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New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function
John R B Perry1, Timothy M Frayling
1Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.
Current Opinion in Clinical Nutrition and Metabolic Care
|June 11, 2008
Summary
Genome-wide studies have identified 18 gene loci linked to type 2 diabetes risk. Most identified genetic variations impact insulin secretion, offering new insights into diabetes aetiology.
Area of Science:
- Genetics
- Endocrinology
- Metabolic Diseases
Background:
- The number of identified gene loci associated with type 2 diabetes has significantly increased.
- Genome-wide association studies (GWAS) are crucial for discovering genetic factors in complex diseases.
Purpose of the Study:
- To explain the genome-wide approach used to identify new type 2 diabetes gene loci.
- To discuss early insights into the aetiology of type 2 diabetes from these discoveries.
Main Methods:
- Genome-wide association studies (GWAS).
Main Results:
- 18 gene loci are now robustly associated with type 2 diabetes risk.
- Newly implicated genes include those involved in cell cycling (CDKN2A/2B, CDKAL1), transcription factors (TCF7L2, HHEX), and ion channels (SLC30A8).
- Most identified variants primarily affect insulin secretion, with limited impact on insulin resistance; FTO and MC4R variants influence risk via obesity.
Conclusions:
- Recent GWAS have expanded the number of type 2 diabetes-associated gene loci to 18.
- The majority of these loci are linked to impaired insulin secretion, providing key insights into disease mechanisms.
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