Genetic variations at the CCAAT/enhancer-binding protein delta are associated with metabolic phenotypes in the Japanese population.

ABSTRACT

BACKGROUND: Expression of CCAAT/enhancer-binding protein delta (C/EBP-delta) gene is enhanced in the early initial stage of adipocyte differentiation. This study is intended to elucidate the association between the genetic variation of C/EBP-delta and metabolic phenotypes. SUBJECTS AND METHODS: Subjects were unselected 52 males and 120 females in Japan, aged 40 to 79 years, who visited a city hygienic center for a health checkup and agreed to participation in the study after giving informed consent. The C/EBP-delta genotypes and metabolic phenotypes were determined. An association study was performed using Pearson's chi(2) tests and logistic regression analyses. RESULTS: Two SNPs in C/EBP-delta gene with minor allele frequency greater than 0.05 were detectable among seven SNPs. Genotype heterozygous for the C and T allele (877C/T) were more prevalent in subjects with dyslipidemia [plasma triglyceride (TG) > or =150 mg/dL and/or plasma high-density lipoprotein-cholesterol (HDL-C) <40 mg/dL] as well as high fasting plasma glucose (FPG; > or =110 mg/dL) than controls (22.5% vs. 7.6%, P = 0.009, and 20.0% vs. 8.4%, P = 0.041, respectively). Moreover, the genotype 877C/T contributed to both dyslipidemia and high FPG independent of age, sex, and visceral obesity. Regarding 394C>G, no association between the genotype and metabolic phenotypes was detected. CONCLUSION: Results suggest that genetic variations in the C/EBP-delta might play a role in some metabolic phenotypes.