半胱氨酸白三烯受体1基因变异和哮喘的危险性
2009/05/18
关键词：哮喘易感性；半胱氨酸白三烯受体1基因；单核苷酸多态型
为了评价半胱氨酸白三烯受体1基因变异对哮喘的影响，Hong等对两个独立的样本进行研究。第一个样本包括170例哮喘患者和347例对照者，第二个样本（验证研究）包括202例哮喘患者和332例对照者。两组样本的研究对象均来自中国同一地区。初期研究采用ARRAY 技术分析了105个基因的单核苷酸多态型（SNPs）(n = 129)，验证研究中分析了119个SNPs。
研究发现3个SNPs可能与哮喘有关，分别为rs320995（半胱氨酸白三烯受体1基因）、rs1047266（肿瘤坏死因子受体超家族——膜10b基因）和rs40401（IL-3基因）。隐形遗传模型研究表明，SNP rs320995缺乏T等位基因的患者更可能罹患哮喘（3.1倍）。性别特异性研究未发现性别差异。
本研究表明，半胱氨酸白三烯受体1基因变异与哮喘的发病有关。
（韩伟 青岛市市立医院东院呼吸科 266071 摘译）
（Eur Respir J. 2009 Jan;33(1):42-48）
Eur Respir J. 2009 Jan;33(1):42-8.
Cysteinyl leukotriene receptor 1 gene variation and risk of asthma.
Hong X, Zhou H, Tsai HJ, Wang X, Liu X, Wang B, Xu X, Xu X.
Keywords: Asthma susceptibility, cysteinyl leukotriene receptor 1 gene, single nucleotide polymorphism
Although it has been recognised that genetics plays an important role in the development of asthma, important causal loci remain to be identified. The aim of the present study was to examine the association of known and novel candidate genes with asthma. Two independent samples, including 170 asthmatic cases and 347 controls in the initial sample, and 202 asthmatic cases and 332 controls in the confirmation sample, were recruited from the same region of China. Functional single nucleotide polymorphisms (SNPs; n = 129) from 105 genes were genotyped using MassARRAY technology, and 119 SNPs were used for the subsequent analysis. In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 in the tumour necrosis factor receptor superfamily, member 10b, gene and rs40401 in the interleukin-3 gene, were associated with risk of asthma. Notably, under the recessive genetic model, subjects without the thymidine allele in SNP rs320995 had a 3.1 times higher risk of asthma, which remained significant after accounting for multiple testing. This association was replicated in the confirmation sample and validated by meta-analysis. Further, sex-specific analysis was performed, but no sex difference was found. The present study provided coherent evidence that cysteinyl leukotriene receptor 1 gene variation is associated with risk of asthma.
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游泳和冷空气运动员的哮喘、气道炎症和上皮损伤
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慢性阻塞性肺疾病（COPD）患者CRHR1多态性与吸入糖皮质激素后肺功能改善之间的关系
