SLC2A9基因rs938552位点多态性与肾结石相关性研究  

Correlation between SLC2A9 Gene rs938552 Polymorphism and Nephrolithiasis

作　　者：游攀 马杰[2] 杨佳伟[2] 张鹤[2] 徐冀东[2] 胡传义[2] YOU Pan;MA Jie;YANG Jiawei;ZHANG He;XU Jidong;HU Chuanyi(Ningxia Medical University,Yinchuan 750004,China;Department of Urology,Shanghai Pudong New Area Gongli Hospital,Shanghai 200135,China)

机构地区：[1]宁夏医科大学,银川750004 [2]上海市浦东新区公利医院泌尿外科,上海200135

出　　处：《宁夏医科大学学报》2021年第1期17-21,共5页Journal of Ningxia Medical University

基　　金：上海市浦东新区卫生和计划生育委员会医学领先人才资助项目(PWR12016-05);上海市卫生和计划生育委员会重点专科建设计划项目(ZK2015A11)。

摘　　要：目的探讨葡萄糖易化转运蛋白9(SLC2A9)基因rs938552位点多态性与肾结石的关系。方法选择华东地区高尿酸血症合并肾结石患者(病例组)及健康对照组各300例,用聚合酶链式反应(PCR)扩增SLC2A9基因SNP位点rs938552序列,Sanger法测序扩增产物;同时检测病例组血清、尿液的生化代谢指标;采用红外光谱分析法检测病例组结石成分。分析病例组与对照组中基因型分布差异;分析病例组中不同基因型携带者的血、尿电解质、尿酸等代谢水平的差异;分析病例组中结石成分的差异。结果 SLC2A9基因rs938552位点基因型与等位基因频率在病例组和健康对照组差异均有统计学意义(P均<0.001),携带杂合型(CT)和突变型(TT)的人群患肾结石的风险是携带野生型(CC)人群的2.933倍(OR=2.933,95%CI:1.632~5.264,P<0.001);病例组中CC基因型者血液尿酸、尿液尿酸和尿钙均低于CT+TT基因型者,前者尿pH值高于后者(P均<0.05),其他代谢指标差异均无统计学意义(P均>0.05);病例组中携带CC基因型者与携带CT+TT基因型者比较,后者结石成分草酸钙和尿酸的比例高于前者(P均<0.05)。结论 SLC2A9基因rs938552位点多态性与华东地区汉族人群患肾结石的风险有关联。Objective To investigate the relationship between rs938552 polymorphism of SLC2A9 gene and nephrolithiasis. Methods rs938552 of SLC2A9 gene was investigated in 300 patients of hyperuricemia combined with renal stone formation(case group) and 300 age-matched healthy volunteers without history of renal stone formation(control group),using polymerase chain reaction(PCR)and Sanger sequence detection,and the genotype distribution was compared between the two groups. Biochemical markers of serum and urine of the patients were detected,and the composition of stones in case group was detected by infrared spectroscopy.The differences of genotype distribution between the case group and the control group were analyzed;the differences of blood,urine electrolyte,uric acid and other metabolic levels of carriers with different genotypes in the case group were analyzed;and the differences of stone composition in the case group were analyzed.Results The genotype and allele frequency of rs938552 locus in SLC2A9 gene was significantiy different between the case and the control group(P all<0. 001). People with heterozygous(CT) and mutant(TT)risk of kidney stones were 2.933 times more likely to carry wild-type(CC)population(OR=2.993,95% CI:1.632-5.264,P<0.001). The blood uric acid,uric acid and urinary calcium of the CC genotype in the case group were lower than those of the CT+TT genotype. The urine pH value of the former was higher than the latter(P all<0. 05),other metabolic indicators were not statistically significant(P all>0.05). Comparison of CT genotype and CT+TT genotype in case group,the components of the stone such as calcium oxalate and uric acid in the CT+TT genotype were significantly higher than the former(P all<0.05). Conclusion SLC2A9 gene rs938552 polymorphism is associated with the risk of kidney stones in Han population in East China.

关 键 词：葡萄糖易化转运蛋白9 基因多态性 肾结石 

分 类 号：R692.4[医药卫生—泌尿科学]