Asthma-susceptibility variants identified using probands in case-control and family-based analyses

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Asthma-susceptibility variants identified using probands in case-control and family-based analyses

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Title: Asthma-susceptibility variants identified using probands in case-control and family-based analyses
Author: Murphy, Amy J; Soto-Quiros, Manuel E; Avila, Lydiana; Celedón, Juan C; O'Connor, George T; Himes, Blanca Elena; Su, Jessica Ann Lasky; Wu, Ann Chen; Wilk, Jemma B; Hunninghake, Gary Matthew; Klanderman, Barbara Jordan; Lazarus, Ross; Lange, Christoph; Raby, Benjamin Alexander; Silverman, Edwin Kepner; Weiss, Scott Tillman

Note: Order does not necessarily reflect citation order of authors.

Citation: Himes, Blanca E., Jessica Lasky-Su, Ann C. Wu, Jemma B. Wilk, Gary M. Hunninghake, Barbara Klanderman, Amy J. Murphy, et al. 2010. Asthma-susceptibility variants identified using probands in case-control and family-based analyses. BMC Medical Genetics 11: 122.
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Abstract: Background: Asthma is a chronic respiratory disease whose genetic basis has been explored for over two decades, most recently via genome-wide association studies. We sought to find asthma-susceptibility variants by using probands from a single population in both family-based and case-control association designs. Methods: We used probands from the Childhood Asthma Management Program (CAMP) in two primary genome-wide association study designs: (1) probands were combined with publicly available population controls in a case-control design, and (2) probands and their parents were used in a family-based design. We followed a two-stage replication process utilizing three independent populations to validate our primary findings. Results: We found that single nucleotide polymorphisms with similar case-control and family-based association results were more likely to replicate in the independent populations, than those with the smallest p-values in either the case-control or family-based design alone. The single nucleotide polymorphism that showed the strongest evidence for association to asthma was rs17572584, which replicated in 2/3 independent populations with an overall p-value among replication populations of 3.5E-05. This variant is near a gene that encodes an enzyme that has been implicated to act coordinately with modulators of Th2 cell differentiation and is expressed in human lung. Conclusions: Our results suggest that using probands from family-based studies in case-control designs, and combining results of both family-based and case-control approaches, may be a way to augment our ability to find SNPs associated with asthma and other complex diseases.
Published Version: doi:10.1186/1471-2350-11-122
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927535/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:4889501

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