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目的探讨硫酸乙酰肝素蛋白多糖(HSPG)基因多态性与中国汉族人群草酸钙肾结石易感性的关系。方法以病例对照研究方法,提取143例草酸钙肾结石患者及157例健康对照者外周血标本基因组DNA,应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)分析技术,检测并分析HPSG基因rs3767140位点单核甘酸多态性与草酸钙肾结石的关系。结果HPSG基因等位基因频率分布符合Hardy-Weinberg平衡定律,结石组GG+GT、TT基因型分布频率分别为69.23%、30.77%,健康对照组分别为79.62%、20.38%(P<0.05),TT基因型个体患结石的风险是其它基因型的1.736倍(95%CI=1.026～2.938),结石组与对照组等位基因G、T分布频率分别为:45.10%、55.90%和54.14%、45.86%(P<0.05),未发现HPSG基因多态性与草酸钙结石的复发相关。结论HPSG基因多态性与草酸钙尿路结石有相关关系,TT基因型可作为草酸钙结石危险因素的标志。
Objective To investigate the relationship between heparan sulfate proteoglycan (HSPG) gene polymorphism and susceptibility to calcium oxalate and kidney stones in Chinese Han population. Methods A total of 143 cases of patients with calcium oxalate and 157 healthy controls were enrolled in this study. The genomic DNA of peripheral blood samples was extracted from 143 patients with kidney stones and detected by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) Analysis of HPSG gene rs3767140 SNP polymorphism associated with calcium oxalate stone. Results The frequency distribution of alleles of HPSG gene was in accordance with Hardy-Weinberg equilibrium law. The frequencies of GG + GT and TT genotypes were 69.23% and 30.77% respectively in the stone group, 79.62% and 20.38% (P <0.05) respectively in the healthy control group, The risk of calcification in individuals with TT genotype was 1.736 times (95% CI = 1.026-2.938) compared with other genotypes. The frequency of G and T alleles in the calculi group and control group were 45.10%, 55.90% and 54.14%, respectively, 45.86% (P <0.05). No association of HPSG gene polymorphism with the recurrence of calcium oxalate stones was found. Conclusion HPSG gene polymorphism is associated with calcium oxalate urolithiasis. TT genotype may be a marker of risk factors for calcium oxalate stones.