Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population

BMC Medical Genetics

Research Article

Mariko Naito¹  Kenji Wakai¹  Nobuyuki Hamajima¹  Asahi Hishida¹  Rieko Okada¹  Yatami Asai² 

[1] Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan;Seirei Social Welfare Community, Hamamatsu, Japan;

关键词: Serum Uric Acid;    Hyperuricemia;    Serum Uric Acid Level;    General Japanese Population;    Renal Hypouricemia;   

DOI  :  10.1186/1471-2350-12-33

 received in 2010-11-11, accepted in 2011-03-02,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundAlthough SLC22A12 258X allele was found among those with hypouricemia, it was unknown that serum uric acid distribution among those with SLC22A12 258X allele. This study examined serum uric acid (SUA) distribution according to SLC22A12 W258X genotype in a general Japanese population.MethodsSubjects were 5,023 health checkup examinees (3,413 males and 1,610 females) aged 35 to 69 years with creatinine < 2.0 mg/dL, who were participants of a cohort study belonging to the Japan Multi-Institutional Collaborative Cohort Study (J-MICC Study). SLC22A12 W258X was genotyped with a polymerase chain reaction with confronting two-pair primers.ResultsThe genotype frequency was 4,793 for WW, 225 for WX, and 5 for XX, which was in Hardy-Weinberg equilibrium (p = 0.164) with X allele 0.023 (95% confidence interval [0.021-0.027]). Mean (range) SUA was 6.2 (2.1-11.4) mg/dL for WW, 3.9 (0.8-7.8) mg/dL for WX, and 0.8 (0.7-0.9) mg/dL for XX among males, and 4.5 (1.9-8.9) mg/dL, 3.3 (2.0-6.5) mg/dL, and 0.60 (0.5-0.7) mg/dL among females, respectively. Six individuals with SUA less than 1.0 mg/dL included two males with XX genotype, one male with WX genotype, and three females with XX genotype. Subjects with WX genotype were 14 (77.8%) of 18 males with a SUA of 1.0-2.9 mg/dL, and 28 (34.6%) of 81 females with the same range of SUA. The corresponding values were 131 (25.1%) of 522 males and 37 (3.5%) of 1,073 females for SUA 3.0-4.9 mg/dL, and 8 (0.4%) of 2,069 males and 5 (1.1%) of 429 females for SUA 5.0-6.9 mg/dL. The X allele effect for SUA less than 3 mg/dL was significantly (p < 0.001) higher in males (OR = 102.5, [33.9-309.8]) than in females (OR = 25.6 [14.4-45.3]).ConclusionsAlthough SLC22A12 W258X was a determining genetic factor on SUA, SUA of those with WX genotype distributed widely from 0.8 mg/dL to 7.8 mg/dL. It indicated that other genetic traits and/or lifestyle affected SUA of those with WX genotype, as well as those with WW genotype.

【 授权许可】

CC BY   
© Hamajima et al; licensee BioMed Central Ltd. 2011