山西地区2型糖尿病患者非酒精性脂肪肝与同型半胱氨酸及亚甲基四氢叶酸还原酶基因多态性的关系

目的探讨血浆同型半胱氨酸（Hcy）水平及亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态性与2型糖尿病（T2DM）患者合并非酒精性脂肪肝的关系。方法对伴和不伴非酒精性脂肪肝的159例T2DM患者行血浆Hcy、叶酸、VitB12、糖化血红蛋白（HbAlc）、血糖水平测定，以PCR-限制性片段长度多态性分析技术检测MTHFR基因C677T多态性，并与52例正常者（对照组）比较。结果单纯糖尿病组（96例）和非酒精性脂肪肝组（63例）高Hcy血症发生率分别为21％（20／96）和49％（31／63），高于对照组（8％，4／52），非酒精性脂肪肝组又高于单纯糖尿病组（均P〈0．05）；T2DM患者血浆Hcy水平与MTHFR基因型、HbAlc、血糖水平呈正相关（r值分别为0．248，0．423和0．242，均P〈0．05）；logistic回归分析显示，病程、体重指数、空腹血糖、Hcy均为T2DM非酒精性脂肪肝的独立危险因素。结论高Hcy血症是T2DM非酒精性脂肪肝的危险因素；MTHFR基因型、叶酸、VitB12以及代谢紊乱程度影响血浆Hcy水平。

Association of non-alcoholic fatty liver with plasma homocysteine and the methylenetetrahydrofolate reductase gene polymorphism in patients of type 2 diabetes mellitus in Shanxi, China

To investigate the relationship between plasma level of homocysteine(Hcy) and the methylenetetrahydrofolate reductase ( MTHFR ) gene polyroorphism with non-alcoholic fatty liver in patients with type 2 diabetes mellitus (T2DM). Methods In a case-control study, plasma levels of Hcy, folic acid (FA), vitamin B12 (VitB12), glycosylated hemoglobin Alc (HbAlc), fasting blood glucose (FBG), total cholesterol and triglyceride were measured in 159 T2DM patients with and without non-alcoholic fatty liver ( NAFL), as well as 52 normal controls. Mutation of the C677T of MTHFR gene was determined by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) for all of them. Results Patients of T2DM both without NAFL (96 case) and with NAFL had higher prevalence of hyperhomocysteinemia (Hhcy) (49% and 21%, respectively ) than normal controls did (4 cases, 8% ) (P<0.05), while patients of T2DM with NAFL had higher prevalence of Hhcy than those without it did (P <0. 05). Plasma level of Hey positively correlated to genotype frequency of the MTHFR gene, plasma 0levels of HbAlc and FBG in patients of T2DM, with coefficients of correlation of 0.248, 0.423 and 0.242, respectively (P < 0.05). Results of multiple logistic regression analysis showed that course of the disease, body mass index, plasma levels of FBG and Hcy all were independent risk factors for non-alcoholic fatty liver in patients with T2DM. Conclusions Hhey was an independent risk for non-alcoholic fatty liver and plasma level of Hey was influenced by frequency of the TT genotype of the MTHFR gene, plasma levels of FA and VitB12, as well as metabolic disturbance in patients with T2DM.