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首页> 外文期刊>World Journal of Gastroenterology >Severity of ulcerative colitis is associated with a polymorphism at diamine oxidase gene but not at histamine N-methyltransferase gene.
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Severity of ulcerative colitis is associated with a polymorphism at diamine oxidase gene but not at histamine N-methyltransferase gene.

机译：溃疡性结肠炎的严重程度与二胺氧化酶基因的多态性有关，而与组胺N-甲基转移酶基因的多态性无关。

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摘要

AIM: To analyse the role of two common polymorphisms in genes coding for histamine metabolising enzymes as it relates to the risk to develop ulcerative colitis (UC) and the clinical course of these patients. METHODS: A cohort of 229 unrelated patients with UC recruited from a single centre and 261 healthy volunteers were analysed for the presence of Thr105Ile and His645Asp amino acid substitutions at histamine N-methyltransferase (HNMT) and diamine oxidase (ABP1) enzymes, respectively, by amplification-restriction procedures. All patients were phenotyped and followed up for at least 2 years (mean time 11 years). RESULTS: There were no significant differences in the distribution of ABP1 alleles between ulcerative colitis patients and healthy individuals [OR (95% CI) for variant alleles=1.22 (0.91-1.61)]. However, mutated ABP1 alleles were present with higher frequency among the 58 patients that required immunosuppressive drugs [OR (95 % CI) for carriers of mutated alleles 2.41 (1.21-4.83; P=0.006)], with a significant gene-dose effect (P=0.0038). In agreement with the predominant role of ABP1 versus HNMT on local histamine metabolism in human bowel, the frequencies for carriers of HNMT genotypes or mutated alleles were similar among patients, regardless clinical evolution, and control individuals. CONCLUSION: The His645Asp polymorphism of the histamine metabolising enzyme ABP1 is related to severity of ulcerative colitis.
机译：目的：分析两种常见的多态性在组胺代谢酶编码基因中的作用，因为这与发生溃疡性结肠炎（UC）的风险以及这些患者的临床病程有关。方法：分析了从一个单一中心招募的229名无亲缘性UC患者和261名健康志愿者的队列，分别通过组胺N-甲基转移酶（HNMT）和二胺氧化酶（ABP1）酶检测Thr105Ile和His645Asp氨基酸替代的存在。扩增限制程序。对所有患者进行表型分析，并随访至少2年（平均时间11年）。结果：溃疡性结肠炎患者和健康个体之间的ABP1等位基因分布没有显着差异[变异等位基因OR（95％CI）= 1.22（0.91-1.61）]。但是，在58位需要免疫抑制药物的患者中，出现突变的ABP1等位基因的频率更高[突变的等位基因2.41（OR（95％CI），2.41-4（1.21-4.83; P = 0.006））的患者]，具有显着的基因剂量效应（ P ＝ 0.0038）。与ABP1和HNMT在人肠中局部组胺代谢中的主要作用相一致，患者之间的HNMT基因型或突变等位基因携带者的频率在临床发展和对照组之间均相似。结论：组胺代谢酶ABP1的His645Asp多态性与溃疡性结肠炎的严重程度有关。

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