Genes, Environment, and the Heart
Putting the Pieces Together
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The study of the interaction between genes and environment dates back through the work of R.A. Fisher and Lancelot Hogben in the early 20th century, to that of Charles Darwin and Alfred Russel Wallace in the mid-19th. Darwin and Wallace’s focus was, of course, evolution by natural selection rather than human disease. However, their fundamental insight was that different members of the same species, faced with a change in environment, respond in different ways and that these differences in response are heritable. In the context of human disease, we think of gene–environment interactions in terms of people with different genotypes at a particular locus responding to an environmental stimulus, such as exposure to tobacco smoke, in different ways.
See Article by Rao et al
More broadly, there is abundant evidence that practically all human disease can be seen as being due to the effect of multiple genetic variants, and in the interaction of those genetic variants with each other, and with the environment. For example, although we think of injuries as purely environmental in nature, in fact trauma is also strongly genetically determined. The Y chromosome is a major genetic risk factor for trauma at all ages after 12 months, and beyond that, genetic variants contributing to personality traits, such as impulsivity, also serve as risk factors.1 Similarly, infectious disease represents an interaction between environmental exposure (contact with a pathogen) and genetic predisposition. Host genetic factors are important determinants of whether exposure to a pathogen passes unnoticed by the individual or causes severe morbidity or even mortality.2
Conversely, it has become clear that apparently single gene disorders are nothing of the sort. Readers of Circulation: Cardiovascular Genetics …