Original Article

Immunogenetics

pp 1-10

First online:

Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study

  • Marquitta J. WhiteAffiliated withDepartment of Medicine, University of California, San Francisco Email author  
  • , O. Risse-AdamsAffiliated withDepartment of Medicine, University of California, San FranciscoLowell Science Research Program, Lowell High School 
  • , P. GoddardAffiliated withDepartment of Medicine, University of California, San Francisco
  • , M. G. ContrerasAffiliated withDepartment of Medicine, University of California, San FranciscoSF BUILD, San Francisco State University
  • , J. AdamsAffiliated withDepartment of Medicine, University of California, San Francisco
  • , D. HuAffiliated withDepartment of Medicine, University of California, San Francisco
  • , C. EngAffiliated withDepartment of Medicine, University of California, San Francisco
  • , S. S. OhAffiliated withDepartment of Medicine, University of California, San Francisco
  • , A. DavisAffiliated withChildren’s Hospital and Research Center Oakland
  • and 6 more
    • , K. MeadeAffiliated withChildren’s Hospital and Research Center Oakland
    • , E. Brigino-BuenaventuraAffiliated withDepartment of Allergy and Immunology, Kaiser Permanente Vallejo Medical Center
    • , M. A. LeNoirAffiliated withBay Area Pediatrics
    • , K. Bibbins-DomingoAffiliated withDepartment of Medicine, University of California, San Francisco
    • , M. Pino-YanesAffiliated withResearch Unit, Hospital Universitario N.S. de CandelariaCIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III
    • , E. G. BurchardAffiliated withDepartment of Medicine, University of California, San FranciscoDepartment of Bioengineering and Therapeutic Sciences, University of California
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Abstract

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 US 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.

Keywords

Health disparities Children Asthma Genetics GWAS