Carpal Tunnel Syndrome, as genome-wide studies have reported it: 13 positions from 3 studies, the largest recording 48,843 cases and 1,190,837 controls (European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
This is the record of what genome-wide association studies have found for Carpal Tunnel Syndrome (the GWAS Catalog's "Carpal tunnel syndrome"): 13 positions reported by 3 studies. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
Skuladottir AT et al. 2022, in Nature Communications — A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome. Studied in 48,843 cases and 1,190,837 controls (European ancestry). From it, 9 positions on this page: rs66525731 (near HSP90AB2P), rs9722048 (ADAMTSL2), rs12762780 (ADAMTS14), rs1866745 (SMAD6), rs72725608 (TTLL5), rs12539945 (near CRPPA), rs73978133 (near LNPK), rs7119588 (near CCS), and 1 more. PMID:35332129.
Wiberg A et al. 2019, in Nature Communications — A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. Studied in 12,312 cases and 389,344 controls (European ancestry). From it, 3 positions on this page: rs1863190 (DIRC3), rs6843953 (near HSP90AB2P), rs847139 (KIAA1715). PMID:30833571.
Sakaue S et al. 2021, in Nature Genetics — A cross-population atlas of genetic associations for 220 human phenotypes. The catalogue records its sample as 19,047 cases and 639,880 controls (European ancestry, East Asian ancestry). From it, one position on this page: rs13221870 (near CRPPA). PMID:34594039.
The 13 positions lie in or near 11 genes: HSP90AB2P, ADAMTSL2, ADAMTS14, SMAD6, TTLL5, CRPPA, LNPK, CCS, MKNK2, DIRC3, KIAA1715. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Of all these, rs66525731 near HSP90AB2P carries the strongest signal: P = 9 × 10-20, with an odds ratio of 1.10, in Skuladottir AT et al. 2022.
Read this page as a list of findings about Carpal Tunnel Syndrome, not as an account of it. Each finding is a position that a genome-wide study linked to the condition across a population; the page adds no description, no prevalence and no advice, because the records hold none. The variant pages linked above give each study's record for its position, and ClinVar's where one exists.
A genotype does not diagnose Carpal Tunnel Syndrome; a clinician does. No guideline uses the 13 variants on this page to predict it, screen for it or confirm it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Carpal Tunnel Syndrome comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Carpal Tunnel Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/carpal-tunnel-syndrome
In the GWAS Catalog, Carpal Tunnel Syndrome is filed as "Carpal tunnel syndrome". Rather than define it, this page lists the genome-wide findings: 13 positions from 3 studies, each with its study's sample and citation.
Genome-wide studies have reported 13 associated positions; the largest study behind this page recorded 48,843 cases and 1,190,837 controls (European ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 11 genes: HSP90AB2P, ADAMTSL2, ADAMTS14, SMAD6, TTLL5, CRPPA, LNPK, CCS, MKNK2, DIRC3, KIAA1715. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Carpal Tunnel Syndrome is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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