Rs7442295

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Orientationplus
Geno Mag Summary
(A;A) 2 ~4x higher risk for hyperuracemia
(A;G) ~2x higher risk for hyperuracemia
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome4
Position9964756
GeneSLC2A9
is asnp
is mentioned by
dbSNPrs7442295
PheGenIrs7442295
nextbiors7442295
hapmaprs7442295
1000 genomesrs7442295
hgdprs7442295
ensemblrs7442295
gopubmedrs7442295
geneviewrs7442295
scholarrs7442295
googlers7442295
pharmgkbrs7442295
gwascentralrs7442295
openSNPrs7442295
23andMers7442295
23andMe allrs7442295
SNP Nexus

SNPshotrs7442295
SNPdbers7442295
MSV3drs7442295
GMAF0.2172
Max Magnitude2
? (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 18179892OA-icon.png]

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 18179892OA-icon.png]

GWAS
SNP rs7442295
PubMedID [PMID 18179892OA-icon.png]
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
OMIM612076
DescHYPOURICEMIA, RENAL, 2; RHUC2
Variant
Relatedalso
OMIM606142
DescSOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
Variant
Relatedalso



OMIM606142
Desc
Variant0001
Relatedalso
[PMID 17997608OA-icon.png] The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.


[PMID 18398472OA-icon.png] Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study.


[PMID 18487473OA-icon.png] Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI.


[PMID 18606621OA-icon.png] SLC2A9--a fructose transporter identified as a novel uric acid transporter.


[PMID 19679263OA-icon.png] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.


[PMID 20053405OA-icon.png] Sex and age interaction with genetic association of atherogenic uric acid concentrations.


GET Evidence
rs7442295
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.25
summary



[PMID 23422251OA-icon.png] Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease