凝血酶原基因rs5896位点多态性与老年人肾结石相关性分析

Association between rs5896 polymorphism of prothrombin gene and renal calculi in elderly patients

目的探讨凝血酶原基因rs5896位点多态性与老年人肾结石相关性。方法选取浙江省医疗健康集团杭州医院2014年1月至2016年12月收治的老年肾结石患者90例为观察组;另选择同期在该院健康体检者80例为对照组。采用反转录聚合酶链式扩增法检测凝血酶原基因rs5896位点多态性,比较两组差异。结果观察组rs5896位点等位基因T频率(64.44%)多于对照组(46.25%)(χ^2=5.687),且TT基因型(54.44%)多于对照组(38.75%)(χ^2=4.187,P<0.05)。多发结石rs5896位点TT基因型(77.78%)多于单发结石(38.89%),而CC基因型(16.67%)少于单发结石(37.04%)(χ^2=13.171、4.363,均P<0.05)。TT型血清尿酸水平[(434.21±78.13)μmol/L]高于CC+CT型[(245.73±54.20)μmol/L](t=13.038,P<0.05);而不同基因型血清肌酐、钙、磷和钾变化比较差异无统计学意义(P>0.05)。TT型尿液中尿酸水平[(415.32±56.63)μmol/L]高于CC+CT型[(267.31±67.18)μmol/L](t=11.343,P<0.05);而不同基因型尿液中钙、磷和钾变化比较差异无统计学意义(P>0.05)。结论老年肾结石凝血酶原基因rs5896位点T基因频率较高,且基因型TT频率较高,T基因可能是易感基因,该位点可能通过尿酸代谢障碍导致肾结石发生,值得临床借鉴。

Objective To investigate the relationship between rs5896 polymorphism of prothrombin gene and renal calculi in the elderly patients.Methods Ninety elderly patients with kidney stones admitted to Hangzhou Hospital of Zhejiang Medical and Health Group from January 2014 to December 2016 were selected as observation group,and another 80 healthy people during the same period were selected as control group.The prothrombin gene rs5896 polymorphism was detected by RT-PCR,and the differences between the two groups were compared.Results The T frequency of rs5896 allele in the observation group(64.44%)was higher than that in the control group(46.25%)(χ^2=5.687),and the TT genotype(54.44%)was higher than that in the control group(38.75%)(χ^2=4.187,P<0.05).TT genotype(77.78%)at rs5896 locus was more than single stone(38.89%),and CC genotype(16.67%)was less than single stone(37.04%)(χ^2=13.171,4.363,all P<0.05).The serum uric acid level of TT type[(434.21±78.13)μmol/L]was higher than that of CC+CT type[(245.73±54.20)μmol/L](t=13.038,P<0.05).The serum creatinine,calcium,phosphorus and potassium levels of different genotypes had not statistically significant differents(all P>0.05).The urine level of uric acid in TT-type[(415.32±56.63)μmol/L]was higher than that in CC+CT type[(267.31±67.18)μmol/L](t=11.343,P<0.05),but there were no statistically significant differences in the changes of calcium,phosphorus and potassium in different genotypes of urine(all P>0.05).Conclusion The T gene frequency of prothrombin gene rs5896 is higher and TT genotype frequency is higher in elderly patients with renal calculi.It is suggested that T gene may be a susceptible gene and that this site may lead to renal calculi through uric acid metabolic disorder,which is worthy of clinical reference.