A genetic study of shoulder injury did something rare on this site: it biopsied actual torn tendons and confirmed two of its own genes changed activity right at the site of the tear.
Shoulder impingement and rotator cuff disease together describe one of the most common causes of shoulder pain, ranging from soft-tissue impingement to a full tear of the rotator cuff tendons. This page holds 7 variants from a 2021 genome-wide study that combined genetic mapping with direct tissue evidence.
The study first ran a genome-wide association study for shoulder impingement using 3,864 UK Biobank cases, finding 4 new loci. It then combined this data in a meta-analysis with a prior genetic study of rotator cuff tears specifically, identifying 7 more loci — including this page's rs775583810 (ZNF804A), rs145648292 (C5orf63), rs562775223 (ASTN2), rs144371252 (FRMPD4), rs761804508 (ACOT9), rs144414988 (LSP1P3), and rs555376144 (MIS18BP1).
Unusually for a genetic association study, the researchers went to the injury site directly: they took rotator cuff tendon biopsies from 24 patients with full-thickness tears and, as controls, from 9 patients recovering from a different shoulder injury (a fracture repair, not a tendon tear). RNA sequencing on these biopsies showed that STK24 expression rose and SAT1/UBE2D3 expression fell following a rotator cuff tear — direct laboratory confirmation that at least some of the genetically associated loci are doing something biologically real at the exact site of injury, not just showing up in a statistical association.
Shoulder impingement and rotator cuff tears are diagnosed by physical exam and imaging (ultrasound or MRI) — not by genotype. None of the 7 variants on this page are used by any guideline to diagnose shoulder impingement, rotator cuff disease, or select treatment.
The loci described above come from a genetic study of thousands of UK Biobank participants, with two of its genes further confirmed by direct tissue biopsy and RNA sequencing at the site of an actual tear. This remains population-level genetic evidence about disease mechanism, not a diagnostic test — the paper itself frames its findings as a starting point for future individualized risk assessment, not a tool available today.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Shoulder Impingement and Rotator Cuff Disease comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 7 of 7 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Shoulder Impingement and Rotator Cuff Disease. MyGeneLog™. https://www.mygenelog.com/conditions/shoulder-impingement-rotator-cuff-disease
One of the most common causes of shoulder pain, ranging from soft-tissue impingement to a full tear of the rotator cuff tendons.
A 2021 study identified 11 risk loci through a UK Biobank GWAS and meta-analysis, then directly confirmed two of the associated genes (STK24, SAT1/UBE2D3) changed activity in tendon biopsies taken from actual rotator cuff tears -- unusually direct tissue-level evidence.
No. Shoulder impingement and rotator cuff tears are diagnosed by physical exam and imaging. These are population-level genetic findings, and the source study itself frames individualized risk assessment as a future goal, not something available today.
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