title: CCAAT/enhancer binding protein alpha, beta and delta gene variants: associations with obesity related phenotypes in the Leeds Family Study.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Cardiovascular and Diabetes Research, Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, UK.
authors.forename: Claire E
authors.initials: CE
authors.lastname: Bennett
authors.forename: Jérémie
authors.initials: J
authors.lastname: Nsengimana
authors.forename: Jacqueline A
authors.initials: JA
authors.lastname: Bostock
authors.forename: Charlotte
authors.initials: C
authors.lastname: Cymbalista
authors.forename: T Simon
authors.initials: TS
authors.lastname: Futers
authors.forename: Bernice L
authors.initials: BL
authors.lastname: Knight
authors.forename: Lynn J
authors.initials: LJ
authors.lastname: McCormack
authors.forename: Usha K
authors.initials: UK
authors.lastname: Prasad
authors.forename: Kirsten
authors.initials: K
authors.lastname: Riches
authors.forename: Daniel
authors.initials: D
authors.lastname: Rolton
authors.forename: Thomas
authors.initials: T
authors.lastname: Scarrott
authors.forename: Jennifer H
authors.initials: JH
authors.lastname: Barrett
authors.forename: Angela M
authors.initials: AM
authors.lastname: Carter
mesh_terms: D052242:Adiponectin / Q000097:blood; D022782:CCAAT-Enhancer-Binding Protein-beta / Q000235:genetics*; D051743:CCAAT-Enhancer-Binding Protein-delta / Q000235:genetics*; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004739:England / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D020738:Leptin / Q000097:blood; D016014:Linear Models; D015810:Linkage Disequilibrium; D009765:Obesity / Q000097:blood / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D049629:Waist-Hip Ratio; D044465:White People / Q000235:genetics
chemical_list: C499918:ADIPOQ protein, human; D052242:Adiponectin; D022782:CCAAT-Enhancer-Binding Protein-beta; D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; C545012:CEBPB protein, human; C497252:CEBPD protein, human; D020738:Leptin; D051743:CCAAT-Enhancer-Binding Protein-delta