rs115284761 - PSTPIP1
Magnitude 2.2 · 1 study on file
Reported associations
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Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis - Unknown journal (n.d.) · Unknown authors · PubMed 36333501
ABSTRACT: Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-mapping resolution and performances of polygenic risk scores (PRS). Here, we present a large-scale genome-wide association study (GWAS) of RA, which includes 276,020 samples from five ancestral groups. We conducted a multi-ancestry meta-analysis and identified 124 loci (P < 5 × 10−8), of which 34 are novel. Candidate genes at the novel loci suggest essential roles of the immune system (for example, TNIP2 and TNFRSF11A) and joint tissues (for example, WISP1) in RA etiology. Multi-ancestry fine-mapping identified putatively causal variants with biological insights (for example, LEF1). Moreover, PRS
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Genetic predisposition to rheumatoid arthritis High
Strong genetic association with RA through PSTPIP1 variant warrants clinical evaluation and preventive management counseling.
Discuss genetic RA risk with healthcare provider; review family history, establish baseline clinical assessment, and explore evidence-based preventive approaches.
Screening
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Rheumatoid arthritis screening and early detection High
PSTPIP1 rs115284761 C allele carriers have significantly elevated RA risk from GWAS studies in over 90,000 individuals (p<1e-7, effect 0.88-0.91).
Discuss baseline RA serology testing (rheumatoid factor and/or anti-CCP antibodies) with healthcare provider; annual clinical assessment recommended.