ADAM33基因多态性与华东汉族人哮喘的易感性和严重程度相关
2011/12/26
摘要
目的:诸多遗传因素和环境因素影响着哮喘的发病。在数个不同人群中,ADAM33(解聚素和基质金属蛋白酶域33)被发现为哮喘的一个易感基因。本试验旨在研究ADAM33基因单核苷酸多态性(SNP)是否与华东汉族人群的哮喘易感性和严重程度相关。
方法:224名受试者入选,包括74名正常对照和150名哮喘患者。基于第一秒用力呼气体积预测值、症状、夜间觉醒、对短效β2受体激动剂的需求和哮喘对正常活动的影响,将哮喘患者分为严重哮喘组和非严重哮喘组。采用多聚酶链限制性片段长度多态性法对ADAM33基因的6个SNP(F+1、ST+4、S1、S2、T1和T2)进行基因分型。
结果:ADAM33 的3个SNP(F + 1, T1和T2)与研究人群中哮喘显著相关(P=0.0058~0.0067)。在严重哮喘组和非严重哮喘中,2个SNP(F + 1, T1)的等位基因频率与对照组的等位基因频率显著不同。仅严重哮喘组患者的T2 SNP等位基因频率与对照组存在显著差异(P=0.0081)。单体型分析显示,健康对照组的7575G、12433T和12462C(GTC单体型)频率显著高于哮喘患者(78.4% vs. 61.8%,P=0.0004)。
结论:ADAM33基因的多态性与华东汉族人群的哮喘易感性相关,该遗传相关性在严重哮喘患者中更为明显。
(苏楠 审校)
J Asthma. 2011 Dec;48(10):979-85. Epub 2011 Oct 31.
ADAM33 Gene Polymorphisms Associate with Asthma Susceptibility and Severity in East China Han Population.
Jie Z, Hu Z, Bai C, Jin M.
Source
Department of Respiratory Medicine, The Fifth People’s Hospital of Shanghai, Fudan University , Shanghai , PR China .
Abstract
OBJECTIVE:Multiple genetic and environmental factors impact the pathogenesis of asthma. ADAM33 (a disintegrin and metalloproteinase domain 33) represents a novel susceptibility gene for asthma in several diverse populations. The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of the ADAM33 gene associate with asthma susceptibility and severity in the Chinese Han population.
METHODS:A total of 224 subjects were enrolled, including 74 normal controls and 150 asthmatic patients. The asthmatic enrollees were further categorized into high- or low-severity groups according to the percentage of forced expiratory volume in 1 second of predicted value, symptoms, nighttime awakening, requirement for short-acting β2-agonist, and interference with normal activities. Six SNPs (F + 1, ST + 4, S1, S2, T1, and T2) in ADAM33 were genotyped using the polymerase chain restriction fragment length polymorphism method.
RESULTS:Three SNPs (F + 1, T1, and T2) of ADAM33 were found to have significant associations with asthma in the study population (p = .0058-.0067). The allele frequencies of two SNPs (F + 1, T1) in both the low- and high-severity groups were significantly different from the allele frequency in the control group. The allelic frequency of the T2 SNP was significantly different from that of the control group only in the high-severity group (p = .0081). Haplotype analysis demonstrated that the frequency of 7575G, 12433T, and 12462C (GTC haplotype) is higher in healthy controls than amongst asthma patients (78.4% vs. 61.8%, p = .0004).
CONCLUSIONS:Polymorphisms of the ADAM33 gene associate with asthma susceptibility in the east China Han population, and the genetic association is stronger in high-severity asthmatics.
J Asthma. 2011 Dec;48(10):979-85. Epub 2011 Oct 31.
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