hdl.handle.net/20.500.11815/3193
dc.description Funding Information: We thank the participants in this study for their valuable contribution to the research. We thank all investigators and colleagues who contributed to data collection, phenotypic characterization of clinical samples, genotyping, and analysis of the whole-genome association data. This research was conducted using the UK Biobank Resource (application number 24898). We acknowledge the participants and investigators of the FinnGen study. The financial support from the European Commission to the painFACT project, TET, (H2020-2020-848099) is acknowledged. Publisher Copyright: © 2022, The Author(s).
dc.description.abstract Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10-24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.
dc.format.extent 1715148
dc.format.extent
dc.language.iso en
dc.relation.ispartofseries Nature Communications; 13(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Gigtarlæknisfræði
dc.subject Anthropometry
dc.subject Carpal Tunnel Syndrome/genetics
dc.subject Genetic Loci
dc.subject Genome-Wide Association Study
dc.subject Humans
dc.subject Phenotype
dc.subject Multidisciplinary
dc.subject General Physics and Astronomy
dc.subject General Chemistry
dc.subject General Biochemistry,Genetics and Molecular Biology
dc.title A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.doi 10.1038/s41467-022-29133-7
dc.relation.url http://www.scopus.com/inward/record.url?scp=85127057473&partnerID=8YFLogxK
dc.contributor.department Faculty of Medicine


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