rs7442295
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | ~4x higher risk for hyperuracemia |
| (A;G) | ~2x higher risk for hyperuracemia | |
| (G;G) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 9964756 |
| Gene | SLC2A9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7442295 |
| dbSNP (classic) | rs7442295 |
| ClinGen | rs7442295 |
| ebi | rs7442295 |
| HLI | rs7442295 |
| Exac | rs7442295 |
| Gnomad | rs7442295 |
| Varsome | rs7442295 |
| LitVar | rs7442295 |
| Map | rs7442295 |
| PheGenI | rs7442295 |
| Biobank | rs7442295 |
| 1000 genomes | rs7442295 |
| hgdp | rs7442295 |
| ensembl | rs7442295 |
| geneview | rs7442295 |
| scholar | rs7442295 |
| rs7442295 | |
| pharmgkb | rs7442295 |
| gwascentral | rs7442295 |
| openSNP | rs7442295 |
| 23andMe | rs7442295 |
| SNPshot | rs7442295 |
| SNPdbe | rs7442295 |
| MSV3d | rs7442295 |
| GWAS Ctlg | rs7442295 |
| GMAF | 0.2172 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs7442295 is a SNP in the SLC2A9 gene; this gene encodes a glucose transporter.
Based on an initial study of 1900+ hypertensive Caucasian Europeans, the more common allele rs7442295(A) allele was associated with higher serum urate and hyperuracemia (defined as urate >0.4 mMol/l), with a reported odds ratio of 1.89 (CI: 1.36-2.61, p=5 x 10-5). This was also seen in an associated meta-analysis conducted with a broadly representative population and using a surrogate SNP, rs6449213, which is in fairly tight linkage (r2=0.88) with rs7442295.[PMID 18179892
]
To put it another way, 79% of white Europeans carry one or two alleles leading to higher serum urate levels. Each copy leads to an average increase of 0.02mMol/l, and, an ~doubling of risk for hyperuracemia.[PMID 18179892]
| GWAS | |
|---|---|
| SNP | rs7442295 |
| PubMedID | [PMID 18179892]
|
| Condition | Serum urate |
| Gene | SLC2A9,WDR1 |
| Risk Allele | A |
| pValue | 2.00E-015 |
| OR | 0.02 |
| 95% CI | 0.02-0.03) mMol/L highe |
| GWAS snp | |
|---|---|
| PMID | [PMID 18327256] |
| Trait | Serum urate |
| Title | SLC2A9 influences uric acid concentrations with pronounced sex-specific effects |
| Risk Allele | C |
| P-val | 3.0000000000000001E-70 |
| Odds Ratio | 0.35 [NR] mg/dl decrease in uric acid |
| OMIM | 606142 |
| Desc | SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER |
| Variant | |
| Related | also |
[PMID 17997608] The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
[PMID 18398472] Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study.
[PMID 18487473] Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI.
[PMID 18606621] SLC2A9--a fructose transporter identified as a novel uric acid transporter.
[PMID 19679263] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.
[PMID 20053405] Sex and age interaction with genetic association of atherogenic uric acid concentrations.
[PMID 23422251] Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease
| ClinVar | |
|---|---|
| Risk | Rs7442295(G;G) |
| Alt | Rs7442295(G;G) |
| Reference | Rs7442295(A;A) |
| Significance | Other |
| Disease | Uric acid concentration |
| Variation | info |
| Gene | SLC2A9 |
| CLNDBN | Uric acid concentration, serum, quantitative trait locus 2 |
| Reversed | 0 |
| HGVS | NC_000004.11:g.9966380A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004856.2, |
