pubmed > ESR1 > rs9340799 > t-g c-a

Association of estrogen receptor alpha gene polymorphisms with autonomic modulation of heart rate in users and nonusers of oral contraceptives.
This study examined the association between estrogen receptor α gene (ESR1) polymorphisms and blood pressure (BP), heart rate (HR) and autonomic modulation of HR in a sample population. Two hundred thirty-two young healthy women were selected, and those using oral contraceptives (OC) were compared with nonusers (control group). Short-term HR variability (HRV) was evaluated in both the supine and sitting positions using temporal indices rMSSD [square root of the mean squared differences of successive R-R intervals (RRi) divided by the number of RRi minus one], SDNN (root mean square of differences from mean RRi, divided by the number of RRi) and frequency domain methods. Power spectral components were reported at low frequency (LF) and high frequency (HF) and as LF/HF ratio. ESR1 c.454-397T>C (rs2234693) and c.454-351A>G (rs9340799) polymorphisms were determined by polymerase chain reaction and fragment restriction analysis. The ESR1 T>C and A>G polymorphisms had no effect on HR, rMSSD, SDNN, LF, HF or LF/HF ratio (supine or sitting), independently of OC use. The ESR1 T-A, T-G, C-A and C-G haplotypes were not associated with HR, BP or HRV. ESR1 variants had no effect on the autonomic modulation of HR in young women users and nonusers of OC and may not be implicated in cardiovascular risk in young women.
Publication Date: 2012-12-19
Journal: Contraception

Lack of association of estrogen receptor alpha gene polymorphisms with cardiorespiratory and metabolic variables in young women.
This study examined the association of estrogen receptor alpha gene (ESR1) polymorphisms with cardiorespiratory and metabolic parameters in young women. In total, 354 healthy women were selected for cardiopulmonary exercise testing and short-term heart rate (HR) variability (HRV) evaluation. The HRV analysis was determined by the temporal indices rMSSD (square root of the mean squared differences of successive R-R intervals (RRi) divided by the number of RRi minus one), SDNN (root mean square of differences from mean RRi, divided by the number of RRi) and power spectrum components by low frequency (LF), high frequency (HF) and LF/HF ratio. Blood samples were obtained for serum lipids, estradiol and DNA extraction. ESR1 rs2234693 and rs9340799 polymorphisms were analyzed by PCR and fragment restriction analysis. HR and oxygen uptake (VO(2)) values did not differ between the ESR1 polymorphisms with respect to autonomic modulation. We not find a relationship between ESR1 T-A, T-G, C-A and C-G haplotypes and cardiorespiratory and metabolic variables. Multiple linear regression analysis demonstrated that VO(2), total cholesterol and triglycerides influence HRV (p < 0.05). The results suggest that ESR1 variants have no effect on cardiorespiratory and metabolic variables, while HRV indices are influenced by aerobic capacity and lipids in healthy women.
Publication Date: 2012-12-04
Journal: International journal of molecular sciences