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

Astros Th. Skuladottir (), Gyda Bjornsdottir, Egil Ferkingstad, Gudmundur Einarsson, Lilja Stefansdottir, Muhammad Sulaman Nawaz, Asmundur Oddsson, Thorunn A. Olafsdottir, Saedis Saevarsdottir, G. Bragi Walters, Sigurdur H. Magnusson, Anna Bjornsdottir, Olafur A. Sveinsson, Arnor Vikingsson, Thomas Folkmann Hansen, Rikke Louise Jacobsen, Christian Erikstrup, Michael Schwinn, Søren Brunak, Karina Banasik, Sisse Rye Ostrowski, Anders Troelsen, Cecilie Henkel, Ole Birger Pedersen (), Ingileif Jonsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Thorgeir E. Thorgeirsson, Hreinn Stefansson and Kari Stefansson ()
Additional contact information
Astros Th. Skuladottir: deCODE genetics/Amgen Inc.
Gyda Bjornsdottir: deCODE genetics/Amgen Inc.
Egil Ferkingstad: deCODE genetics/Amgen Inc.
Gudmundur Einarsson: deCODE genetics/Amgen Inc.
Lilja Stefansdottir: deCODE genetics/Amgen Inc.
Muhammad Sulaman Nawaz: deCODE genetics/Amgen Inc.
Asmundur Oddsson: deCODE genetics/Amgen Inc.
Thorunn A. Olafsdottir: deCODE genetics/Amgen Inc.
Saedis Saevarsdottir: deCODE genetics/Amgen Inc.
G. Bragi Walters: deCODE genetics/Amgen Inc.
Sigurdur H. Magnusson: deCODE genetics/Amgen Inc.
Anna Bjornsdottir: Heilsuklasinn Clinic
Olafur A. Sveinsson: University of Iceland
Arnor Vikingsson: Landspitali—the National University Hospital of Iceland
Thomas Folkmann Hansen: Copenhagen University Hospital, Rigshospitalet—Glostrup
Rikke Louise Jacobsen: Copenhagen University Hospital—Rigshospitalet
Christian Erikstrup: Aarhus University Hospital
Michael Schwinn: Copenhagen University Hospital—Rigshospitalet
Søren Brunak: University of Copenhagen
Karina Banasik: University of Copenhagen
Sisse Rye Ostrowski: Copenhagen University Hospital—Rigshospitalet
Anders Troelsen: Copenhagen University Hospital
Cecilie Henkel: Copenhagen University Hospital
Ole Birger Pedersen: Zealand University Hospital—Køge
Ingileif Jonsdottir: deCODE genetics/Amgen Inc.
Daniel F. Gudbjartsson: deCODE genetics/Amgen Inc.
Patrick Sulem: deCODE genetics/Amgen Inc.
Thorgeir E. Thorgeirsson: deCODE genetics/Amgen Inc.
Hreinn Stefansson: deCODE genetics/Amgen Inc.
Kari Stefansson: deCODE genetics/Amgen Inc.

Nature Communications, 2022, vol. 13, issue 1, 1-9

Abstract: 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.

Date: 2022
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DOI: 10.1038/s41467-022-29133-7

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