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首页> 外文期刊>Allergy >Variability of the L-Histidine decarboxylase gene in allergic rhinitis.
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Variability of the L-Histidine decarboxylase gene in allergic rhinitis.

机译：L-组氨酸脱羧酶基因在变应性鼻炎中的变异性。

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BACKGROUND: Nonsynonymous polymorphisms in genes coding for histamine-metabolizing enzymes, diamine oxidase and histamine N-methyltransferase are related to the risk of developing allergic diseases. The role of polymorphisms in the histidine decarboxylase gene remains unexplored. The objective of this study is to identify novel polymorphisms in the human histidine decarboxylase gene and to analyse the clinical association of nonsynonymous polymorphisms with rhinitis. METHODS: We performed a single-strand conformational polymorphism analysis of the histidine decarboxylase gene sequence. The presence of two nonsynonymous polymorphisms Thr31Met (rs17740607) and Glu644Asp (rs2073440) was analysed in 442 unrelated patients with allergic rhinitis, 233 of whom also had asthma, and in 486 healthy subjects. RESULTS: We observed three novel polymorphisms designated as ss50402829, ss50402830 and ss50402831-(rs17740607) with allele frequencies = 0.005, 0.208 and 0.073, respectively. Statistically significant differences were observed for the histidine decarboxylase Glu644Asp (rs2073440) polymorphism, with OR (95% CI) values for homozygous carriers of the Glu644 allele equal to 3.12 (1.75-5.56, P < 0.00005) for all patients, 3.38 (1.54-7.44, P = 0.002) for patients with rhinitis alone, and 2.92 (1.43-5.95), P = 0.003 for patients with rhinitis + asthma, when compared with healthy controls. A significant Glu644 gene-dose effect was observed for overall patients (P = 0.0001), for patients with rhinitis alone (P = 0.005) and for patients with rhinitis + asthma (P = 0.010). CONCLUSIONS: The HDC allele Glu644 in homozygosity increases the risk of developing rhinitis in the studied population. This adds to increasing evidence supporting a prominent role of genetic variations related to histamine homeostasis in the risk to develop allergic diseases.
机译：背景：编码组胺代谢酶，二胺氧化酶和组胺N-甲基转移酶的基因中的非同义多态性与发生过敏性疾病的风险有关。在组氨酸脱羧酶基因中多态性的作用尚待探索。这项研究的目的是确定人类组氨酸脱羧酶基因中的新型多态性，并分析非同义多态性与鼻炎的临床关联。方法：我们对组氨酸脱羧酶基因序列进行了单链构象多态性分析。在442名无关的过敏性鼻炎患者（其中233名也患有哮喘）和486名健康受试者中分析了两个非同义多态性Thr31Met（rs17740607）和Glu644Asp（rs2073440）的存在。结果：我们观察到三个新的多态性，分别命名为ss50402829，ss50402830和ss50402831-（rs17740607），其等位基因频率分别为0.005、0.208和0.073。在组氨酸脱羧酶Glu644Asp（rs2073440）多态性上观察到统计学上的显着差异，对于所有患者，Glu644等位基因纯合子携带者的OR（95％CI）值等于3.12（1.75-5.56，P <0.00005）。与健康对照组相比，仅鼻炎患者为7.44，P = 0.002），鼻炎+哮喘患者为2.92（1.43-5.95），P = 0.003。对于全部患者（P = 0.0001），仅鼻炎患者（P = 0.005）以及鼻炎+哮喘患者（P = 0.010），观察到显着的Glu644基因剂量效应。结论：纯合子中的HDC等位基因Glu644增加了所研究人群发生鼻炎的风险。这增加了越来越多的证据支持与组胺体内稳态有关的遗传变异在发生过敏性疾病的风险中的显著作用。

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