rs1059701

This variant is located in the IRAK1 gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.02

p 3.0e-9

N 408,112

Large GWAS

European

▶

ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

not specified

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

Association of an activity‐enhancing variant of IRAK1 and an MECP2–IRAK1 haplotype with increased susceptibility to rheumatoid arthritis

AssociationN=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.

Traits studied:RA susceptibilityRheumatoid arthritis

PubMed DOI Metascience Observatory

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]