A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor

Harry D Green, Alistair Jones, Jonathan P Evans, Andrew R Wood, Robin N Beaumont, Jessica Tyrrell, Timothy M Frayling, Christopher Smith and Michael N Weedon

PLOS Genetics, 2021, vol. 17, issue 6, 1-13

Abstract: Frozen shoulder is a painful condition that often requires surgery and affects up to 5% of individuals aged 40–60 years. Little is known about the causes of the condition, but diabetes is a strong risk factor. To begin to understand the biological mechanisms involved, we aimed to identify genetic variants associated with frozen shoulder and to use Mendelian randomization to test the causal role of diabetes. We performed a genome-wide association study (GWAS) of frozen shoulder in the UK Biobank using data from 10,104 cases identified from inpatient, surgical and primary care codes. We used data from FinnGen for replication and meta-analysis. We used one-sample and two-sample Mendelian randomization approaches to test for a causal association of diabetes with frozen shoulder. We identified five genome-wide significant loci. The most significant locus (lead SNP rs28971325; OR = 1.20, [95% CI: 1.16–1.24], p = 5x10-29) contained WNT7B. This variant was also associated with Dupuytren’s disease (OR = 2.31 [2.24, 2.39], p

Date: 2021
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pgen00:1009577

DOI: 10.1371/journal.pgen.1009577

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