A polymorphism of the osteopontin gene is related to urinary calcium stones
A polymorphism of the osteopontin gene is related to urinary calcium stones
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DOI：
10.1097/01.ju.0000173012.28341.c3
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发表时间：
2005-10-01
影响因子：
6.6
通讯作者：
Kohri, K
中科院分区：
文献类型：
--
作者：
Gao, B;Yasui, T;Kohri, K
目的：我们调查了骨桥蛋白（OPN）基因的多态性，以探讨它们是否可以作为一个基因标志物，用于确定尿钙结石的风险。材料和方法：共76例尿钙结石患者和124名对照进行了研究。在PRISM（R）7700序列检测系统中，使用TaqMan（R）5'核酸酶测定法对OPN基因中位于位置9，402（Arg/His）和9，171（Asn/Ser）的非同义氨基酸的两个单核苷酸多态性进行基因分型。结果：OPN基因第9，402位多态性在尿钙结石患者和正常对照组间差异有统计学意义（P < 0. 05）。尿钙结石患者第9，402位A/G基因型频率明显高于对照组（p < 0.01）。第9，402位A等位基因的频率在患者中显著高于对照组（4.6%vs0.4%，p < 0.01）。OPN基因第9，402位的多态性在基因型分布和与尿钙结石相关的临床特征之间没有统计学差异。OPN基因第9，171位的多态性在患者组和对照组之间没有差异。OPN基因第9，402位多态性与尿钙结石高度相关，是评价尿钙结石病遗传风险的候选遗传标记，而第9，171的OPN基因与尿钙结石病无关。
Purpose: We investigated polymorphisms of the osteopontin (OPN) gene to explore whether they could be used as a gene marker for determining the risk of urinary calcium stones.Materials and Methods: A total of 76 patients with urinary calcium stones and 124 controls were studied. Two single nucleotide polymorphisms with nonsynonymous amino acid located at positions 9,402 (Arg/His) and 9,171 (Asn/Ser) in the OPN gene were genotyped using the TaqMan (R) 5' nuclease assay in a PRISM (R) 7700 sequence detection system. Results were analyzed with Fisher's exact test.Results: Results revealed a significant different polymorphism at OPN gene position 9,402 between patients with urinary calcium stones and control subjects. The frequency of the A/G genotype at position 9,402 in patients with urinary calcium stones was significantly higher than that in control subjects (p < 0.01). The frequency of the A allele at position 9,402 was significantly higher in the patient than in the control group (4.6% vs 0.4%, p < 0.01). There was no statistical difference in this polymorphism at OPN gene position 9,402 between genotype distribution and clinical characteristics associated with urinary calcium stones. There was no difference in the polymorphism at OPN gene position 9,171 between the patient and control groups.Conclusions: Polymorphism at position 9,402 of the OPN gene is highly associated with urinary calcium stones and it is a candidate genetic marker for evaluating the genetic risk of urinary calcium stone disease, whereas polymorphism at position 9,171 of the OPN gene is not associated with urinary calcium stone disease.