Department of Laboratory Medicine, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, P. R. China.
Scand J Rheumatol. 2009;38(4):276-81. doi: 10.1080/03009740802572483.
The human urate transporter 1 (URAT1, encoded by SLC22A12) was recently identified as the major absorptive urate transporter protein in the kidney responsible for regulating blood urate levels. The present study was designed to investigate the rs893006 polymorphism (GG, GT, and TT) in SLC22A12 in a total of 292 Chinese male subjects. Differences of clinical characteristics among the genotype groups were analysed.
A total of 124 consecutive patients with diagnosis of primary gout and 168 healthy male volunteers were enrolled in this study. Demographic and clinical data were obtained from the patients and controls. DNA was purified from peripheral blood and the rs893006 polymorphism was determined with sequencing analysis. In addition, DNA samples were detected by high-resolution melting (HRM) analysis. Melting curves were analysed as fluorescence difference plots. The shift and curve shapes of melting profiles were used to distinguish the different genotypes.
GG, GT, and TT genotypes were unambiguously distinguished with HRM technology. Genotyping based on HRM analysis was fully concordant with the sequencing. Serum uric acid levels in the TT genotype subjects were significantly lower than those in the GG and GT genotypes. However, no differences among the groups were found in body mass index (BMI), blood pressure, creatinine, total cholesterol, and triglycerides. The TT genotype was observed more frequently among the low uric acid group than the high uric acid group.
HRM analysis is a simple, rapid and accurate one-tube assay for genotyping the SLCSSA12 gene. The rs893006 polymorphism in SLC22CA12 was confirmed to be a genetic risk for hyperuricaemia among the Chinese male population.
人尿酸盐转运蛋白 1（URAT1，由 SLC22A12 编码）最近被确定为肾脏中负责调节血液尿酸水平的主要吸收性尿酸转运蛋白。本研究旨在调查 SLC22A12 中的 rs893006 多态性（GG、GT 和 TT）在总共 292 名中国男性中的情况。分析基因型组之间的临床特征差异。
本研究共纳入 124 例原发性痛风患者和 168 名健康男性志愿者。从患者和对照中获得人口统计学和临床数据。从外周血中提取 DNA，通过测序分析确定 rs893006 多态性。此外，还通过高分辨率熔解（HRM）分析检测 DNA 样本。将熔解曲线分析为荧光差异图。通过熔化曲线的位移和形状来区分不同的基因型。
HRM 技术可以明确区分 GG、GT 和 TT 基因型。基于 HRM 分析的基因分型与测序完全一致。TT 基因型受试者的血清尿酸水平明显低于 GG 和 GT 基因型受试者。然而，各组之间的体重指数（BMI）、血压、肌酐、总胆固醇和甘油三酯均无差异。在低尿酸组中，TT 基因型比高尿酸组更为常见。
HRM 分析是一种简单、快速和准确的单管测定法，用于 SLCSSA12 基因的基因分型。SLC22CA12 中的 rs893006 多态性被证实是中国男性人群高尿酸血症的遗传风险因素。
