凝血酶原基因rs5896位点C＞T多态性与肾结石的 相关性

目的：探讨凝血酶原基因rs5896位点C＞T多态性与浙南地区人群肾结石的相关性。方法：采用PCR-RFLP和测序技术分析102例肾结石患者（病例组）和年龄相匹配的95例健康人群（对照组）凝血酶原基因rs5896位点，比较此位点2组间基因型频率和等位基因频率差异。结果：凝血酶原基因rs5896位点CC、CT和TT基因型频率在病例组为13.7%、50.9%和35.4%，对照组为24.2%、51.6%和24.2%，2组比较差异有统计学意义（P=0.028）；等位基因C、T频率在病例组和对照组分别为39.2%、60.8%和50.0%、50.0%，差异有统计学意义（P=0.031）。结论：凝血酶原基因rs5896位点多态性与浙南地区人群患肾结石具有关联性，rs5896位点C＞T变异可能是肾结石的易感因素。

Correlation between prothrombin gene polymorphism of rs5896 C>T and kidney stone

Objective: To investigate the correlation between prothrombin rs5896 C>T genetic polymorphism and kidney stone in the southern population of Zhejiang. Methods: Prothrombin gene polymorphism rs5896 was investigated in 102 patients with renal stone formation and 95 age-matched healthy volunteers without history of renal stone formation, using polymerase chain reaction-restriction fragment polymorphism (PCR-RFLP) and sequencing. The frequences of genetype and allele gene in the case and control were analyzed. Results: The frequencies of CC, CT, TT were 13.7%, 50.9%, 35.4% and 24.2%, 51.6%, 24.2% in kidney stone patients and healthy controls respectively. The difference between case and control was slight significance (P=0.028). The frequencies of C and T were 39.2%, 60.8% and 50.0%, 50.0% in kidney stone patients and heathy control. There was a different significance (P=0.031). Conclusion: It suggests that the rs5896 polymorphism of prothrombin gene is associated with the kidney stone in the southern population of Zhejiang, and it is possible that rs5896 C>T acts as a risk factor for the development of renal stone disease.