Related Experiment Video
Updated: May 30, 2025

An In Vivo Estrogen Deficiency Mouse Model for Screening Exogenous Estrogen Treatments of Cardiovascular Dysfunction After Menopause
Published on: August 13, 2019
Association between the aromatase (CYP19A1) gene variant rs10046 and cardiovascular risk in postmenopausal women
Betânia Rodrigues Dos Santos1,2, Gislaine Casanova1,3, Thais Rasia da Silva1
1Unidade de Endocrinologia Ginecológica Hospital de Clínicas de Porto Alegre Divisão de Endocrinologia Porto AlegreRS Brasil Unidade de Endocrinologia Ginecológica, Divisão de Endocrinologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.
Objective:
To assess the genotypic and allelic distribution of the rs10046 polymorphism in the CYP19A1 gene and evaluate whether this aromatase gene variant is associated with cardiovascular risk in postmenopausal women.
Materials And Methods:
This cross-sectional study analyzed repository-stored samples from 370 postmenopausal women aged 44-72 years. Clinical, metabolic, and hormonal data were collected. The patients' estimated 10-year atherosclerotic cardiovascular disease (ASCVD) risk was calculated using the ASCVD Risk Estimator Plus, as recommended by the American College of Cardiology/American Heart Association. Genotyping of the rs10046 polymorphism of the CYP19A1 gene was carried out using real-time polymerase chain reaction with allelic discrimination assays.
Results:
The participants had a mean age of 56.07 ± 5.58 years and a mean body mass index (BMI) of 27.73 ± 5.41 kg/m². The 10-year ASCVD risk was estimated to be low, borderline, intermediate, and high in 64.7%, 12.8%, 19.8%, and 2.7% of the participants, respectively. The CC genotype of the rs10046 polymorphism was associated with low estradiol levels (p = 0.003) and high ASCVD scores (p = 0.014). In a multivariate model, age (p < 0.001) and CC genotype (p = 0.021) were independently associated with higher ASCVD risk.
Conclusion:
The present study found that the CC genotype of the rs10046 polymorphism in the CYP19A1 gene is associated with low estradiol levels and an increased ASCVD risk. Additionally, the results indicated that, among postmenopausal women, age and the CC genotype of rs10046 were associated with a high prevalence of ASCVD risk, independent of BMI.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Psychoneuroimmunology: Cardiovascular Disease
A key area of focus in PNI is the relationship between stress and coronary...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Internal Receptors
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

