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Rs16890979

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Orientationplus
is asnp
is mentioned by
dbSNPrs16890979
PheGenIrs16890979
nextbiors16890979
hapmaprs16890979
1000 genomesrs16890979
hgdprs16890979
ensemblrs16890979
gopubmedrs16890979
geneviewrs16890979
scholarrs16890979
googlers16890979
pharmgkbrs16890979
gwascentralrs16890979
openSNPrs16890979
23andMers16890979
23andMe allrs16890979
SNP Nexus

SNPshotrs16890979
SNPdbers16890979
MSV3drs16890979
GeneSLC2A9
Chromosome4
Orientationplus
GMAF0.2227
Position9920543
ReferenceGRCh38 38.1/141
Max Magnitude2
Geno Mag Summary
(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
? (C;C) (C;T) (T;T) 28
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). [PMID 18759275OA-icon.png] 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 18834626OA-icon.png]

[PMID 24270849OA-icon.png] 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.

OMIM612076
DescHYPOURICEMIA, RENAL, 2; RHUC2
Variant
Relatedalso

[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 22189840OA-icon.png] Genotype-based changes in serum uric acid affect blood pressure


[PMID 22229870OA-icon.png] Genome-Wide Association of Serum Uric Acid Concentration: Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia


[PMID 17997608OA-icon.png] The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19503597OA-icon.png] Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.


[PMID 20470424OA-icon.png] A three-stage approach for genome-wide association studies with family data for quantitative traits.


GET Evidence
SLC2A9-V282I
aa_change Val282Ile
aa_change_short V282I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.287135
summary