期刊
THORAX
卷 76, 期 12, 页码 1227-1230出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/thoraxjnl-2020-215742
关键词
paediatric asthma; asthma genetics
资金
- National Research Foundation of Korea (NRF) - Ministry of Education [NRF-2020R1F1A01072033]
- Ministry of Trade, Industry and Energy (MOTIE, Korea) [20000134]
- Cure Alzheimer's Fund
- National Human Genome Research Institute [R01HG008976, 2U01HG008685]
- National Heart, Lung, and Blood Institute [P01HL132825, U01HL089856, U01HL089897, P01HL120839]
- Korea Evaluation Institute of Industrial Technology (KEIT) [20000134] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
In genome-wide association studies of obesity and BMI, a locus (rs9292139) in LOC102724122 was found to be associated with BMI under a recessive model, highlighting the benefits of the recessive model in whole-genome sequencing analyses. This discovery emphasizes the importance of considering different genetic inheritance models in genetic studies of complex traits like obesity.
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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