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目的探讨Klotho基因多态性及血脂、电解质与草酸钙结石的相关性。方法采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法检测128例草酸钙结石患者(病例组)和94例健康志愿者(对照组)Klotho基因rs3752472、rs650439和rs1207568位点多态性,并分析病例组与对照组中基因型分布差异以及病例组中不同基因型携带者的电解质、血脂水平差异。结果 Klotho基因SNP rs3752472多态性,其两组基因型分布差异有统计学意义(OR=3.707,95%CI:1.861~7.384;χ~2=14.912,P<0.05),病例组中C/C与C/T+T/T基因型携带者相比较,钙磷水平差异有统计学意义(P<0.05),血镁、血钠水平差异无统计学意义;低密度脂蛋白胆固醇(LDL-C)水平差异有统计学意义;三酰甘油(TG)、总胆固醇(TC)以及高密度脂蛋白胆固醇(HDL-C)水平比较差异无统计学意义;其余两组病例组与对照组相比较基因型分布差异无统计学意义,病例组内不同基因型携带者电解质和血脂比较差异无统计学意义。结论 Klotho基因SNP rs3752472多态性,是与新疆地区维吾尔族人群草酸钙结石发病风险相关的;在病例组中,C/C基因型者的血钙、血磷及LDL-C均高于CT+TT者;Klotho基因rs3752472多态性位点可能通过调节钙磷代谢、LDL-C水平来影响草酸钙结石的成石。
Objective To investigate the relationship between Klotho gene polymorphisms and blood lipids, electrolytes and calcium oxalate stones. Methods PCR-RFLP was used to detect the association between Klotho gene rs3752472, rs650439 and rs1207568 in 128 patients with calcium oxalate stone (case group) and 94 healthy volunteers (control group) Point polymorphism and analysis of genotype distribution differences between case group and control group as well as electrolyte and lipid levels in different genotype carriers in case group. Results The SNP rs3752472 polymorphism of Klotho gene was significantly different between the two groups (OR = 3.707, 95% CI: 1.861-7.384; X2 = 14.912, P <0.05) Compared with carriers of C / T + T / T genotypes, the levels of calcium and phosphorus had statistical significance (P <0.05), while there was no significant difference in serum magnesium and serum sodium levels. LDL-C ) Levels had statistical significance; TG, TC and HDL-C levels had no significant difference; the other two groups compared with the control group There was no statistically significant difference in the distribution of electrolytes and lipids among different genotype carriers in the case group. Conclusion The SNP rs3752472 polymorphism of Klotho gene is associated with the risk of oxalic stone in Xinjiang Uygur population. In the case group, the serum calcium, phosphorus and LDL-C of C / C genotype were higher than that of CT + TT; Klotho gene rs3752472 polymorphism may regulate calcium and phosphorus metabolism, LDL-C levels to affect the stone formation of calcium oxalate stones.