Gage Suzanne H, Davey Smith George, Ware Jennifer J, Flint Jonathan, Munafò Marcus R
MRC Integrative Epidemiology Unit (IEU) at the University of Bristol, Bristol, United Kingdom.
UK Centre for Tobacco and Alcohol Studies, School of Experimental Psychology, University of Bristol, Bristol, United Kingdom.
PLoS Genet. 2016 Feb 11;12(2):e1005765. doi: 10.1371/journal.pgen.1005765. eCollection 2016 Feb.
As our understanding of genetics has improved, genome-wide association studies (GWAS) have identified numerous variants associated with lifestyle behaviours and health outcomes. However, what is sometimes overlooked is the possibility that genetic variants identified in GWAS of disease might reflect the effect of modifiable risk factors as well as direct genetic effects. We discuss this possibility with illustrative examples from tobacco and alcohol research, in which genetic variants that predict behavioural phenotypes have been seen in GWAS of diseases known to be causally related to these behaviours. This consideration has implications for the interpretation of GWAS findings.
随着我们对遗传学的理解不断加深,全基因组关联研究(GWAS)已经识别出许多与生活方式行为和健康结果相关的变异。然而,有时被忽视的是,在疾病的GWAS中识别出的基因变异可能既反映了可改变的风险因素的影响,也反映了直接的基因效应。我们通过烟草和酒精研究中的实例来讨论这种可能性,在这些研究中,在已知与这些行为有因果关系的疾病的GWAS中发现了预测行为表型的基因变异。这种考量对GWAS研究结果的解释具有重要意义。