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Genome-wide association studies in type 2 diabetes
Mark I McCarthy1, Eleftheria Zeggini
1Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK. mark.mccarthy@drl.ox.ac.uk
Current Diabetes Reports
|March 28, 2009
Summary
Genome-wide association scans have identified nearly 20 type 2 diabetes (T2D) genetic loci, revealing insights into beta-cell function. Further research may uncover additional loci for improved disease risk prediction.
Area of Science:
- Genetics
- Metabolic Diseases
- Molecular Biology
Background:
- Type 2 diabetes (T2D) genetics research historically identified limited susceptibility loci.
- Recent advancements have significantly expanded the understanding of T2D genetic underpinnings.
Purpose of the Study:
- To summarize the impact of genome-wide association (GWA) scans on identifying T2D genetic loci.
- To highlight the insights gained into T2D pathogenesis, particularly concerning beta-cell function.
- To discuss the limitations and future directions in T2D genetic research.
Main Methods:
- Review of findings from genome-wide association (GWA) scans in type 2 diabetes (T2D) research.
- Analysis of identified T2D susceptibility loci and their implications for disease pathogenesis.
- Consideration of ongoing research into copy number variation and low-frequency polymorphisms.
Main Results:
- GWA scans have identified approximately 20 robustly replicating T2D susceptibility loci.
- These loci primarily implicate disorders of beta-cell development and function in T2D etiology.
- Associated variants are common with modest effects, limiting current prognostic utility.
Conclusions:
- Genome-wide association scans have revolutionized the identification of type 2 diabetes genetic loci.
- Current findings emphasize the critical role of beta-cell dysfunction in T2D pathogenesis.
- Future studies on copy number variation and rare variants may yield loci with greater predictive power for T2D risk.
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GWAS does not require the identification of the target gene involved in...
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