|(C;C)||3.4x risk of gout|
|(C;T)||1.7x risk of gout|
|(T;T)||2||lower systolic blood pressure, serum uric acid and gout risk|
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). [PMID 18759275] 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. [PMID 18834626]
[PMID 24270849] 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.[PMID 19877038] Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Māori, Pacific Island, and Caucasian case-control sample sets
[PMID 22189840] Genotype-based changes in serum uric acid affect blood pressure
[PMID 22229870] Genome-Wide Association of Serum Uric Acid Concentration: Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia
[PMID 17997608] The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19503597] Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
[PMID 20470424] A three-stage approach for genome-wide association studies with family data for quantitative traits.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 25128519] Tubular urate transporter gene polymorphisms differentiate patients with gout who have normal and decreased urinary uric acid excretion
[PMID 26552468] Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population
|Disease||Familial renal hypouricemia|
|CLNDBN||Familial renal hypouricemia|