The Role of Genetic in Metabolic Diseases

Genetic variations and environmental factors, including lifestyle behaviors and dietary patterns, have clear and distinguishable effects on cardiometabolic disease risk. However, the differential pattern of metabolic disease occurrence within and between populations in terms of genetic and lifestyle factors suggests that metabolic diseases are caused in part by the interaction between adverse environmental factors and the genetic risk profile of an individual. For example, in the case of common obesity, many people who are obese have tried and failed to reduce their weight through diet and exercise. Although often short term weight loss can be achieved through lifestyle modifications, the lost weight is often regained over time, suggesting the involvement of strong biological and physiological mechanisms in weight maintenance.

The past decade has witnessed developments in massively parallel, high-throughput genotyping and sequencing technologies that emerged out of the Human Genome Project which have made it possible to perform comprehensive explorations of human genetic variations and complex traits in large cohort groups. The prevailing method has been genome-wide association studies (GWAS), which have led to the identification of hundreds of common genetic variants in association with complex metabolic traits. The discovered genetic variants in interaction with environmental factors including physical activity, dietary arrtributes and other behaviors might lead us to better quantify the population-attributable risk in subgroups of the population who might later be targeted with tailored therapies. Also, studies of gene-environment interaction might help us in understanding the mechanisms and molecular pathways through which environmental factors cause disease.

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