Rs2231142

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

"Our data indicate that at least 10% of all gout cases in whites are attributable to this causal 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.

Among non-small cell lung cancer patients treated with gefitinib, there's a 4-5x higher risk of diarrhea for rs2231142 heterozygotes (and presumably minor allele homozygotes), based on a study of 124 patients treated with 250mg oral gefitinib once daily.

rs2231142 also appears to influence the effectiveness of rosuvastatin. A study of 305 Chinese patients concluded that rs2231142(A;A) individuals showed a 7% greater reduction in LDL-C levels, equivalent to a doubling of the dose.

See also: 23andMe blog gout