目的：研究亚甲基四氢叶酸还原酶（MTHFR）基因多态性与2型糖尿病肾病（DN）的关系。方法应用聚合酶链反应-限制性片段长度多态性的方法，检测桂东南地区2型糖尿病患者163例 MTHFR 基因 C677T 多态性，其中 DN 82例、单纯糖尿病（DM）81例和健康对照组（CON）77例。同时检测血清同型半胱氨酸（Hcy）水平，并比较各组间 MTHFR 基因型频率、等位基因频率和 Hcy 水平。结果DN 组 MTHFR 基因纯合基因型（TT）、杂合基因型（CT）及 T 等位基因频率（分别为4．9％、37．8％和23．8％）均明显高于 DM 组（分别为2．5％、28．4％和16．7％）和 CON 组（分别为0．0％、29．8％和14．9％），基因型和等位基因频率分布差异均有统计学意义（P ＜0．05），而 DM 组和 CON 组之间的分布差异无统计学意义（P ＞0．05）。单因素 Logistic 回归分析结果显示，MTHFR 基因型 C677T 多态性与 DN 的发生密切相关（OR 值及其95％CI 分别为1．660、1．038和2．655）。携带T 等位基因患者血中 Hcy 水平显著高于未携带 T 等位基因患者，差异有统计学意义（P ＜0．01）。结论MTHFR 基因 C677T 多态性与桂东南地区2型糖尿病患者 DN 相关，MTHFR T 等位基因可能是该地区 DN 的易感基因。%Objective To study the relationship between the C677T polymorphisms of N5,N10-methylenetetrahydrofolate re-ductase(MTHFR)gene and type 2 diabetic nephropathy(T2DN).Methods By using PCR-RFLP method,the C677T polymor-phisms of MTHFR was analyzed in 163 cases of type 2 diabetes mellitus(T2DM),which included diabetic nephropathy(DN group, n=82)and diabetes without complications(DM group,n=81),and 77 cases of healthy people as the control group(CON).Plasma total Hcy levels were also measured for all the subjects.Results The frequencies of MTHFR TT and CT homogenetic type and al-lele T(4.9%,37.8%,23.8%)in the DN group were significantly higher than those in the DM(2.5%,28.4%,16.7%)group or the CON group(0.0%,29.8%,14.9%).However,there was no significant difference in MTHFR genotype and allele frequency be-tween the DM group and the CON group.Moreover,plasma Hcy levels were markedly higher in the patients with allele TT and CT genotype than those in the patients with CC genotype,the difference showing statistical significance (P <0.01).The univariate lo-gistic regression analysis showed that the C677T polymorphism of MTHFR gene was closely associated with the development of DN.The odds ratio was 1 .660 and the 95% confidence interval was 1.038 and 2.655 respectively.Conclusion The C677T polymor-phisms of MTHFR gene is associated with T2DN in Southeast Guangxi and the allele T might be the susceptibility gene for DN.
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