Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects
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DOI：
10.1111/j.1440-1797.2008.01029.x
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发表时间：
2008-12-01
期刊：
影响因子：
2.5
通讯作者：
Cheong, Hae Il
中科院分区：
文献类型：
--
作者：
Lee, Joo Hoon;Choi, Hyun Jin;Cheong, Hae Il
编码尿酸转运体URAT1的SLC22A12基因突变与肾性低尿酸血症有关。为探讨SLC22A12两种常见突变(W258X和R90H)在韩国健康人群中的分布及血尿酸(SuA)水平，本研究从2003年健康体检人群中选取909名朝鲜族成年人(男：女，1：1.23；平均年龄48.4+/-11.0岁)作为研究对象。无高血压、糖尿病、肾脏疾病或肝脏疾病。用TaqMan法对W258X和R90H进行基因分型，高尿酸血症(Sua水平416mU/L)和低尿酸血症(SuA水平178mU/L)的患病率分别为4.6%和3.3%。在高尿酸血症组中男性明显占优势，并且男性比女性表现出更高的SuA。血尿酸与血肌酐、血压呈正相关。在低尿酸血症组中，W258X和R90H的等位基因频率分别为11.7%和6.7%，其中一个或两个突变等位基因的比例为33.3%。SLC22A12基因的W258X和/或R90H突变是导致低尿酸血症的主要因素之一，三分之一的低尿酸血症患者具有一个或两个突变的等位基因。
Mutations in the SLC22A12 gene, which encodes a uric acid transporter, URAT1, are associated with renal hypouricaemia. This study was designed to measure serum uric acid (Sua) levels and allele frequencies of two common mutations in SLC22A12, W258X and R90H, in healthy Korean subjects.A total of 909 unrelated Korean adults (male : female, 1:1.23; mean age, 48.4 +/- 11.0 years) were recruited among those who had taken a routine health check-up in a health centre in 2003. None of them had hypertension, diabetes mellitus, kidney diseases or liver diseases. Genotyping for W258X and R90H was performed using the TaqMan method.The prevalences of hyperuricaemia (Sua levels, > 416 mu mol/L) and hypouricaemia (Sua levels, < 178 mu mol/L) were 4.6% and 3.3%, respectively. A marked male preponderance in the hyperuricaemic group was noted, and the men revealed higher Sua than the women. The Sua showed a positive correlation with serum creatinine level and blood pressure. In the hypouricaemic group, the allele frequencies of W258X and R90H were 11.7% and 6.7%, respectively, and the proportion of subjects with one or both of the mutant alleles was 33.3%. Hyperuricaemic subjects never had either mutation.The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles.