title: Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese.
abstract: Serum uric acid levels are maintained by urate synthesis and excretion. URAT1 (coded by SLC22CA12) was recently proposed to be the major absorptive urate transporter protein in the kidney regulating blood urate levels. Because genetic background is known to affect serum urate levels, we hypothesized that genetic variations in SLC22A12 may predispose humans to hyperuricemia and gout. We investigated rs893006 polymorphism (GG, GT and TT) in SLC22A12 in a total of 326 Japanese subjects. Differences in clinical characteristics among the genotype groups were tested by the analysis of variance (ANOVA). In male subjects, mean serum uric acid levels were significantly different among the three genotypes. Levels in the GG genotype subjects were the highest, followed by those with the GT and TT genotypes. However, no differences between the groups were seen in the distributions of creatinine, Fasting plasma glucose (FPG), HbA(1c), total cholesterol, triglyceride, HDL cholesterol levels or BMI. A single nucleotide polymorphism (SNP) in the urate transporter gene SLC22CA12 was found to be associated with elevated serum uric acid levels among Japanese subjects. This SNP may be an independent genetic marker for predicting hyperuricemia.
authors.affiliation: Laboratory of Biochemistry, Kyorin University Faculty of Health Sciences, 476 Miyashita-machi, Hachioji, Tokyo 192-8508, Japan. shimashi@kyorin-u.ac.jp
authors.forename: Yukio
authors.initials: Y
authors.lastname: Shima
authors.forename: Koji
authors.initials: K
authors.lastname: Teruya
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Ohta
mesh_terms: D044466:Asian People; D003404:Creatinine / Q000097:blood; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006073:Gout / Q000097:blood / Q000235:genetics; D006801:Humans; D033461:Hyperuricemia / Q000097:blood* / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D012737:Sex Factors; D014527:Uric Acid / Q000097:blood*
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid; D003404:Creatinine