Research Center for Standardization of Allergic Disease, Korea National Institute of Health, Osong 363-951, Korea.
BMB Rep. 2012 May;45(5):305-10. doi: 10.5483/bmbrep.2012.45.5.305.
Allergic diseases such as asthma, allergic rhinitis, and atopic dermatitis are heterogeneous diseases characterized by multiple symptoms and phenotypes. Recent advancements in genetic study enabled us to identify disease associated genetic factors. Numerous genome-wide association studies (GWAS) have revealed multiple associated loci for allergic diseases. However, the majority of previous studies have been conducted in populations of European ancestry. Moreover, the associations of single nucleotide polymorphisms (SNPs) with allergic diseases have not been studied amongst the large-scale general Korean population. Herein, we performed the replication study to validate the previous variants, known to be associated with allergic diseases, in the Korean population. In this study, we categorized three allergic related phenotypes, one allergy and two asthma related phenotypes, based on self-reports of physician diagnosis and their symptoms from 8,842 samples. As a result, we found nominally significant associations of 6 SNPs with at least one allergic related phenotype in the Korean population.
过敏性疾病，如哮喘、过敏性鼻炎和特应性皮炎，是具有多种症状和表型的异质性疾病。遗传研究的最新进展使我们能够确定与疾病相关的遗传因素。许多全基因组关联研究（GWAS）已经揭示了许多与过敏性疾病相关的位点。然而，之前的大多数研究都是在欧洲血统的人群中进行的。此外，单核苷酸多态性（SNPs）与过敏性疾病的关联在大规模的韩国普通人群中尚未得到研究。在此，我们进行了一项复制研究，以验证之前在韩国人群中与过敏性疾病相关的已知变异。在这项研究中，我们根据 8842 个样本中医生诊断和症状的自我报告，将三种与过敏相关的表型，一种过敏和两种哮喘相关的表型进行了分类。结果，我们发现了 6 个 SNP 与韩国人群中至少一种与过敏相关的表型存在显著关联。
