Genetic polymorphisms and disease prevention.
Building upon the resources of traditional epidemiology, molecular epidemiology has extended our understanding that disease risk varies based not only upon acquired factors (e.g., exposures, behaviors, demographics), but also as a function of inherited factors (e.g., genetic polymorphisms). Individual susceptibility to cancer is influenced by polymorphisms in phase I enzymes (e.g., activation), phase 2 enzymes (e.g., detoxification), defects in the repair of DNA damage and other cancer susceptibility genes. Because tobacco use and nutrition represent behaviors/exposures which account for a significant number of cancer cases and deaths, these two factors are used to illustrate the relationship between genetic polymorphisms and disease prevention. Susceptibility to the health risks of smoking appears to be influenced by genetic factors that impact initiation, dependence, and nicotine metabolism. Nutrient metabolism also involves polymorphic enzyme pathways and gene-nutrient interactions may influence cancer risk. While the discipline of molecular epidemiology continues to face methodologic challenges related to the need to study large numbers of subjects, current knowledge can be applied to prevention activities. Genetic polymorphisms, and other molecular markers, can be used to develop clinical prevention studies targeted to unique subsets of persons at the highest risk of developing disease. Knowledge about the relationships between polymorphisms and disease outcomes can also be used for reinforcing healthy lifestyles, motivating positive behavior changes, helping to target medical therapy, and aiding in better focusing surveillance activities.
Mahoney
Martin C
MC
Division of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute, Buffalo, New York 14263, USA. Martin.Mahoney@RoswellPark.org
D015984:Causality; D004032:Diet; D020022:Genetic Predisposition to Disease; D015438:Health Behavior; D006801:Humans; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control*; D011110:Polymorphism, Genetic; D012907:Smoking / Q000453:epidemiology; D014029:Tobacco Use Disorder / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control