GSE108023
Genome-wide association analysis identifies 13 novel susceptibility loci for Carpal Tunnel Syndrome
Carpal tunnel syndrome (CTS) is a common and disabling condition of the hand caused by entrapment of the median nerve at the level of the wrist. It is the commonest entrapment neuropathy, with estimates of prevalence ranging between 5-10%1–3. We undertook the first GWAS to date of an entrapment neuropathy, using 12,106 CTS cases identified in UK Biobank and 387,347 controls. We discovered 13 novel susceptibility loci for CTS with p=5x10-8. We identified likely causal genes in the pathogenesis of CTS, including ADAMTS17, ADAMTS10 and EFEMP1, and demonstrated expression of these genes in surgically resected tenosynovium from CTS patients. We suggest that variants within genes implicated in growth and extracellular matrix architecture contribute to the genetic predisposition to CTS. Overall design: RNA-seq Illumina HiSeq4000