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Type 2 diabetes: new genes, new understanding.
Inga Prokopenko1, Mark I McCarthy, Cecilia M Lindgren
1Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK.
Trends in Genetics : TIG
|October 28, 2008
Summary
Genome-wide association studies have identified 20 genetic variants linked to type 2 diabetes (T2D) susceptibility. These findings highlight the role of pancreatic beta-cell dysfunction in T2D development.
Area of Science:
- Genetics
- Endocrinology
- Metabolic Diseases
Background:
- Complex multifactorial phenotypes like type 2 diabetes (T2D) have seen significant advances in identifying contributing genetic variants.
- Genome-wide association studies (GWAS) in large cohorts are the primary driver of these discoveries.
Purpose of the Study:
- To summarize recent progress in identifying genetic variants associated with T2D susceptibility.
- To highlight the implications of these findings for understanding T2D pathogenesis.
Main Methods:
- Genome-wide association studies (GWAS) in large sample sizes.
- Analysis of common genetic variants.
- Emerging high-throughput resequencing technologies.
Main Results:
- Approximately 20 common genetic variants are now robustly implicated in T2D susceptibility.
- These variants point towards defects in pancreatic beta-cell function as a major contributor to T2D.
Conclusions:
- Recent genetic discoveries have significantly enhanced our understanding of T2D predisposition.
- Further research is needed to define causal variants, elucidate mechanisms, and enable clinical translation.
- Current evidence strongly implicates pancreatic beta-cell dysfunction in the development of type 2 diabetes.
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