Abstract/Session Information for Program Number 417T
Session Information
Session Title: Complex Traits: Theory and Methods   Session Type: Poster
Session Location: Exhibit Hall, Level 2, Convention Center   Session Time: Thu 7:00AM-4:30PM
Abstract Information
Program Number: 417T  Presentation Time: Thu, Oct 13, 2011, 2:00PM-3:00PM
Abstract Content
Genetics of Allergy and Related Phenotypes in Participant Driven and Cross Sectional Cohorts. D. A. Hinds1, G. McMahon2, A. K. Kiefer1, C. B. Do1, N. Eriksson1, M. Curran3, M. Loza3, D. Talantov3, N. J. Timpson2, D. M. Evans2, B. StPourcain4, S. M. Ring4, K. C. Nadeau5, D. Miralles3, G. Davey-Smith2, J. Y. Tung1 1) 23andMe, Inc., Mountain View, CA, USA; 2) MRC CAiTE Centre/School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom; 3) Pharmaceutical R&D, Johnson & Johnson, San Diego, CA, USA; 4) School of Social and Community Medicine, Oakfield House, Oakfield Grove, Bristol, United Kingdom; 5) Division of Allergy and Clinical Immunology, Department of Pediatrics, Stanford University, Stanford, CA, USA.

   We have collected survey information from the 23andMe participant cohort covering a range of immune hypersensitivity phenotypes including allergy, asthma, and eczema. We describe results of genome-wide association analyses of these traits, representing a combined total of nearly 16,000 cases. We find genome-wide-significant associations (P<5E-08) for variants upstream of HLA-C with grass allergies (rs9266270: P=3.7E-09, OR=0.81) and for a non-synonymous variant in TLR1 with seasonal allergies (rs4833095: P=1.5E-09, OR=1.15), as well as suggestive associations for several additional loci with established biological roles in immune response, including CLEC16A (rs725613) and IL1R1/IL1R2 (rs11674302). In specific lookup analyses, the TLR1 and HLA associations specific to grass are corroborated in a GWAS of allergy skin prick response tests from the Avon Longitudinal Study of Parents and Children (ALSPAC), with the TLR1 finding reaching genome-wide significance for allergy to mixed grasses (P=9E-09, OR=1.7). The TLR1 variant has been reported to affect responsiveness to bacterial antigens, and the CLEC16A variant has been previously associated with type 1 diabetes and multiple sclerosis. We also replicate many known associations with asthma, including IL18R1, HLA-DQB1, IL33, SMAD3, GSDMB, GSDMA, and IL2RB, with effect sizes consistent with the original reports. Our results further support the existence of a shared genetic etiology for these conditions, as well as distinct patterns of association across phenotypes. Our findings also demonstrate that self report is an effective method for collecting phenotypic information for genetic analysis of allergy related phenotypes.

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