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中国新疆维吾尔族人群中Klotho基因多态性与草酸钙结石的关联研究

Association Study of Klotho Gene Polymorphism With Calcium Oxalate Stones in The Uyghur Population of Xinjiang, China.

作者信息

Ali Abdusamat, Tursun Halmurat, Talat Alim, Abla Akpar, Muhtar Erpan, Zhang Tao, Mahmut Murat

机构信息

Department of Urology, The Second Affiliated Hospital of Xinjiang Medical University, Urumqi ,Xinjiang, China.

Department of Urology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi ,Xinjiang, China.

出版信息

Urol J. 2017 Jan 18;14(1):2939-2943.

Abstract

PURPOSE

The aim of the present study was to investigate the correlation between Klotho gene polymorphisms andcalcium oxalate stones in Xinjiang Uyghur people.

MATERIALS AND METHODS

We compared 128 patients with calcium oxalate stones (case group) and 94 healthypeople (control group), detected the genotype and allele distributions of single-nucleotide polymorphisms (SNPs)of the Klotho gene (rs3752472, rs650439, and rs1207568) by reverse transcription polymerase chain reaction.

RESULTS

The distributions of the genotype and allele frequencies of the SNPs were consistent with the Hardy-Weinberg equilibrium in the two groups. There were statistically significant differences between the genotype andallele distributions of rs3752472 between the case and control groups; the allele frequencies in the case/controlgroups were C = 240 (93.7%)/151 (80.3%) and T = 16 (6.3%)/37 (19.7%). There was no statistically significantdifference in the genotype distribution of rs650439 between the case and control groups, but there was a differencein the allele distribution; the allele frequencies in the case/control groups were A = 202 (78.9%)/143 (57.2%) andT = 54 (21.1%)/107 (42.8%). There were no statistically significant differences in genotype and allele distributionsbetween the case and control groups of rs1207568; the allele frequencies in the case/control groups were C = 194(71.3%)/145 (77.1%) and T = 78 (28.7%)/43 (22.9%). In rs3752472, the risk for patients with the C and A allelesincreased by 3.675 and 2.799 times, respectively.

CONCLUSION

The rs3752472 and rs650439 SNPs are related to the risk of calcium oxalate stones in Xinjiang Uyghurpeople, and might be one of the risk factors.

摘要

目的

本研究旨在探讨新疆维吾尔族人群中Klotho基因多态性与草酸钙结石之间的相关性。

材料与方法

我们比较了128例草酸钙结石患者(病例组)和94例健康人(对照组),通过逆转录聚合酶链反应检测Klotho基因单核苷酸多态性(SNP)(rs3752472、rs650439和rs1207568)的基因型和等位基因分布。

结果

两组中SNP的基因型和等位基因频率分布均符合Hardy-Weinberg平衡。病例组和对照组之间rs375,2472的基因型和等位基因分布存在统计学显著差异;病例/对照组的等位基因频率分别为C = 240(93.7%)/151(80.3%)和T = 16(6.3%)/37(19.7%)。病例组和对照组之间rs650439的基因型分布无统计学显著差异,但等位基因分布存在差异;病例/对照组的等位基因频率分别为A = 202(78.9%)/143(57.2%)和T = 54(21.1%)/107(42.8%)。病例组和对照组之间rs1207568的基因型和等位基因分布无统计学显著差异;病例/对照组的等位基因频率分别为C = 194(71.3%)/145(77.1%)和T = 78(28.7%)/43(22.9%)。在rs3752472中,携带C和A等位基因的患者风险分别增加3.675倍和2.799倍。

结论

rs3752472和rs650439 SNP与新疆维吾尔族人群草酸钙结石风险相关,可能是风险因素之一。

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