Zheng Shuzi, Wu Chaoqun, Yang Wei, Xia Xuanping, Lin Xiuqing, Jiang Lijia, Ding Ran, Jiang Yi
Department of Gastroenterology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Dig Dis. 2017;35(5):463-471. doi: 10.1159/000471848. Epub 2017 May 5.
The study aimed to investigate the association of Crohn's disease (CD) with transcobalamin II (TCN2) polymorphisms and serum homocysteine, folate, and vitamin B12 levels.
TCN2 (rs1801198, rs9606756) were genotyped by iMLDR in 389 CD patients and 746 controls. Furthermore, 102 CD patients and 153 controls were randomly selected for examination of serum homocysteine, folate, and vitamin B12 levels by enzymatic cycling assay and chemiluminescence immunoassay, respectively.
Mutant allele (G) and genotype (AG + GG) of (rs9606756) were higher in CD patients than in controls (both p < 0.05). So were they in ileocolonic CD patients and stricturing CD patients compared to controls (all p < 0.05). Mutant allele (G) and genotype (CG + GG) of (rs1801198) were more prevalent in stricturing CD patients than in controls (both p < 0.05). Compared to controls, average homocysteine level was enhanced in CD patients (p = 0.003), whereas average folate and vitamin B12 levels were reduced in CD patients (both p < 0.001). The prevalence of hyperhomocysteinemia, folate deficiency, and vitamin B12 deficiency was higher in CD patients than in controls (all p < 0.01). Both folate deficiency and vitamin B12 deficiency were independently related to risk of CD (both p < 0.01).
TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B12 deficiency are correlated with CD.
本研究旨在探讨克罗恩病（CD）与转钴胺素II（TCN2）基因多态性以及血清同型半胱氨酸、叶酸和维生素B12水平之间的关联。
采用iMLDR技术对389例CD患者和746例对照进行TCN2（rs1801198、rs9606756）基因分型。此外，分别通过酶循环法和化学发光免疫分析法随机选取102例CD患者和153例对照检测血清同型半胱氨酸、叶酸和维生素B12水平。
CD患者中（rs9606756）的突变等位基因（G）和基因型（AG + GG）高于对照组（均p < 0.05）。与对照组相比，回结肠型CD患者和狭窄型CD患者中的情况也是如此（均p < 0.05）。（rs1801198）的突变等位基因（G）和基因型（CG + GG）在狭窄型CD患者中比对照组更常见（均p < 0.05）。与对照组相比，CD患者的平均同型半胱氨酸水平升高（p = 0.003），而平均叶酸和维生素B12水平降低（均p < 0.001）。CD患者中高同型半胱氨酸血症、叶酸缺乏和维生素B12缺乏的患病率高于对照组（均p < 0.01）。叶酸缺乏和维生素B12缺乏均与CD风险独立相关（均p < 0.01）。
TCN2（rs1801198、rs9606756）基因多态性以及叶酸缺乏和维生素B12缺乏与CD相关。
