Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes

The sterol regulatory element-binding factor (SREBF)-1c is a transcription factor involved in the regulation of lipid and glucose metabolism. We have previously found evidence that a common SREBF1c single-nucleotide polymorphism (SNP), located between exons 18c and 19c, is associated with an increas...

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Bibliographic Details
Published in:Diabetologia 2006-11, Vol.49 (11), p.2642-2648
Main Authors: HARDING, A.-H, LOOS, R. J. F, LUAN, J, O'RAHILLY, S, WAREHAM, N. J, BARROSO, I
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Blood Glucose - metabolism
Body fat
Case-Control Studies
Cholesterol
Cohort analysis
Cohort Studies
Diabetes
Diabetes Mellitus, Type 2 - blood
Diabetes Mellitus, Type 2 - genetics
Diabetes. Impaired glucose tolerance
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Etiopathogenesis. Screening. Investigations. Target tissue resistance
Family medical history
Fatty acids
Female
Genes
Genotype
Glucose
Humans
Insulin resistance
Male
Medical sciences
Metabolism
Middle Aged
Musculoskeletal system
Plasma
Polymorphism
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Sterol Regulatory Element Binding Protein 1 - genetics
Sterols
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Summary:The sterol regulatory element-binding factor (SREBF)-1c is a transcription factor involved in the regulation of lipid and glucose metabolism. We have previously found evidence that a common SREBF1c single-nucleotide polymorphism (SNP), located between exons 18c and 19c, is associated with an increased risk of type 2 diabetes. The present study aimed to replicate our previously reported association in a larger case-control study and to examine an additional five SREBF1c SNPs for their association with diabetes risk and plasma glucose concentrations. We genotyped six SREBF1c SNPs in two case-control studies (n=1,938) and in a large cohort study (n=1,721) and tested for association with type 2 diabetes and with plasma glucose concentrations (fasting and 120-min post-glucose load), respectively. In the case-control studies, carriers of the minor allele of the previously reported SNP (rs11868035) had a significantly increased diabetes risk (odds ratio [OR]=1.20 [95% CI 1.04-1.38], p=0.015). Also, three other SNPs (rs2236513, rs6502618 and rs1889018), located in the 5' region, were significantly associated with diabetes risk (OR > or =1.21, p< or =0.006). Furthermore, two SNPs (rs2236513 and rs1889018) in the 5' region were weakly (p
ISSN:0012-186X
1432-0428
DOI:10.1007/s00125-006-0430-1