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From SNPedia
Magnitude 3.5
Repute Bad
Summary causes gout
Criteria Gs1000/criteria

At least 10% of all gout cases in whites are attributable to this causal variant. [PMID 19506252]

rs2231142, also known as Q141K and C421A, is a SNP in the ABCG2 gene, indicating a missense variant.

A is the risk allele. A large study totaling 7,699 participants in the Framingham cohort and 4,148 participants in the Rotterdam cohort was conducted, with genome-wide significant SNPs then replicated in 11,000+ Caucasian and ~4,000 African-American individuals who took part in the study of Atherosclerosis Risk in Communities (ARIC). This study calculated an odds ratio of 1.74 for rs2231142 (CI: 1.51-1.99, p = 3.3x10e-15). A genetic score comprised of this SNP plus 2 others may stratify risk for gout. [PMID 18834626OA-icon.png]