Klotho基因与新疆地区维吾尔族、汉族特发性草酸钙肾结石的相关性

The relationship between Klotho gene and idiopathic calcium oxalate renal calculi in Uygur and Han nationalities in Xinjiang

目的探讨Klotho基因rs3752472、rs564481、rs1456824303个位点多态性与新疆地区维吾尔族、汉族特发性草酸钙肾结石(ICOS)的相关性。方法选择399例维吾尔族特发性草酸钙肾结石患者(维族病例组)、410例维吾尔族健康体检者(维族对照组)、412例汉族特发性草酸钙肾结石患者(汉族病例组)、400例汉族健康体检者(汉族对照组),应用SnaPshot方法对Klotho基因rs3752472、rs564481、rs145682430的3个位点进行基因检测。结果rs3752472在汉族病例组和汉族对照组中CC基因型与含T基因型存在差异[OR=0.518,95%CI(0.349~0.768),P<0.05],CC纯合子基因型比TT纯合子基因型和CT杂合子基因型携带者发生ICOS的风险降低0.518倍,rs3752472的CC基因型与含T基因型在维族病例组和汉族病例组中具有差异[OR=1.708,95%CI(1.164~2.506),P<0.05];rs564481在维族对照组和汉族对照组中CC基因型与含T基因型存在差异[OR=0.510,95%CI(0.386~0.675),P<0.05];rs564481在维族病例组和汉族病例组中CC基因型与含T基因型存在差异[OR=0.551,95%CI(0.416~0.731),P<0.05]。与汉族病例组相比,rs145682430的CC基因型在维族病例组中出现频率更高[OR=5.703,95%CI(2.363~13.767),P<0.05]。结论Klotho基因rs3752472位点在汉族病例组和汉族对照组比较中,C等位基因是新疆地区汉族人群特发性草酸钙肾结石发病的保护因素,rs145682430、rs564481等位基因C则更易出现在汉族(病例组和对照组)人群中,但与汉族人群的发病未见明显相关。

Objective To investigate the association between rs3752472,rs564481 and rs145682430 polymorphisms of Klotho gene and idiopathic calcium oxalate stones(ICOS)in Uygur and Han nationalities in Xinjiang.Methods A total of399 Uygur ICOS patients,410 healthy Uygur controls,412 Han ICOS patients and400 healthy Han controls were enrolled.The Rs3752472,rs564481 and rs145682430 loci of Klotho gene were detected with SnaPshot.Results There were differences in CC genotype and T-containing genotype of rs3752472 between Han case group and control group(OR=0.518,95%CI:0.349-0.768,P<0.05).Carriers with CC homozygous genotype were 0.518-fold less likely to develop ICOS than carriers with TT homozygous and CT heterozygous genotypes.There were differences in CC genotype and T-containing genotype of rs3752472 between Uygur and Han case groups(OR=1.708,95%CI:1.164-2.506,P<0.05).There were differences in CC genotype and T-containing genotype of rs564481 between Uygur and Han controls(OR=0.510,95%CI:0.386-0.675,P<0.05).There were differences in CC genotype and T-containing genotype between Uygur and Han case groups(OR=0.551,95%CI:0.416-0.731,P<0.05).In the comparison of rs145682430 between Uygur and Han case groups,the frequency of CC genotype was higher in Uygur case group(OR=5.703,95%CI:2.363-13.767,P<0.05).Conclusion The allele C of rs3752472 is a protective factor of ICOS,while allele C of rs145682430 and rs564481 are more likely to be found in Han population(case group and control group),but have no significant correlation with ICOS.