Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study.
Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study.
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DOI：
10.1007/s00251-016-0914-1
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发表时间：
2016-07
期刊：
影响因子：
3.2
通讯作者：
Burchard EG
中科院分区：
文献类型：
--
作者：
White MJ;Risse-Adams O;Goddard P;Contreras MG;Adams J;Hu D;Eng C;Oh SS;Davis A;Meade K;Brigino-Buenaventura E;LeNoir MA;Bibbins-Domingo K;Pino-Yanes M;Burchard EG
哮喘是一种呼吸道炎症性疾病，是全世界儿童最常见的慢性疾病。在美国儿童中，哮喘患病率、发病率和死亡率存在显著的种族/民族差异。这一趋势反映在肥胖症中，肥胖症可能与哮喘有着共同的遗传和环境风险因素。大多数哮喘生物医学研究是在欧洲体面的人群中进行的。我们试图确定非裔美国儿童哮喘的遗传危险因素。我们还评估了欧洲和亚洲人群中与哮喘相关的遗传变异对非裔美国儿童的普遍性。我们的研究人群包括1227例（812例哮喘病例，415例对照）具有全基因组单核苷酸多态性（SNP）数据的非裔美国儿童。Logistic回归分析用于确定SNP基因型与哮喘状态之间的关系。我们在PTCHD 3基因中发现了一种新的变异，它与哮喘显著相关（rs660498，p = 2.2 ×10−7），与肥胖状态无关。以前报道的在欧洲人群中发现的哮喘遗传相关性在非洲裔美国人中复制了大约5%。我们在非裔美国儿童中发现了与哮喘相关的新变异，加上我们无法复制在欧洲美国人中报告的大多数发现，强调了在哮喘生物医学研究中包括不同人群的必要性。
Asthma, an inflammatory disorder of the airways, is the most common chronic disease of children worldwide. There are significant racial/ethnic disparities in asthma prevalence, morbidity and mortality among U.S. children. This trend is mirrored in obesity, which may share genetic and environmental risk factors with asthma. The majority of asthma biomedical research has been performed in populations of European decent. We sought to identify genetic risk factors for asthma in African American children. We also assessed the generalizability of genetic variants associated with asthma in European and Asian populations to African American children. Our study population consisted of 1227 (812 asthma cases, 415 controls) African American children with genome-wide single nucleotide polymorphism (SNP) data. Logistic regression was used to identify associations between SNP genotype and asthma status. We identified a novel variant in the PTCHD3 gene that is significantly associated with asthma (rs660498, p = 2.2 ×10−7) independent of obesity status. Approximately 5% of previously reported asthma genetic associations identified in European populations replicated in African Americans. Our identification of novel variants associated with asthma in African American children, coupled with our inability to replicate the majority of findings reported in European Americans, underscores the necessity for including diverse populations in biomedical studies of asthma.