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Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease and its clinical implications

机译：炎性肠病患者亚甲基四氢叶酸还原酶C677T变异的患病率增加及其临床意义

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BACKGROUND—Inflammatory bowel disease (IBD) is associated with an increased incidence of thromboembolic disease. Hyperhomocysteinaemia (hyper-tHcy), a condition associated with the C677T variant of 5,10-methylenetetrahydrofolate reductase (MTHFR), is linked with an increased incidence of thromboembolic disease. Hyper-tHcy has been reported in patients with IBD.
AIMS—To assess the prevalence of the C677T MTHFR genotype and the contribution of this genotype to hyper-tHcy in patients with IBD.
METHODS—Patients with established IBD (n=174) and healthy controls (n=273) were studied. DNA samples were genotyped for the MTHFR (C677T) mutation. Subjects were categorised as homozygous for the thermolabile variant (TT), heterozygous for wild type and variant (CT), or homozygous for the wild type (CC).
RESULTS—Plasma homocysteine concentrations were significantly higher in patients with IBD than in healthy controls. A total of 17.5% of ulcerative colitis and 16.8% of Crohn's disease patients were homozygous for the C677T variant compared with 7.3% of controls. Homozygosity (TT) for the variant was associated with higher plasma tHcy levels in patients with IBD and in healthy controls. When all subjects who were TT for the variant were excluded, median plasma tHcy was still significantly higher in IBD than controls. Plasma vitamin B12 levels were lower in patients with IBD irrespective of MTHFR genotype.
CONCLUSIONS—There is an association between the thermolabile MTHFR C677T variant and IBD. This accounts in part for the raised plasma tHcy found in patients with IBD and may contribute to the increased incidence of thromboembolic complications. All patients with IBD should receive low dose folic acid and vitamin B12 therapy to protect against the thromboembolic complications of raised tHcy.


Keywords: methylenetetrahydrofolate reductase; C677T variant; inflammatory bowel disease
机译：背景—炎性肠病（IBD）与血栓栓塞性疾病的发生率增加有关。高同型半胱氨酸血症（hyper-tHcy）与5，10-亚甲基四氢叶酸还原酶（MTHFR）的C677T变体有关，该疾病与血栓栓塞性疾病的发生率增加有关。在IBD患者中已报道了hyper-tHcy。
AIMS-评估IBD患者中C677T MTHFR基因型的普遍性以及该基因型对hyper-tHcy的贡献。
方法-患者已建立研究了IBD（n = 174）和健康对照（n = 273）。对MTHFR（C677T）突变的DNA样本进行基因分型。受试者被分为热不稳定变异体（TT）纯合体，野生型和变异变异体（CT）纯合体或野生型（CC）纯合体。
结果-IBD患者的血浆高半胱氨酸浓度明显高于在健康的对照中。 C677T变体的纯合型溃疡性结肠炎患者总数为17.5％，克罗恩病患者总数为16.8％，而对照组为7.3％。该变异体的纯合性（TT）与IBD患者和健康对照组中较高的血浆tHcy水平相关。当排除所有接受变体TT治疗的受试者时，IBD中位数血浆tHcy仍显着高于对照组。无论MTHFR基因型如何，IBD患者的血浆维生素B12水平都较低。
结论— MTHFR C677T耐热变种与IBD之间存在关联。这部分归因于IBD患者血浆tHcy升高，可能导致血栓栓塞并发症的发生率增加。所有IBD患者均应接受低剂量叶酸和维生素B12治疗，以防止血栓栓塞性tHcy升高。
C677T变体;炎症性肠病

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