Novel recessive locus for body mass index in childhood asthma.

Novel recessive locus for body mass index in childhood asthma.
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儿童哮喘中体重指数的新型隐性基因座。

DOI:
10.1136/thoraxjnl-2020-215742
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发表时间:
2021-12
期刊:
影响因子:
10
通讯作者:
Hecker J
Hecker J
中科院分区:
医学1区
文献类型:
--
作者:
Lee S;Lasky-Su J;Won S;Laurie C;Celedón JC;Lange C;Weiss S;Hecker J

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到目前为止,大多数关于肥胖和体重指数(BMI)的全基因组关联研究在分析中都假设了遗传的加性模式,尽管关联测试支持一些已建立的基因座存在隐性效应,例如FTO中的rs1421085。在对哮喘儿童及其父母(892例哥斯达黎加三胞胎和286例北美三胞胎)进行的两项全基因组测序(WGS)研究中,我们发现LOC102724122中的一个位点(rs9292139)与BMI之间存在关联,并在组合分析的隐性模型下达到全基因组意义。由于这种关联在加性模型下并不显著,我们的发现说明了隐性模型在WGS分析中的好处。
Most genome-wide association studies for 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 asthmatic children 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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