Zheng Shuzi, Yang Wei, Wu Chaoqun, Sun Liang, Lin Daopo, Lin Xiuqing, Jiang Lijia, Ding Ran, Jiang Yi
Department of Gastroenterology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 West Xueyuan Road, Wenzhou, Zhejiang Province, 325000, China.
Department of Gastroenterology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China.
Immunogenetics. 2017 Jul;69(7):421-428. doi: 10.1007/s00251-017-0998-2. Epub 2017 May 19.
It has been reported that abnormal elevation of homocysteine is quite prevalent in ulcerative colitis (UC) patients. We attempted to explore the relationship of UC with transcobalamin II (TCN2) gene polymorphisms and serum homocysteine, vitamin B, and folate levels in Chinese patients. TCN2 (rs1801198, rs9606756) genotypes were detected by the improved multiple ligase detection reaction (iMLDR) technique in 527 UC patients and 574 controls. Moreover, 128 UC patients and 138 controls were randomly selected for the measurement of homocysteine, vitamin B, and folate levels by enzymatic cycling assay or chemiluminescence immunoassay. For TCN2 (rs1801198), the frequency of allele G and combined frequencies of CG and GG genotypes were increased in patients with mild, moderate, and severe UC compared with those with remission UC (all P < 0.001). The average homocysteine level was elevated (10.78 ± 3.33 vs 9.91 ± 2.88 μmol/L, P = 0.024), whereas the average vitamin B and folate levels were reduced (408.66 ± 185.00 vs 457.42 ± 206.47 pg/mL, P = 0.044; 6.81 ± 3.06 vs 8.17 ± 2.58 ng/mL, P < 0.001, respectively) in UC patients than in controls. Compared with controls, the prevalence of hyperhomocysteinemia (HHcy >15.0 μmol/L), vitamin B deficiency (<203.0 pg/mL), and folate deficiency (<4.0 ng/mL) was higher in UC patients (all P < 0.05). Both HHcy and folate deficiency were shown to be independent risk factors for UC (95% CI = 1.206-12.293, P = 0.023; 95% CI = 1.910-11.129, P = 0.001, respectively). TCN2 (rs1801198, rs9606756) mutations might aggravate the severity of UC. HHcy and folate deficiency are independent risk factors for UC.
据报道，同型半胱氨酸异常升高在溃疡性结肠炎（UC）患者中相当普遍。我们试图探讨中国UC患者中钴胺素转运蛋白II（TCN2）基因多态性与血清同型半胱氨酸、维生素B和叶酸水平之间的关系。采用改进的多重连接检测反应（iMLDR）技术对527例UC患者和574例对照者检测TCN2（rs1801198、rs9606756）基因型。此外，随机选取128例UC患者和138例对照者，采用酶循环法或化学发光免疫分析法测定同型半胱氨酸、维生素B和叶酸水平。对于TCN2（rs1801198），与缓解期UC患者相比，轻度、中度和重度UC患者的等位基因G频率以及CG和GG基因型的合并频率均升高（均P<0.001）。UC患者的平均同型半胱氨酸水平升高（10.78±3.33 vs 9.91±2.88μmol/L，P=0.024），而平均维生素B和叶酸水平降低（408.66±185.00 vs 457.42±206.47 pg/mL，P=0.044；6.81±3.06 vs 8.17±2.58 ng/mL，P<0.001）。与对照组相比，UC患者高同型半胱氨酸血症（HHcy>15.0μmol/L）、维生素B缺乏（<203.0 pg/mL）和叶酸缺乏（<4.0 ng/mL）的患病率更高（均P<0.05）。HHcy和叶酸缺乏均被证明是UC的独立危险因素（95%CI=1.206-12.293，P=0.023；95%CI=1.910-11.129，P=0.001）。TCN2（rs1801198、rs9606756）突变可能会加重UC的严重程度。HHcy和叶酸缺乏是UC的独立危险因素。
