Rs16890979

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs16890979
PheGenI	rs16890979
nextbio	rs16890979
hapmap	rs16890979
1000 genomes	rs16890979
hgdp	rs16890979
ensembl	rs16890979
gopubmed	rs16890979
geneview	rs16890979
scholar	rs16890979
google	rs16890979
pharmgkb	rs16890979
gwascentral	rs16890979
openSNP	rs16890979
23andMe	rs16890979
23andMe all	rs16890979
SNP Nexus
SNPshot	rs16890979
SNPdbe	rs16890979
MSV3d	rs16890979

Gene

SLC2A9

Chromosome

4

Orientation

plus

GMAF

0.223

Position

9922167

Reference

GRCh37 37.1/131

Max Magnitude

2

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 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]

OMIM	612076
Desc	HYPOURICEMIA, RENAL, 2; RHUC2
Variant
Related	also

[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.

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