Genome-wide association study

Sociology

Population

Evolutionary biology

Biology

Gene

Genotype

Ancestry-informative marker

Ethnic group

Genetic association

Single-nucleotide polymorphism

Asthma

Anthropology

Immunology

Genetic genealogy

Allele frequency

Genetics

Medicine

Locus (genetics)

Environmental health

Nature Communications

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.

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