Background: Phenylethanolamine N-methyltransferase gene (PNMT) catalyzes the synthesis of epinephrine and plays an important role in regulating cardiovascular function. Genetic variation in the PNMT promoter is reportedly associated with the risk of essential hypertension in certain population.
Methods: In the present study, we explored the association of two common PNMT promoter single-nucleotide polymorphisms (SNPs) G-367A (rs3764351) and G-161A (rs876493) and their haplotypes with the risk of essential hypertension in a Han Chinese population, using 316 pairs of age-, sex-, and geographically matched essential hypertension patients and normotensive controls.
Results: No significant difference in allele and genotype frequencies at either G-367A (rs3764351) or G-161A (rs876493) was observed between essential hypertension patients and normotensive controls. However, the 2-SNP AA haplotype was found significantly more common in normotensive controls than in essential hypertensive patients (P = 0.01; adjusted odds ratios, 0.17; 95% confidence interval, 0.05-0.58).
Conclusions: The 2-SNP AA haplotype in the PNMT promoter is associated with decreased risk of essential hypertension in Han Chinese. This is the first evidence of an association between a PNMT promoter haplotype and the risk of essential hypertension.