TCN2基因多态性及血清同型半胱氨酸、维生素B12和叶酸水平与溃疡性结肠炎的相关性  

Association of transcobalamine I gene polymorphisms and serum homocysteine, vitamin B12 and folate levels with ulcerative colitis among Chinese patients

作　　者：郑淑姿 吴昊[1] 叶方鹏[3] 夏宣平[1] 夏盛隆[1] 林秀清[2] 吴小丽[2] 姜利佳 丁然 蒋益[1] Zheng Shuzi Wu Hao Ye Fangpeng Xia Xuanping Xia Shenglong Lin Xiuqing Wu Xiaoli Jiang Lijia Ding Ran Jiang Yi(Department of Gastroenterology, the Second Affiliated Hospital Department of Gastroenterology, the First Affiliated Hospital, Wenzhou Medical University, Wenzhou , Zhejiang 325000, China Department of Gastroenterology, Ruian People ~ s Hospital,Wenzhou , Zhejiang 325200, China Department of Gastroenterology, Wenzhou Central Hospital, Wenzhou , Zhejiang 325003, China Department of Gastroenterology, Wenzhou People＇s Hospital, Wenzhou, Zhejiang 325000, China)

机构地区：[1]温州医科大学附属第二医院消化内科,浙江325000 [2]温州医科大学附属第一医院消化内科,浙江325000 [3]浙江省瑞安市人民医院消化内科,325200 [4]浙江省温州市中心医院消化内科,325003 [5]浙江省温州市人民医院消化内科,325000

出　　处：《中华医学遗传学杂志》2017年第5期731-736,共6页Chinese Journal of Medical Genetics

基　　金：浙江省自然科学基金（LY14H030012,LY15H030018）;浙江省卫生厅资助项目（2012KYA132）;温州市科技局资助项目（Y20150157,Y20150029）

摘　　要：目的探讨钴转运蛋白Ⅱ（transcobalaminⅡ，TCN2）基因多态性以及血清同型半胱氨酸（homocysteine，Hcy）、维生素（vitamin，Vit）B12和叶酸水平与溃疡性结肠炎（ulcerative colitis，UC）的相关性。方法收集397例UC患者和574名正常对照者的血样，用多重高温连接酶检测反应技术检测TCN2（rs1801198，rs9606756）基因多态性，用循环酶法检测血清Hcy水平，用化学发光免疫法检测血清VitB12和叶酸水平。结果UC组与对照组比较，（rs1801198，rs9606756）的变异等位基因和基因型频率的差异均无统计学意义（均P〉O．05）。与对照组相比，中重度患者中（rsl801198）的变异等位基因（G）和基因型（CG＋GG）频率以及（rs9606756）的变异等位基因（G）和基因型（AG）频率均增高（均P〈0．05）。UC组与对照组比较，Hey平均水平增高（P〈0．01），而VitB，2和叶酸平均水平降低（均P〈0．01）。UC组和对照组中，（rsl801198）（CC）基因型携带者的Hcy平均水平均低于（CG＋GG）基因型携带者（均P〈0．05）；（rs9606756）（AA）基因型携带者的Hcy平均水平亦均低于（AG）基因型携带者（均P〈0．05）。中重度患者与轻度患者比较，Hcy平均水平增高（P〈0．01），而VitB12和叶酸平均水平降低（均P〈0．01）。UC组中高同型半胱氨酸血症（hyperhomocysteinemia，HHcy）、VitB12缺乏和叶酸缺乏的比例均高于对照组（均P〈0．01）。多元线性回归分析提示UC组中Hcy水平与VitB12、白蛋白、红细胞计数和血小板计数呈负相关（均P〈0．05），与白细胞计数和Mayo评分呈正相关（均P〈0．01）。非条件Logistic回归分析显示HHcy和叶酸缺乏是UC的独立风险因素（0R=4．173，OR=5．206，均P〈0．01）。结论TCN2（rsl801198，rs9606756）基因多态性及血清Hcy、VitB12、叶酸水平与UC相关，HHcy和叶酸缺乏是UC的独立风险因素。Objective To assess the association of transcobalamine Ⅱ （TCN2）gene polymorphisms and serum levels of homocysteine （Hcy）, vitamin Blz and folate with ulcerative colitis （UC） among Chinese patients. Methods For 397 UC patients and 574 controls, two single nucleotide polymorphisms of the TCN2 gene （rs1801198, rs9606756） were tested with an improved multiple ligase detection reaction method. Serum Hcy, vitamin Blz and folate were measured with an enzymatic cycling assay and an chemiluminescence immunoassay, respectively. Results The allelic and genotypic frequencies of rs1801198 and rs9606756 did not differ significantly between the two groups （all P〉0.05）. Compared with those of the control group, the frequencies o{ G allele and CG＋ GG genotype of rs1801198 were greater in patients with moderate and severe UC （both P〈0.05）. The same conclusion may also be drawn for the G allele and AG genotype of rs9606756 （both P〈0.05）. Compared with the controls, average Hcy level was enhanced in UC patients （P〈0.01）, whereas average vitamin B12 and folate levels were decreased in UC patients （both P〈 0. 01）. In both groups, the average level of Hcy was lower in individuals carrying CC of （rs1801198） than in those with CG-t-GG （both P〈0. 05）. A similar conclusion was also drawn for individuals with AA of rs9606756 when compared with those carrying AG（both P〈0.05）. Compared with patients with mild UC, average Hcy level was increased in those with moderate and severe UC （P〈0.01）, while average vitamin B12 and folate levels were decreased in those with moderate and severe UC （both P〈 0.01）. The prevalence of hyperhomocysteinemia（HHcy）, vitamin B12 deficiency and folate deficiency was greater in UC patients than in controls （all P〈0. 01）. In UC patients, the level of Hcy was negatively correlated with those of vitamin B12 （P〈0.01）, albumin（P〈0.01）, red blood cells（P〈0.01） and platelet （P〈0.05）, but positively correlated wi

关 键 词：溃疡性结肠炎 钴转运蛋白Ⅱ 基因多态性 同型半胱氨酸 维生素B川 叶酸 

分 类 号：R440[医药卫生—诊断学] R574.62[医药卫生—临床医学]