Johns Hopkins Asthma and Allergy Center, Baltimore, Maryland 21224, USA.
Curr Opin Allergy Clin Immunol. 2010 Oct;10(5):427-33. doi: 10.1097/ACI.0b013e32833de6ee.
Asthma and allergic diseases are common and disproportionately affect racial and ethnic minorities. Large-scale research efforts and the expense committed to multiple genomewide association studies (GWAS) have led to the identification of numerous susceptibility loci for the allergic diseases, but few successes have been reported in populations that are not of European ancestry.
Of the more than two dozen GWAS for asthma and allergic disease performed to date, very few have included racial/ethnic minorities. Lessons learned from the studies conducted so far suggest that the GWAS approach must include considerations unique to the ancestral populations represented in the sample, population stratification due to admixture, and recognition that the current coverage of common variants both in the public database and on commercially available single-nucleotide polymorphism chips is inadequate to detect true genetic associations among ethnic/racial groups.
Advancements in the GWAS technology for identifying genes relevant to asthma and allergic disease among under-represented ethnic and racial minorities who suffer most will facilitate the identification and confirmation of validated genetic risk factors that are both unique to minority groups as well as confirm risk factors that are generic to the population at large.
哮喘和过敏性疾病较为常见,且在不同种族和民族中的发病率不成比例。大规模的研究工作以及对多个全基因组关联研究(GWAS)的投入,已经确定了许多过敏性疾病的易感基因座,但在非欧洲血统人群中,报道的成功案例却很少。
迄今为止,已经进行了 20 多项针对哮喘和过敏性疾病的 GWAS,其中很少有包括少数族裔。从迄今为止进行的研究中吸取的经验教训表明,GWAS 方法必须考虑到样本中代表的祖先人群所特有的因素、由于混合导致的群体分层,以及认识到目前公共数据库和商业上可用的单核苷酸多态性芯片中常见变体的覆盖范围不足以检测到种族/民族群体之间的真正遗传关联。
在代表性不足的少数族裔中,GWAS 技术在识别与哮喘和过敏性疾病相关的基因方面取得了进展,这些少数族裔受到的影响最大,这将有助于确定和确认独特的、针对少数群体的经过验证的遗传风险因素,并确认适用于整个人群的风险因素。