Relationship between the 17q21 locus and adult asthma in a Czech population
Relationship between the 17q21 locus and adult asthma in a Czech population
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DOI：
10.1016/j.humimm.2011.07.309
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发表时间：
2011-10-01
期刊：
影响因子：
2.7
通讯作者：
Holla, Lydie Izakovicova
中科院分区：
文献类型：
--
作者：
Hrdlickova, Barbara;Holla, Lydie Izakovicova
几项全基因组关联研究表明，儿童哮喘与17q12染色体区域之间存在显著联系。我们选择了ORMDL3基因(17q12)中的标签单核苷酸多态(SNPs)来研究在捷克高加索成人人群中与成人过敏性哮喘和哮喘/特应性特征相关的基因变异。我们进行了一项病例对照关联研究，包括668名无关受试者(337名哮喘受试者和331名对照受试者)。选择4个SNP(rs17608925、rs12603332、rs8076131和rs3169572)，采用TaqMan SNP基因分型方法进行基因分型。单基因座分析仅显示rs3169572变异与哮喘之间存在边缘关联(p=0.030，p(Corr)>；0.05)。然而，我们发现了7种不同的单倍型，其中TTAA单倍型与哮喘有轻微关联(p=0.045，p(Corr)>0.05)，TCAg单倍型与男性哮喘显著相关(p=0.009，p(Corr)<0.05，优势比=1.48，95%可信区间=1.10-2.00)。此外，还建立了ORMDL3基因与总免疫球蛋白水平(p=0.007，p(Corr)&t；0.05)和花粉过敏(p=0.007，p(Corr)<；0.05)之间的关系。但未发现ORMDL3单核苷酸多态与肺功能相关(p>；0.05)。这些发现表明，17q21区域的遗传变异可能也是成人哮喘的危险因素之一，特别是在男性个体中。(C)2011年美国组织相容性和免疫遗传学学会。爱思唯尔公司出版，版权所有。
Several whole-genome association studies have shown a significant link between childhood asthma and the 17q12 chromosome region. We selected tagging single nucleotide polymorphisms (SNPs) in the ORMDL3 gene (17q12) to investigate gene variability in relation to adult allergic asthma and asthma/atopy traits in a Czech Caucasian population of adults. We conducted a case-control association study comprising 668 unrelated subjects (337 asthmatic and 331 control subjects). Four selected SNP; (rs17608925, rs12603332, rs8076131, and rs3169572) were genotyped using the TaqMan SNP Genotyping Assays. The single locus analysis showed only a borderline association between rs3169572 variant and asthma (p = 0.030, p(corr) > 0.05). However, seven different haplotypes were identified; among them, the TTAA haplotype was marginally associated with asthma (p = 0.045, p(corr) > 0.05) and TCAG haplotype was significantly associated with asthma in males (p = 0.009, p(corr) < 0.05, odds ratio = 1.48, 95% confidence interval = 1.10-2.00). In addition, associations between the ORMDL3 genotypes and the total IgE level (p = 0.05, p(corr) > 0.05) and hypersensitivity to the pollen (p = 0.007, p(corr) < 0.05) were established. However, no relationship between ORMDL3 SNPs and the pulmonary functions was found (p > 0.05). These findings suggest that the genetic variability in the 17q21 region may be one of the risk factors also for adult asthma, especially in male individuals. (C) 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.