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|Title:||Asthma-susceptibility variants identified using probands in case-control and family-based analyses|
|Authors:||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|
|Description:||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.|
|Standard no:||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.|
|Appears in Collections:||HSPH Scholarly Articles|
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