The relationship between of ACE I/D and the MTHFR C677T polymorphisms in the pathophysiology of type 2 diabetes mellitus in a population of Brazilian obese patients

ABSTRACT Objectives This study aimed to evaluate the frequencies of the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms in obese patients with and without type 2 diabetes mellitus (T2DM). Subjects and methods These polymorphisms were analyzed by polymerase chain reaction in 125 patients with obesity, 47 (T2DM) and 78 (Control Group). Results No significant difference was found on comparing the T2DM and Control Groups in respect to the genotypic frequencies of the polymorphisms - (II: 13.3% vs. 12.0%; ID: 37.8% vs. 37.3; DD: 48.9% vs. 50.7%; CC: 36.2% vs. 39.0%; CT: 46.8% vs. 49.3%; TT: 17.0% vs. 11.7%), and alleles (I: 32.2% vs. 30.7%; D: 67.8% vs. 69.3%; C: 59.6% vs. 63.6%; T: 40.4% vs. 36.4%) and their synergisms in the pathophysiology of T2DM. On analyzing the T2DM Group, there were no significant differences in the presence of complications. In this population of Brazilian obese patients, no correlation was found between the ACE and MTHFR polymorphisms in the development of T2DM. Conclusion Analyzing only the group with diabetes, there was also no relationship between these polymorphisms and comorbidities.

摘要
研究目的：本研究旨在评估伴或不伴2型糖尿病（type 2 diabetes mellitus, T2DM）的肥胖患者中，血管紧张素转换酶（angiotensin converting enzyme, ACE）基因插入/缺失（insertion/deletion, I/D）多态性与亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase, MTHFR）基因C677T多态性的分布频率。
研究对象与方法：本研究采用聚合酶链反应（polymerase chain reaction）对125例肥胖患者进行上述多态性分析，其中47例合并2型糖尿病（T2DM组），78例为对照组。
结果：对比T2DM组与对照组，两种多态性的基因型频率[II型：13.3%与12.0%；ID型：37.8%与37.3%；DD型：48.9%与50.7%；CC型：36.2%与39.0%；CT型：46.8%与49.3%；TT型：17.0%与11.7%]及等位基因频率[I等位基因：32.2%与30.7%；D等位基因：67.8%与69.3%；C等位基因：59.6%与63.6%；T等位基因：40.4%与36.4%]均无显著差异，二者的协同作用与T2DM的病理生理机制亦无明显关联。对T2DM组进行亚组分析时，合并并发症与未合并并发症的患者间上述多态性的分布亦无显著差异。在本次巴西肥胖患者队列中，未发现ACE与MTHFR多态性与T2DM发病存在相关性。
结论：仅针对糖尿病组进行分析时，上述多态性与合并症亦无关联。