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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Novel recessive locus for body mass index in childhood asthma
Sanghun Lee1, Jessica Lasky-Su2, Sungho Won3
1Department of Medical Consilience, Division of Medicine, Graduate School, Dankook University-Jukjeon Campus, Yongin, South Korea shlee92@dankook.ac.kr.
Abstract:
Most genome-wide association studies of obesity and body mass index (BMI) have so far assumed an additive mode of inheritance in their analysis, although association testing supports a recessive effect for some of the established loci, for example, rs1421085 in FTO In two whole-genome sequencing (WGS) studies of children with asthma and their parents (892 Costa Rican trios and 286 North American trios), we discovered an association between a locus (rs9292139) in LOC102724122 and BMI that reaches genome-wide significance under a recessive model in the combined analysis. As the association does not achieve significance under an additive model, our finding illustrates the benefits of the recessive model in WGS analyses.
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