CREBBP Polymorphisms and Haplotypes Are Associated with Hypertension in Korean Population

CREB-binding protein (CREBBP, CBP) is involved in the transcriptional coactivation of several transcription factors. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in the coding region of the CREBBP gene were associated with the level of blood pressure, HDL-cholesterol, total cholesterol, and hemoglobin A1c in Korean population. Two synonymous SNPs (rs129974, Ile1262Ile; rs3025694, Pro890Pro) of the CREBBP gene were genotyped by direct sequencing. SNPStats and Haploview 4.2 programs were used to analyze genetic data. Multiple logistic regression models (codominant1, codominant2, dominant, recessive, overdominant, and log-additive models) were performed for odds ratio (OR), 95% confidence interval (CI), and p value. Two synonymous SNPs were associated with hypertension (rs129974, OR=1.72, 95% CI=1.03∼2.88, p=0.038 in allele frequencies; rs3025694, OR=1.75, 95% CI=1.03∼2.96, p=0.040 in the log-additive model, OR=1.87, 95% CI=1.13∼3.12, p=0.016 in allele frequencies). Haplotypes of these two synonymous SNPs were also associated with hypertension (GC haplotype, chi square=5.101, p=0.024; TT haplotype, chi square=5.169, p=0.023). However, the examined two SNPs were not related to the level of HDL-cholesterol and total cholesterol. These results suggest that CREBBP may be associated with hypertension in Korean population. KCI Citation Count: 0