Association of estrogen receptor-α gene polymorphisms with cardiac autonomic nervous activity in healthy young Japanese males

Background: Estrogens exert beneficial effects on the cardiovascular system that are mediated by estrogen receptors. We examined the association between the estrogen receptor α gene (ESR1) PvuII and XbaI polymorphisms and cardiac autonomic nervous function in Japanese males. Methods: We examined 252 young healthy males for association of ESR1 PvuII and XbaI polymorphisms and short-term heart rate variability (HRV) during supine rest and in a standing position. The very low frequency (VLF), low frequency (LF), and high frequency (HF) components of HRV were quantified by frequency domain analysis. Results: Carriers of the ESR1 PvuII C allele had higher mean blood pressure (BP), while the XbaI GG genotype was significantly associated with higher diastolic and mean BP, but lower HR. In the haplotype analysis, carriers of the ESR1 haplotype 2 (PvuII C and XbaI A) allele had a higher systolic and mean BP, and lower HRV spectral powers (total power, VLF, LF, and HF components) in a supine rest compared with those of non-carriers. Conclusions: The ESR1 PvuII and XbaI haplotype is associated with BP variation and the reduction in cardiac autonomic nervous activity in young Japanese males, which may be precursors of future pathological episodes of cardiovascular diseases.