title: Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study.
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.
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA. marquitta.white@ucsf.edu.
authors.forename: Marquitta J
authors.initials: MJ
authors.lastname: White
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.|Lowell Science Research Program, Lowell High School, San Francisco, CA, USA.
authors.forename: O
authors.initials: O
authors.lastname: Risse-Adams
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.
authors.forename: P
authors.initials: P
authors.lastname: Goddard
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.|SF BUILD, San Francisco State University, San Francisco, CA, USA.
authors.forename: M G
authors.initials: MG
authors.lastname: Contreras
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.
authors.forename: J
authors.initials: J
authors.lastname: Adams
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.
authors.forename: D
authors.initials: D
authors.lastname: Hu
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.
authors.forename: C
authors.initials: C
authors.lastname: Eng
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.
authors.forename: S S
authors.initials: SS
authors.lastname: Oh
authors.affiliation: Children's Hospital and Research Center Oakland, Oakland, CA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Davis
authors.affiliation: Children's Hospital and Research Center Oakland, Oakland, CA, USA.
authors.forename: K
authors.initials: K
authors.lastname: Meade
authors.affiliation: Department of Allergy and Immunology, Kaiser Permanente Vallejo Medical Center, Vallejo, CA, USA.
authors.forename: E
authors.initials: E
authors.lastname: Brigino-Buenaventura
authors.affiliation: Bay Area Pediatrics, Oakland, CA, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: LeNoir
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.
authors.forename: K
authors.initials: K
authors.lastname: Bibbins-Domingo
authors.affiliation: Research Unit, Hospital Universitario N.S. de Candelaria, Tenerife, Spain.|CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Pino-Yanes
authors.affiliation: Department of Medicine, University of California, San Francisco, UCSF Box 2911, San Francisco, CA, 94143-2911, USA.|Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.
authors.forename: E G
authors.initials: EG
authors.lastname: Burchard
mesh_terms: D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics*; D001249:Asthma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D057285:Precision Medicine; D012307:Risk Factors; D012495:San Francisco / Q000453:epidemiology; D044465:White People / Q000235:genetics; D055815:Young Adult
keywords: Asthma; Children; GWAS; Genetics; Health disparities