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首页> 外文期刊>Allergy >Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population
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Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population

机译：17q21哮喘易感性基因座的变异与日本人群的过敏性鼻炎有关

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Background Allergic rhinitis (AR) is a very common disorder peaking in the teenage years that is mediated by hypersensitivity responses to environmental allergens. Although it is well established that the ORMDL3 locus at chromosome 17q21 is associated with susceptibility to bronchial asthma, the genetic influences of the polymorphisms of the locus in allergic rhinitis are unclear. Objective To examine whether the polymorphisms in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population. Methods We performed linkage disequilibrium (LD) mapping of the locus using the HapMap database and conducted an association study of the locus with a total of 15 tag SNPs in two independent populations. We further evaluated correlations of genotypes with changes in expression of genes at the region in lymphoblastoid cell lines in the Japanese population and assessed the expression levels of the genes in nasal epithelium and various human tissues. Results We found a significant association between a total of five polymorphisms in the 17q21 asthma susceptibility locus, rs9303277, rs7216389, rs7224129, rs3744246, and rs4794820, and AR (minimum Pcombined = 0.00074, rs4794820). The expression level of the ORMDL3 transcript was significantly correlated with the genotype of rs12150079, rs7216389, rs3744246, and rs4794820 with P 0.01 (minimum P = 0.0058, rs7216389), and ORMDL3 mRNA was highly expressed in nasal epithelium. Conclusion Genetic variants in the 17q21 asthma susceptibility locus are significantly associated with AR in the Japanese population.
机译：背景变应性鼻炎（AR）是一种非常常见的疾病，在青少年时期达到顶峰，由对环境变应原的超敏反应介导。尽管已经确定17q21号染色体上的ORMDL3基因座与支气管哮喘的易感性有关，但该基因座多态性在变应性鼻炎中的遗传影响尚不清楚。目的探讨日本人群17q21哮喘易感基因座的多态性是否与过敏性鼻炎有关。方法我们使用HapMap数据库对基因座进行连锁不平衡（LD）定位，并对两个独立种群中的基因座与总共15个标签SNP进行了关联研究。我们进一步评估了基因型与日本人群淋巴母细胞系中该区域基因表达的相关性，并评估了基因在鼻上皮和各种人体组织中的表达水平。结果我们发现在17q21哮喘易感性基因位点rs9303277，rs7216389，rs7224129，rs3744246和rs4794820与AR的五个多态性之间存在显着相关性（最低P组合= 0.00074，rs4794820）。 ORMDL3转录本的表达水平与rs12150079，rs7216389，rs3744246和rs4794820的基因型显着相关，P <0.01（最低P = 0.0058，rs7216389），并且ORMDL3 mRNA在鼻上皮细胞中高度表达。结论在日本人群中，17q21哮喘易感性位点的遗传变异与AR显着相关。

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