Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Influence of NAFLD and bariatric surgery on hepatic and adipose tissue mitochondrial biogenesis and respiration

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Increased transmissibility of SARS-CoV-2 lineage B.1.1.7 by age and viral load

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Cohort Profile: COVIDMENT: COVID-19 cohorts on mental health across six nations

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Headache provocation by nitric oxide in men who have never experienced a headache

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Consequences for preoperative pain and function when postponing elective knee and hip arthroplasty

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Low adherence to the guideline for the acute treatment of migraine

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
Article number1598
JournalNature Communications
Volume13
Issue number1
Pages (from-to)1-9
Number of pages9
ISSN2041-1723
DOIs
Publication statusPublished - 24 Mar 2022

Bibliographical note

© 2022. The Author(s).

ID: 75905154