Spina Bifida Genetics

SNPs & Disease

Many common diseases in humans are not caused by a genetic variation within a single gene but are influenced by complex interactions among multiple genes as well as environmental and lifestyle factors. Although both environmental and lifestyle factors add tremendously to the uncertainty of developing a disease, it is currently difficult to measure and evaluate their overall effect on a disease process. Therefore, it more accurate to think about SNPs in how they influence a person’s genetic predisposition, or the potential of an individual to develop a disease based on genes and hereditary factors.

Genetic factors may also confer susceptibility or resistance to a disease and determine the severity or progression of disease. Because we do not yet know all of the factors involved in these intricate pathways, researchers have found it difficult to develop screening tests for most diseases and disorders. By studying stretches of DNA that have been found to harbor a SNP associated with a disease trait, researchers may begin to reveal relevant genes associated with a disease. Defining and understanding the role of genetic factors in disease will also allow researchers to better evaluate the role of non-genetic factors—such as behavior, diet, lifestyle, and physical activity

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