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Title: Asthma-Susceptibility Variants Identified Using Probands in Case-Control and Family-Based Analyses
Authors: Himes, Blanca E;Lasky-Su, Jessica;Wu, Ann C;Wilk, Jemma B;Hunninghake, Gary M;Klanderman, Barbara;Murphy, Amy J;Lazarus, Ross;Soto-Quiros, Manuel E;Avila, Lydiana;Celedón, Juan C;Lange, Christoph;O'Connor, George T;Raby, Benjamin A;Silverman, Edwin K;Weiss, Scott T
Year: 2010
Publisher: BioMed Central
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.
National Heart, Lung, and Blood Insitute and the National Institutes of Health (U01 HL075419, U01 HL65899, PO1 HL083069, R01 HL086601, T32 HL07437, N01-HC-25195); National Institutes of Health (R37 HL066289, HL04370, R01 HL087680; National Library of Medicine (2T15LM007092-16); Affymetrix Inc. (N02-HL-6-4278); Robert Dawson Evans Endowment of the Department of Medicine at Boston University School of Medicine and Boston Medical Center; Young Clinical Scientist Award from the Flight Attendant Medical Research Institute
Standard no: Himes, Blanca E, Jessica Lasky-Su, Ann C Wu, Jemma B Wilk, Gary M Hunninghake, Barbara Klanderman, Amy J Murphy, Ross Lazarus, Manuel E Soto-Quiros, Lydiana Avila, Juan C Celedón, Christoph Lange, George T O'Connor, Benjamin A Raby, Edwin K Silverman, Scott T Weiss. "Asthma-susceptibility variants identified using probands in case-control and family-based analyses" BMC Medical Genetics 11:122. (2010)
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