Genetics Unit, Mansoura University, Mansoura, Egypt.
J Renin Angiotensin Aldosterone Syst. 2012 Dec;13(4):472-7. doi: 10.1177/1470320312444651. Epub 2012 May 3.
Genetic variations have been proposed to play a role in the susceptibility to diabetic nephropathy.
To check for the association of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and angiotensin converting enzyme (ACE) genes with the development of diabetic nephropathy among type 2 diabetic patients.
Participants comprised 202 patients with type 2 diabetes, of whom 102 were affected with diabetic nephropathy. Genetic variants corresponding to MTHFR C677T, A1298C and ACE I/D genotypes were determined using the PCR technique coupled with digestion and restriction analysis.
Cases with diabetic nephropathy had a significantly higher frequency of the MTHFR 677 TT, 677 CT, ACE DD mutant genotypes compared with diabetic cases without nephropathy. Analysis of the association of studied MTHFR C677T, A1298C and ACE I/D polymorphisms with albuminuria showed that the MTHFR 677 T polymorphism, in the recessive and dominant models, was a risk factor for both micro and macroalbuminuria, while the ACE DD mutant genotype was a risk factor for microalbuminuria and the MTHFR 1298C in the dominant model only was a risk factor for macroalbuminuria.
These findings indicate that ACE and MTHFR genetic polymorphisms might be considered as genetic risk factors for diabetic nephropathy among patients with type 2 diabetes.
遗传变异被认为在糖尿病肾病易感性中起作用。
检查亚甲基四氢叶酸还原酶（MTHFR）和血管紧张素转换酶（ACE）基因的遗传多态性与 2 型糖尿病患者糖尿病肾病的发展之间的关联。
参与者包括 202 名 2 型糖尿病患者，其中 102 名患有糖尿病肾病。使用聚合酶链反应（PCR）技术结合消化和限制分析确定 MTHFR C677T、A1298C 和 ACE I/D 基因型的遗传变异。
患有糖尿病肾病的病例与没有肾病的糖尿病病例相比，MTHFR 677 TT、677 CT、ACE DD 突变基因型的频率明显更高。对研究的 MTHFR C677T、A1298C 和 ACE I/D 多态性与白蛋白尿的关联进行分析后表明，MTHFR 677 T 多态性在隐性和显性模型中都是微白蛋白尿和大量白蛋白尿的危险因素，而 ACE DD 突变基因型是微白蛋白尿的危险因素，MTHFR 1298C 仅在显性模型中是大量白蛋白尿的危险因素。
这些发现表明，ACE 和 MTHFR 遗传多态性可能被认为是 2 型糖尿病患者糖尿病肾病的遗传危险因素。
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