Association Study of Klotho Gene Polymorphism With Calcium Oxalate Stones in The Uyghur Population of Xinjiang, China.
Association Study of Klotho Gene Polymorphism With Calcium Oxalate Stones in The Uyghur Population of Xinjiang, China.
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DOI：
10.22037/uj.v14i1.3636
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发表时间：
2017-01
期刊：
影响因子：
1.5
通讯作者：
Abdusamat Ali;Halmurat Tursun;Alim Talat;A. Abla;Erpan Muhtar;Tao Zhang;Murat Mahmut
中科院分区：
文献类型：
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作者：
Abdusamat Ali;Halmurat Tursun;Alim Talat;A. Abla;Erpan Muhtar;Tao Zhang;Murat Mahmut
目的本研究旨在探讨新疆维吾尔族Klotho基因多态性与草酸钙结石的相关性。材料和方法我们比较了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了Klotho基因的单核苷酸多态性（SNP）（rs3752472、rs650439和rs1207568）的基因型和等位基因分布。结果两组SNPs基因型和等位基因频率的分布符合Hardy-Weinberg平衡。病例组与对照组rs3752472基因型及等位基因分布差异有统计学意义；病例组/对照组的等位基因频率为 C = 240 (93.7%)/151 (80.3%) 和 T = 16 (6.3%)/37 (19.7%)。病例组与对照组间rs650439基因型分布无统计学差异，但等位基因分布存在差异；病例/对照组的等位基因频率为A = 202 (78.9%)/143 (57.2%)和T = 54 (21.1%)/107 (42.8%)。 rs1207568病例组与对照组基因型及等位基因分布无统计学差异；病例/对照组的等位基因频率为C = 194（71.3％）/ 145（77.1％）和T = 78（28.7％）/ 43（22.9％）。在rs3752472中，携带C和A等位基因的患者的风险分别增加了3.675和2.799倍。结论 rs3752472和rs650439 SNPs与新疆维吾尔族草酸钙结石的患病风险相关，可能是其危险因素之一。
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.