目的 探讨亚甲基四氢叶酸还原酶(MTHFR)G1793A基因多态性与浙江汉族人群溃疡性结肠炎(UC)的关系.方法 选择2004年3月-2010年5月收治的UC患者209例及同期健康体检者434例(正常对照),采用PCR-RELP方法检测MTHFRG1793A等位基因和基因型频率的分布.结果 UC患者中,MTHFRG 1793A等位基因和突变基因型GA+AA频率均高于正常对照组(23.21％vs 15.32％,P=0.001,OR=1.670,95％CI 1.246～2.238;37.80％vs25.81％,P=0.002,OR=1.747,95％CI 1.228～2.486).进一步根据UC患者临床特征进行分层分析发现,与远端结肠炎患者相比较,1793A等位基因和突变基因型GA+ AA频率在广泛结肠炎患者中亦明显增高(25.58％vs12.36％,P=0.0006,OR=0.351,95％CI 0.220～0.559;56.09％vs25.98％,P=0.0001,OR=0.275,95％CI 0.152～0.495).结论 MTHFR G1793A突变等位基因和基因型频率在浙江汉族人群UC患者中显著增高,提示该基因突变可能增加UC的发病风险并影响UC病变部位.%Objective To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) G1793A genetic polymorphism and ulcerative colitis (UC) in the Zhejiang Han population. Methods A total of 209 patients with UC and 434 healthy collators were examined in the current study. The polymerase chain reaction-restriction fragment length polymorphism method was adopted to detect the distribution of MTHFR G1793A allelic gene and genotypic frequency. Results The frequencies of the MTHFR G1793A allelic gene and variant genotype GA+AA among UC patients were significantly higher than that in the healthy control group (23. 21% vs 15.32%, P= 0.001, OR= 1.670, 95% CI: 1.246-2.238, 37.80% us 25.81%, P=0.002, OR= 1.747, 95% CI: 1.228 to 2. 486). Furthermore, stratified analysis of the clinical characteristics of UC patients showed that the frequencies of the G1793A allelic gene and the variant genotype GA + AA increased significantly among patients with extensive colitis compared with the patients with distal colitis (25.58% vs 12. 36%, P=0.0006, OR=0.351, 95% CI: 0.220-0.559; 56.09% vs 25. 98%, P= 0.0001, OR=0. 275, 95% CI: 0.152-0. 495). Conclusions The frequencies of the allelic gene variant of MTHFR G1793A and genotype were significantly increased among patients with UC in the Zhejiang Han population, which suggests that the genetic mutation may increase the risk of UC and have an effect on the region affected by UC.
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