Outside, Inside, Inside, Out: Different Genes Contribute to Cardioembolic Stroke in Indian Populations

It is the goal of genetic researchers to discover new genetic loci associated with specific phenotypes that influence systems biology affecting specific phenotypes of disease. The working hypothesis is that “outside” expression of phenotypes such as stroke are affected by the “inside” genetic variation that influence the biology and biochemistry of humans. In the case of stroke, these genetic associations often aid in the prediction and causes of stroke. However, the true scientific value of stroke genome-wide association studies (GWAS) is the identification of new biological pathways affecting the penetrance of stroke phenotypes. In this context, genes are not merely purveyors of risk but act as tools for identifying key biological mechanisms that offer new solutions such as drug targets and nonpharmaceutical clinical approaches. There are an estimated 30,000 genes in the human genome. Each of these influence subtle and complex molecular mechanisms. One gene in the context of 1 environment, or gene ecology, can have a very different effect in the context of another clinical environment. By studying ethnically distinct populations in Hardy-Weinberg equilibrium within their environments, we can see how stroke is influenced by different genes in different environments.

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