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Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes
A-H Harding1, R J F Loos, J Luan
1MRC Epidemiology Unit, Cambridge, UK.
Diabetologia
|October 5, 2006
Summary
Single-nucleotide polymorphisms (SNPs) in the SREBF1c gene are linked to an increased risk of type 2 diabetes. These genetic variations, particularly in the 5' region, also show associations with altered plasma glucose concentrations.
Area of Science:
- Genetics
- Metabolic Diseases
- Molecular Biology
Background:
- Sterol regulatory element-binding factor (SREBF)-1c regulates lipid and glucose metabolism.
- A previously identified SREBF1c single-nucleotide polymorphism (SNP) was associated with increased type 2 diabetes risk.
Purpose of the Study:
- Replicate the association between a common SREBF1c SNP and type 2 diabetes in a larger study.
- Investigate five additional SREBF1c SNPs for their association with type 2 diabetes risk and plasma glucose levels.
Main Methods:
- Genotyped six SREBF1c SNPs in two case-control studies (n=1,938) and a cohort study (n=1,721).
- Tested associations with type 2 diabetes and plasma glucose concentrations (fasting and 120-min post-load).
Main Results:
- Replicated the association of rs11868035 with increased diabetes risk (OR=1.20, p=0.015).
- Identified three additional 5 egion SNPs (rs2236513, rs6502618, rs1889018) associated with diabetes risk (OR ≥ 1.21, p ≤ 0.006).
- Observed weak associations between two 5 egion SNPs (rs2236513, rs1889018) and plasma glucose levels; rare homozygotes had higher 120-min post-load glucose.
Conclusions:
- Confirmed the association between SREBF1c SNPs and type 2 diabetes risk.
- Found evidence linking 5 egion SREBF1c SNPs to both type 2 diabetes risk and plasma glucose concentration.
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