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Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population

机译:常见的变体ALPL基因做出贡献汉人肾结石的风险人口

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摘要

Objective: Kidney stone formation is a complex disorder that likely results from both dietary and genetic factors. A recent study identified an association between the risk of kidney stones and polymorphisms in the ALPL gene, but the study needs replication. To confirm whether the ALPL gene is universally associated with kidney stones, the present study further investigated polymorphisms of the ALPL gene in a Han Chinese population. Methods: A total of 331 kidney stone patients and 553 unrelated healthy controls were included in the present case-control study. We conducted genetic analyses to detect the association of 19 tagging single nucleotide polymorphisms (SNPs) with kidney stones. In addition, we examined the relations between targeted SNP(s) and several clinical characteristics of kidney stones in the patients. Results: Genetic association analyses using logistic regression models identified one ALPL SNP, rs1256328, which was significantly associated with the kidney stone disease status (OR=1.52, p=0.0009). No significant results were obtained through association tests between genotypes of this SNP and the various clinical characteristics of kidney stone patients. Conclusion: The ALPL SNP, rs1256328, was identified as being significantly associated with kidney stone disease status in a large Chinese Han cohort. Our study replicated a previous genome-wide association study that was conducted in an Icelandic population.
机译:摘要目的:肾结石的形成是一个复杂的饮食障碍,可能的结果和遗传因素。肾结石和的风险之间的联系在ALPL基因多态性,但这项研究需要复制。基因是普遍与肾有关石头,本研究进一步调查在汉族ALPL基因的多态性人口。病人和553个不相关的健康对照组包含在目前的病例对照研究。进行了遗传分析检测协会19标签单核苷酸多态性与肾结石。我们检查了之间的关系有针对性的SNP (s)和一些临床肾结石患者的特征。结果:基因关联分析使用逻辑回归模型确定ALPL之一SNP, rs1256328明显与肾结石疾病状态有关(或= 1.52,p = 0.0009)。通过协会之间的测试这个SNP基因型和各种临床肾结石患者的特征。结论:ALPL SNP, rs1256328,确定是显著相关的中国大型肾结石疾病状态汉族人群。全基因组关联研究冰岛的人口。

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