CCAAT/enhancer binding protein alpha, beta and delta gene variants: associations with obesity related phenotypes in the Leeds Family Study

To identify novel polymorphisms in the genes encoding the transcription factors CCAAT/enhancer binding protein alpha, beta and delta ( CEBPA, CEBPB, CEBPD) and investigate associations between polymorphisms and obesity-related phenotypes. Denaturing high-performance liquid chromatography (HPLC) was...

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Bibliographic Details
Published in:	Diabetes & vascular disease research Vol. 7; no. 3; p. 195
Main Authors:	Bennett, Claire E, Nsengimana, Jérémie, Bostock, Jacqueline A, Cymbalista, Charlotte, Futers, T Simon, Knight, Bernice L, McCormack, Lynn J, Prasad, Usha K, Riches, Kirsten, Rolton, Daniel, Scarrott, Thomas, Barrett, Jennifer H, Carter, Angela M
Format:	Journal Article
Language:	English
Published:	England 01-07-2010
Subjects:	Adiponectin - blood CCAAT-Enhancer-Binding Protein-beta - genetics CCAAT-Enhancer-Binding Protein-delta - genetics CCAAT-Enhancer-Binding Proteins - genetics Chromatography, High Pressure Liquid England - epidemiology European Continental Ancestry Group - genetics Genetic Predisposition to Disease Haplotypes Humans Leptin - blood Linear Models Linkage Disequilibrium Obesity - blood Obesity - ethnology Obesity - genetics Obesity - physiopathology Pedigree Phenotype Polymerase Chain Reaction Polymorphism, Single Nucleotide Risk Assessment Risk Factors Waist-Hip Ratio England
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Summary:	To identify novel polymorphisms in the genes encoding the transcription factors CCAAT/enhancer binding protein alpha, beta and delta ( CEBPA, CEBPB, CEBPD) and investigate associations between polymorphisms and obesity-related phenotypes. Denaturing high-performance liquid chromatography (HPLC) was used to screen for novel gene variants and polymorphisms were genotyped in stored DNA from participants of the Leeds Family Study (537 subjects from 89 families). Genotype and haplotype analyses were carried out in STATA and PBAT, respectively. Twenty-five polymorphisms were identified; 11 in CEBPA, 12 in CEBPB and 2 in CEBPD. Several allelic variants were associated at a nominal 5% level with waist-to-hip ratio (-919G>A in CEBPA, -412G>T and 646C>T in CEBPB), leptin (1558G>A in CEBPA, -1051A>G and 1383T>- in CEBPB) and adiponectin (1382G>T and 1903G>T in CEBPB). Effects of CEBPA and CEBPB allelic variants were independent, but variants within each gene were in linkage disequilibrium. Several associations were observed between other obesity-related traits and allelic variants in CEBPA and CEBPB, but not CEBPD. These findings suggest that common allelic variants in CEBPA and CEBPB could influence abdominal obesity and related metabolic abnormalities associated with type 2 diabetes and cardiovascular disease in healthy White Northern European families, although results require independent confirmation.
ISSN:	1752-8984
DOI:	10.1177/1479164110366274