rs12421158 - PHRF1
Magnitude 4.5 · 1 study on file
Reported associations
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Immunochip identifies novel, and replicates known, genetic risk loci for rheumatoid arthritis in black South Africans. - Molecular medicine (Cambridge, Mass.) (2015) · Govind N, Choudhury A, Hodkinson B, Ickinger C, Frost J, Lee A, Gregersen PK, Reynolds RJ, Bridges SL, Hazelhurst S, Ramsay M, Tikly M · PubMed 25014791
The aim of this study was to identify genetic variants associated with rheumatoid arthritis (RA) risk in black South Africans. Black South African RA patients (n = 263) were compared with healthy controls (n = 374). Genotyping was performed using the Immunochip, and four-digit high-resolution human leukocyte antigen (HLA) typing was performed by DNA sequencing of exon 2. Standard quality control measures were implemented on the data. The strongest associations were in the intergenic region between the HLA-DRB1 and HLA-DQA1 loci. After conditioning on HLA-DRB1 alleles, the effect in the rest of the extended major histocompatibility (MHC) diminished. Non-HLA single nucleotide polymorphisms (SNPs) in the intergenic regions LOC389203|RBPJ, LOC100131131|IL1R1, KIAA1919|REV3L, LOC643749|TRAF3IP2
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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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Rheumatoid arthritis baseline risk assessment and screening Moderate
This variant increases rheumatoid arthritis risk approximately 1.72-fold through altered immune-related gene expression.
Discuss baseline RA screening and recommended monitoring frequency with physician.