目的 探讨EDN1基因的遗传多态性对汉族2型糖尿病肾病发生的影响。方法 选取2020年1月至12月就诊华北石油管理局总医院汉族2型糖尿病患者120例,包括60例2型糖尿病肾病患者和60例性别、年龄相匹配的未患糖尿病肾病的2型糖尿病患者。通过聚合酶链反应(PCR)技术检测EDN1 rs5370基因位点的多态性。结果 糖尿病肾病组血清总胆固醇、三酰甘油、低密度脂蛋白、血清尿素氮、血清肌酐和血清尿酸显著高于非糖尿病肾病组(P＜0.05)。EDN1基因的rs5370等位基因在糖尿病肾病组与非糖尿病肾病组间分布存在显著差异。携带T/T基因型的个体相比于携带G/G基因型的个体,糖尿病肾病的发生风险显著降低[OR=0.357, 95%CI(0.132、0.963),P=0.042]。此外,携带等位基因T的个体相比于携带等位基因G的个体,其糖尿病肾病的风险也显著降低[OR=0.565,95%CI(0.339、0.942),P=0.029]。结论 EDN1基因的rs5370多态性可能与2型糖尿病肾病的发生风险相关,T等位基因可能对糖尿病肾病发生具有保护作用。
Abstract
Objective To investigate the effect of genetic polymorphism of EDN1 gene on the incidence of type 2 diabetic nephropathy among the Han nationality in northern China. Methods This study involved 120 Han population, including 60 patients with type 2 diabetic nephropathy and 60 patients with type 2 diabetes but without nephropathy matched by sex and age. Polymorphisms of EDN1 rs5370 locus were detected using polymerase chain reaction (PCR) techniques. Results Serum levels of total cholesterol, triglycerides, low-density lipoprotein, creatinine and uric acid were notably elevated in the diabetic nephropathy group compared with the non-nephropathy diabetes group. There was a significant difference in the distribution of the EDN1 rs5370 alleles between the groups. Individuals with T/T genotype had a significantly lower risk of diabetic nephropathy compared to those with G/G genotype [OR=0.357, 95%CI(0.132-0.963), P=0.042]. Additionally, individuals with T allele had a significantly lower risk of diabetic nephropathy compared to those with G allele [OR=0.565, 95%CI(0.339-0.942), P=0.029]. Conclusions The rs5370 polymorphism of EDN1 gene may be associated with the risk of type 2 diabetic nephropathy, especially the T allele may offer a protective effect. These findings provide important insights into the genetic mechanisms of diabetic nephropathy and may influence future strategies for prevention and treatment.
关键词
DN /
EDN1 /
基因多态性
Key words
diabetic nephropathy /
EDN1 /
gene polymorphism
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参考文献
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基金
首都医科大学附属北京地坛医院“优秀青年人才培养计划”(QS202401);北京市朝阳区委组织部“凤凰计划·青年拔尖人才”项目(QB202112-01)
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