臨床糖尿病ジャーナル

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Type 2 Diabetes Genetic Discovery and Risk Assessment in Various Populations

Bob Bezlik

Type 2 diabetes is a widespread metabolic disorder influenced by a combination of genetic and environmental factors. Recent genetic research has led to significant discoveries regarding the genetic basis of type 2 diabetes and its risk assessment in diverse populations. Genome-wide association studies (GWAS) have identified specific genetic variants associated with increased or decreased risk of developing the disease. These variants are located in genes involved in various biological processes, such as insulin production and glucose metabolism. Ethnic diversity plays a crucial role in the genetic predisposition to type 2 diabetes, as certain variants exhibit variable frequencies and effects across populations. Rare genetic variants are also important, particularly in monogenic forms of the disease. Polygenic risk scores (PRS) have been developed to assess an individual’s overall genetic risk, incorporating information from multiple genetic variants associated with the disease. PRS can be utilized for personalized risk assessments and early identification of individuals at high risk. The genetic discoveries and risk assessment tools have implications for prevention, treatment, and personalized management of type 2 diabetes. Understanding the genetic basis of the disease aids in identifying therapeutic targets and guiding intervention strategies. Continued research, especially with diverse populations, will contribute to a comprehensive understanding of type 2 diabetes genetics and improve its management globally.