rs16890979
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 9920543 |
| Gene | SLC2A9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16890979 |
| dbSNP (classic) | rs16890979 |
| ClinGen | rs16890979 |
| ebi | rs16890979 |
| HLI | rs16890979 |
| Exac | rs16890979 |
| Gnomad | rs16890979 |
| Varsome | rs16890979 |
| LitVar | rs16890979 |
| Map | rs16890979 |
| PheGenI | rs16890979 |
| Biobank | rs16890979 |
| 1000 genomes | rs16890979 |
| hgdp | rs16890979 |
| ensembl | rs16890979 |
| geneview | rs16890979 |
| scholar | rs16890979 |
| rs16890979 | |
| pharmgkb | rs16890979 |
| gwascentral | rs16890979 |
| openSNP | rs16890979 |
| 23andMe | rs16890979 |
| SNPshot | rs16890979 |
| SNPdbe | rs16890979 |
| MSV3d | rs16890979 |
| GWAS Ctlg | rs16890979 |
| GMAF | 0.2227 |
| Max Magnitude | 2 |
| ? | (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]
[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.
[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
| ClinVar | |
|---|---|
| Risk | Rs16890979(T;T) |
| Alt | Rs16890979(T;T) |
| Reference | Rs16890979(C;C) |
| Significance | Non-pathogenic |
| Disease | Familial renal hypouricemia |
| Variation | info |
| Gene | SLC2A9 |
| CLNDBN | Familial renal hypouricemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.9922167C>T |
| CLNSRC | |
| CLNACC | RCV000262922.1, |
