rs1059703
This is a variant in the IRAK1 gene that changes a serine to an leucine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Association of an activity‐enhancing variant of IRAK1 and an MECP2–IRAK1 haplotype with increased susceptibility to rheumatoid arthritisAssociationN=2,322Tae‐Un Han et al.(2013)· Arthritis & Rheumatism
This case-control study of 2,322 Korean participants (1,316 RA cases, 1,006 controls) identified multiple SNPs in an IRAK1-MECP2 locus on Xq28 associated with rheumatoid arthritis susceptibility. The most significant association was with rs1734792 (P=0.00089, OR=1.33), while two nonsynonymous IRAK1 SNPs rs1059702 (P=0.0034, OR=1.31) and rs1059703 (P=0.0042, OR=1.31) showed functional effects with a major haplotype conferring 1.7-fold increased RA risk and enhanced IRAK1-mediated NF-κB activity.
▶IRAK1 rs3027898 C/A polymorphism is associated with risk of rheumatoid arthritisAssociationN=692Hui Zhang et al.(2013)· Rheumatology International
This case-control study of 214 rheumatoid arthritis patients and 478 controls in a Chinese population found that the IRAK1 rs3027898 AA genotype was associated with significantly increased risk of RA (OR=1.91, 95% CI=1.12-3.26, p=0.017), with stronger effects in females, younger patients, and CRP-negative patients. The hsa-mir-499 rs3746444 T/C polymorphism showed no significant association with RA risk.
About IRAK1
This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all IRAK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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