Rs16890979

rs16890979 has been found to be associated with gout in several independent studies. It may be a variation in the SLC2A9 gene, which is more commonly known as GLUT9.

In a study of Old Order Amish, rs16890979 - which is also known as the missense mutation Val253Ile - was found as the most significantly associated SNP during a follow-up study based on a genome wide association study. Each copy of the minor allele, rs16890979(T), was associated with a decrease of 0.47 mg/dl in the uric acid level (CI: 0.31-0.63, p = 1.43 x 10e-11). See also: 23andMe blog gout

Independently, 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 0.59 per T allele (CI: 0.52-0.68, p=7.0x10e-14). A genetic score comprised of this SNP plus 2 others may stratify risk for gout.

rs16890979 was found to be associated with gout based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.