Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Clin Chim Acta. 2010 May 2;411(9-10):739-43. doi: 10.1016/j.cca.2010.02.007. Epub 2010 Feb 6.
Osteopontin (OPN) is an important modulator of urolithiasis formation. Three functional polymorphisms (-66T/G, -156delG/G, and -443T/G) on the promoter region of the OPN gene have been found to affect the gene expression and transcriptional activity. This study investigated the association of those three functional polymorphisms with the risk of calcium urolithiasis.
A total of 249 cases diagnosed with calcium urolithiasis and 247 age- and sex-matched healthy controls were recruited from Kaohsiung Medical University Hospital between June, 2003 and February, 2007. All subjects completed a detailed questionnaire survey, and provided blood and urine samples for biochemical evaluations. Three single nucleotide polymorphisms were determined by using TaqMan 5' allelic discrimination assay.
In-156delG/G polymorphism, subjects who carried delG allele had a significantly higher risk of developing calcium urolithiasis than those with G allele (odds ratio=1.39; 95% confidence interval=1.02-1.90; P=0.037). In stone cases, subjects with delG/G and delG/delG genotypes also had significantly higher urinary ratio of calcium to OPN than those with G/G genotype (11.8+/-15.9 vs 7.08+/-5.26, P=0.021).
The -156 delG/G polymorphism of OPN gene could serve as a candidate genetic marker used to evaluate the risk of calcium urolithiasis.
骨桥蛋白（OPN）是尿石形成的重要调节剂。在 OPN 基因启动子区域发现了三个功能多态性（-66T/G、-156delG/G 和-443T/G），它们影响基因表达和转录活性。本研究调查了这三个功能多态性与钙结石形成风险的关系。
2003 年 6 月至 2007 年 2 月，高雄医学大学附属医院共招募了 249 例钙结石患者和 247 例年龄和性别匹配的健康对照者。所有受试者均完成了详细的问卷调查，并提供了血液和尿液样本进行生化评估。采用 TaqMan 5'等位基因鉴别分析测定三个单核苷酸多态性。
在-156delG/G 多态性中，携带 delG 等位基因的受试者发生钙结石的风险明显高于携带 G 等位基因的受试者（比值比=1.39；95%置信区间=1.02-1.90；P=0.037）。在结石病例中，delG/G 和 delG/delG 基因型的受试者尿液钙与 OPN 的比值也明显高于 G/G 基因型的受试者（11.8+/-15.9 比 7.08+/-5.26，P=0.021）。
OPN 基因的-156delG/G 多态性可作为评估钙结石形成风险的候选遗传标志物。
