Association of calcium oxalate stones and gene Klotho polymorphism in Uighur population of Xinjiang region

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Objective To investigate the association of calcium oxalate stones and Klotho gene polymorphism in Uighur population of Xinjiang region. Methods Klotho gene polymorphisms was genotyped by Polymerase chain reaction-restriction fragment length polymorphism analysis(PCR-RFLP) method in 128 cases of patients with calcium oxalate stones(patient group)and 94 cases of normal people(control group)and the allele distribution and comparative analysis of genetype and was performed. Results Single Nucleotide Polymorphism(SNP)rs3752472,SNP rs650439 SNP rs1207568 of Klotho gene were detected, in patient group and control group, the genotype distribution of the three locis are in compliance with Hardy-Weinberg equilibrium.For Klotho gene rs3752472 polymorphism, the statistical results of its genotype was odds ratio(OR)= 3. 707, 95% confidence interval(CI):1. 861-7. 384,χ2= 14. 912, P 0. 05, the statistical results of its allele was OR= 2. 799, 95% CI: 1. 893-4. 138,P 0. 085, the statistical results of its allele was OR= 0. 738, 95% CI: 0. 480-1. 134, P> 0. 05, allele frequencies of patient/control group were C= 194 (71. 3%)/145(77. 1%), T= 78(28. 7%)/43(22. 9%). Conclusion The rs3752472 polymorphism of klotho gene is associated with the risk of calcium oxalate urolithiasis in Xinjiang region,and may be one of risk factors in the pathogenesis of calcium oxalate stones, In addition, the Klotho gene SNP polymorphism of rs650439 allele distribution was statistically significant, the rs650439 polymorphism may be associated with pathogenesis of calcium oxalate, and A allele carriers had higher risk of calcium oxalate stones. Key words: Calcium oxalate stones; Klotho gene; Single nucleotide polymorphism; Uighur