CitationWilliams, Redford; Ashley-Koch, Allison E.; & Siegler, Ilene C. (2008). Gene x environment interactions and CVD endophenotypes: Taking the translational step to CVD prevalence and incidence. 2008 Add Health Users Conference. Bethesda, MD.
AbstractIdentifying genetic variants that increase risk of developing major diseases that have a complex etiology is made difficult by the fact that there are many pathways to the final disease endpoints, with any given genetic variant accounting for a tiny amount of the disease incidence. One way to increase power to detect gene disease associations is to evaluate effects of genes, acting via main effects or interactions with environmental exposures, on risk factors (endophenotypes) in the pathways to disease, because these endophenotypes are more proximal to the effects of the genes than the complex disease at the end of the pathway. Our research has focused on finding gene variants that affect expression of CVD endophenotypes, with the ultimate goal of showing that these same variants are also associated with CVD prevalence and incidence. We have used the Add Health sibling subset to document effects of 5HTTLPR genotype on several CVD endophenotypes, both psychological and physical. A major goal of our ongoing research will be to use the Add Health Wave IV data to show that genetic variants we have found associated with CVD endophenotypes in other samples – e.g., MAOA uVNTR more active alleles with increased waist circumference in African American females, or 5HTTLPR L allele with increased blood pressure reactivity to mental stress – are also associated with the same or analogous endophenotypes in Add Health, as well as, for example, the prevalence and incidence of type II diabetes in African American females and hypertension and coronary heart disease in the entire sample.
Reference TypeConference proceeding
Book Title2008 Add Health Users Conference
Ashley-Koch, Allison E.
Siegler, Ilene C.