Genetics of Allergic Disease in a Participatory Research Cohort Asthma and allergic disease are extremely common conditions with substantial public health burdens, affecting as many as one in five Americans. Discovery of genetic variants affecting allergic disease risk would contribute to our understanding of disease mechanisms as well as guide work towards improved diagnostics and treatments. Genome wide association studies (GWAS) have become well established as powerful tools for elucidating the genetic basis of disease. Recent experience with GWAS of complex traits shows that effect sizes at individual loci tend to be small, hence, the field has moved towards large, collaborative studies that combine data from multiple cohorts. In this context, the 23andMe participant cohort, with more than 100,000 genotyped individuals who have consented to participate in research, is a unique resource for studying the genetics of common disease. We have collected survey data in the 23andMe cohort covering a variety of asthma and allergy related phenotypes. More than 25,000 participants report one or more allergies, more than 8000 report an asthma diagnosis, and more than 5000 report having eczema. Our objective is to use the 23andMe cohort to investigate the genetic and environmental basis of asthma and allergic disease. In Phase I, we will fully characterize and validate our self- reported phenotypes in the 23andMe cohort, and relate them to clinical definitions used in other studies. We will perform association studies informed by that phenotypic analysis, and participate in large consortia to meta-analyze GWAS for asthma and eczema. In Phase II, we will extend these studies to include additional phenotypes, treatment response, gene-gene, and gene-environment interactions as well as to incorporate additional participants recruited from new customers of the 23andMe Personal Genome Service(R). We will incorporate results of these studies into our Personal Genome Service(R), by developing new reports and enhancing existing reports on allergy phenotypes for 23andMe customers. These reports will include personalized risk assessments for allergic disease. This work will also demonstrate the strengths and scientific validity of the 23andMe research platform and set the stage for commercial research partnerships in the allergic disease area.

Public Health Relevance

Asthma and allergic disease are extremely common conditions with substantial public health burdens, affecting as many one in five Americans. The proposed research will investigate the genetic and environmental contributions to allergic disease in the 23andMe participant cohort. Discovery of genetic variants affecting allergic disease risk would contribute to our understanding of disease mechanisms as well as guide work towards improved diagnostics and treatments.

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Small Business Innovation Research Grants (SBIR) - Phase I (R43)
Project #
1R43HL115873-01
Application #
8394670
Study Section
Special Emphasis Panel (ZRG1-IMST-J (15))
Program Officer
Gan, Weiniu
Project Start
2012-07-18
Project End
2013-12-30
Budget Start
2012-07-18
Budget End
2013-12-30
Support Year
1
Fiscal Year
2012
Total Cost
$143,253
Indirect Cost
Name
23andme, Inc.
Department
Type
DUNS #
780119710
City
Mountain View
State
CA
Country
United States
Zip Code
94043
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Ferreira, Manuel A R; Matheson, Melanie C; Tang, Clara S et al. (2014) Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. J Allergy Clin Immunol 133:1564-71
Hinds, David A; McMahon, George; Kiefer, Amy K et al. (2013) A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat Genet 45:907-11