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The elucidation of urinary calculi formation mechanism by genome analysis

通过基因组分析阐明泌尿系结石形成机制

基本信息

批准号：
15390495
负责人：
KOHRI Kenjiro
金额：
$ 10.69万
依托单位：
Nagoya City University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2003
资助国家：
日本
起止时间：
2003 至 2005
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15390495/
关键词：
osteopontin SNPs urinary calcium stone ノックアウトマウス SNPs解析

项目摘要

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 5'nuclease assay in a PRISM 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.

目的：研究骨桥蛋白(OPN)基因的多态性，探讨其是否可以作为尿钙结石风险的基因标志物。材料和方法：对76例尿钙结石患者和124例正常对照进行研究。在PRISM 7700序列检测系统中，用TaqMan 5‘核酸酶分析系统对OPN基因中9,402(Arg/His)和9,171(Asn/Ser)两个非同义氨基酸的单核苷酸多态进行了基因分型。结果：尿钙结石患者OPN基因9,402位点与正常对照组比较，差异有统计学意义。尿钙结石患者9,402位A/G基因频率显著高于对照组(P&lt；0.01)。A等位基因第9,402位的频率显著高于对照组(4.6%vs0.4%，p&lt；0.01)。OPN基因第9、402位基因多态性与尿钙结石相关的临床特征和基因型分布无统计学差异。结论：OPN基因9,402位多态与尿钙结石高度相关，是评估尿钙结石遗传风险的候选遗传标志，而OPN基因9,171位多态与尿钙结石无关联。