|(A;A)||2||~4x higher risk for hyperuracemia|
|(A;G)||~2x higher risk for hyperuracemia|
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]
|95% CI||0.02-0.03) mMol/L highe|
|Title||SLC2A9 influences uric acid concentrations with pronounced sex-specific effects|
|Odds Ratio||0.35 [NR] mg/dl decrease in uric acid|
[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.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23422251] Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease