亚甲基四氢叶酸还原酶G1793A基因多态性及高同型半胱氨酸血症与溃疡性结肠炎的相关性  

The relationship of methylenetetrahydrofolate reductase G1793A gene polymorphism, hyperhomocysteinaemia and ulcerative colitis

作　　者：蒋益[1] 赵杰[1] 徐昌隆[2] 曹曙光[2] 林李淼[2] 雷媛[1] 黄莎[1] 王昌高[1] 夏冰[1] 

机构地区：[1]武汉大学中南医院消化内科,430071 [2]温州医学院附属二医院消化内科

出　　处：《中华内科杂志》2010年第8期675-679,共5页Chinese Journal of Internal Medicine

基　　金：湖北省肠病医学临床研究中心资助项目（2008BCC002）;温州市科技局资助项目（Y20080110）

摘　　要：目的 探讨亚甲基四氢叶酸还原酶（MTHFR）G1793A基因多态性、血浆同型半胱氨酸（Hey）、叶酸及维生素B12浓度与溃疡性结肠炎（UC）的关系.方法 在299例UC患者和764例正常对照者中,采用聚合酶链反应-限制性片段长度多态性（PCR-RELP）检测MTHFR G1793A基因多态性,循环酶法检测血浆Hey水平,微粒子免疫化学发光法检测血浆叶酸和维牛素B12浓度.结果 UC组MTHFR 1793（A）等位基因和（GA＋AA）基因型频率明显比正常对照组增高（22.24%比14.20%,P〈0.001;42.81%比26.97%,P〈0.001）;血浆Hey水平亦明显高于正常对照组[（20.67±6.42）mmol/L比（13.21±5.11）mmol/L,P〈0.001],而叶酸和维生素B12浓度明显降低[（11.37±6.34）nmol/L比（14.89±7.21）nmol/L,P〈0.001;（324.15±127.53）pmol/L比（421.54±128.45）pmol/L,P〈0.001].另外,UC组中高同型半胱氨酸血症（Hhcy）（Hcy≥15 mmol/L）及叶酸缺乏（叶酸≤7 nmol/L）的发生率显著高于正常对照组（32.44%比25.78%,P=0.029;23.41%比17.01%,P=0.016）.结论 MTHFR G1793A基因多态性、Hhcy、叶酸缺乏及低维生素B12水平与湖北汉族UC明显相关.Hcy代谢酶基因可能涉及UC的发病机制.JIANG Yi ZHAO Jie（Department of Gastroenterology, Wuhan University Zhongnan Hospital, Wuhan 430071 ,China） XU Chang-long CAO Shu-guang LIN Li-miao LEI Yuan（Department of Gastroenterology, Wuhan University Zhongnan Hospital, Wuhan 430071 ,China） HUANG Sha（Department of Gastroenterology, Wuhan University Zhongnan Hospital, Wuhan 430071 ,China） WANG Chang-gao（Department of Gastroenterology, Wuhan University Objectives The present study aimed to investigate the associations between genetic polymorphism of methylenetetrahydrofolate reductase （ MTHFR） G1793A, plasma homocysteine （Hcy） levels, vitamin status and ulcerative colitis （ UC） in a cohort of patients in Hubei Han nationality. Methods Two hundred and ninty-nine UC patients and 764 age- and sex-matched healthy controls were recruited in this study. Polymorphism of MTHFR G1793A was examined using a PCR-RELP method.Plasma levels of Hcy, folate and vitamin B12 were determined by enzymatic cycling assay and corpuscle immune chemiluminescence assay, respectively.Results Both variant allele and genotype frequencies in MTHFR G1793A gene were significantly higher in the UC patients compared to the controls （22.24% vs 14.20% , P〈0.001 ;42.81% vs 26.97%, P 〈 0.001, respectively）.Plasma Hcy levels were increased in UC patients compared to the controls [（20.67 ±6.42）mmol/L vs （13.21 ±5.11）mmol/L, P 〈0.001] while folate and vitamin B12 concentrations were significantly decreased [（11.37±6.34） nmol/L vs （14.89±7.21） nmol/L, P 〈 0.001; （324.15±127.53 ） pmol/L vs （421.54±128.45 ） pmol/L, P 〈 0.001, respectively].Furthermore, hyperhomocysteinaemia （HHcy） and folate deficiency were also more prevalent in the UC patients （32.44% vs 25.78% , P = 0.029; 23.41% vs 17.01%, P =0.016, respectively）.Conclusions Genetic polymorphism of MTHFR G1793A Wag strongly associated with UC.HHcy,folate deficiency and low vitamin B12 concentration were common phenomena in the UC patients of Hubei Han nationality.Our

关 键 词：亚甲基四氢叶酸还原酶 结肠炎 溃疡性 高同型半胱氨酸血症 叶酸 维生素B12 多态性 单核苷酸 

分 类 号：R574.6[医药卫生—消化系统]