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Genome-wide association studies and type 2 diabetes
Eleanor Wheeler1, Inês Barroso
1Wellcome Trust Sanger Institute, Cambridge, UK.
Briefings in Functional Genomics
|March 26, 2011
Summary
Genome-wide association studies have identified 44 genetic loci for type 2 diabetes (T2D), significantly advancing our understanding of its genetic basis. However, these discoveries explain only a small fraction of T2D heritability, necessitating further research.
Area of Science:
- Genetics
- Metabolic Diseases
- Epidemiology
Background:
- Traditional genetic studies for type 2 diabetes (T2D) were limited in identifying susceptibility loci for common forms of the disease.
- Previous methods identified only two robust T2D susceptibility loci: PPARG and KCNJ11.
Purpose of the Study:
- To review the contributions of genome-wide association studies (GWAS) to understanding the genetic architecture of T2D.
- To discuss future directions for uncovering the remaining heritability of T2D.
Main Methods:
- Large-scale genome-wide association studies (GWAS) involving thousands of individuals.
- International collaborative meta-analyses of GWAS data.
- Analysis of quantitative glycemic phenotypes to identify disease-associated loci.
Main Results:
- GWAS and meta-analyses have identified 44 independent loci associated with T2D susceptibility.
- Six additional loci were identified through the analysis of quantitative glycemic traits.
- These identified loci collectively explain approximately 10% of the familial clustering of T2D in European populations.
Conclusions:
- Genome-wide association studies have revolutionized the identification of T2D genetic determinants.
- Despite significant progress, a substantial portion of T2D heritability remains unexplained.
- Further research is crucial to identify additional genetic factors contributing to T2D risk and understand disease mechanisms.
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