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在美洲的非裔混合人群中的关联研究再现了非裔人群中的哮喘风险基因座。

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.

机构信息

Department of Medicine, University of Colorado Denver, Aurora, CO, 80045, USA.

Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, 48202, USA.

出版信息

Nat Commun. 2019 Feb 20;10(1):880. doi: 10.1038/s41467-019-08469-7.

DOI:10.1038/s41467-019-08469-7
PMID:30787307
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6382865/
Abstract

Asthma is a complex disease with striking disparities across racial and ethnic groups. Despite its relatively high burden, representation of individuals of African ancestry in asthma genome-wide association studies (GWAS) has been inadequate, and true associations in these underrepresented minority groups have been inconclusive. We report the results of a genome-wide meta-analysis from the Consortium on Asthma among African Ancestry Populations (CAAPA; 7009 asthma cases, 7645 controls). We find strong evidence for association at four previously reported asthma loci whose discovery was driven largely by non-African populations, including the chromosome 17q12-q21 locus and the chr12q13 region, a novel (and not previously replicated) asthma locus recently identified by the Trans-National Asthma Genetic Consortium (TAGC). An additional seven loci reported by TAGC show marginal evidence for association in CAAPA. We also identify two novel loci (8p23 and 8q24) that may be specific to asthma risk in African ancestry populations.

摘要

哮喘是一种复杂的疾病,在不同种族和族裔群体之间存在显著差异。尽管哮喘的负担相对较高,但非洲裔个体在哮喘全基因组关联研究(GWAS)中的代表性不足,这些代表性不足的少数群体中的真正关联尚无定论。我们报告了非洲裔人群哮喘联盟(CAAPA;7009 例哮喘病例,7645 例对照)的全基因组荟萃分析结果。我们在四个先前报道的哮喘基因座发现了强烈的关联证据,这些基因座的发现主要是由非非洲人群驱动的,包括染色体 17q12-q21 基因座和 chr12q13 区域,这是一个新的(以前未复制)哮喘基因座,最近由跨民族哮喘遗传联盟(TAGC)鉴定。TAGC 报道的另外七个基因座在 CAAPA 中显示出边缘关联的证据。我们还鉴定了两个新的基因座(8p23 和 8q24),它们可能是非洲裔人群哮喘风险特有的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/359d/6382865/8b8ea1da9a77/41467_2019_8469_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/359d/6382865/204b8aa01b60/41467_2019_8469_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/359d/6382865/8b8ea1da9a77/41467_2019_8469_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/359d/6382865/204b8aa01b60/41467_2019_8469_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/359d/6382865/8b8ea1da9a77/41467_2019_8469_Fig2_HTML.jpg

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