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BMC Med Genet. 2010 Aug 10;11:122. doi: 10.1186/1471-2350-11-122.

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

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1
Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA.

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.

PMID:
20698975
PMCID:
PMC2927535
DOI:
10.1186/1471-2350-11-122
[Indexed for MEDLINE]
Free PMC Article
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