The CYP19A1 C>T (rs936306) polymorphism genetic test examines a specific variation in the CYP19A1 gene, which encodes aromatase, the key enzyme responsible for the biosynthesis of estrogens from androgenic precursors. This test detects a cytosine (C) to thymine (T) substitution at the rs936306 locus, a genetic variation that influences aromatase expression levels and estrogen synthesis. Estrogens are fundamental in numerous biological processes, including reproductive function, bone metabolism, and the pathophysiology of hormone-related cancers. Polymorphisms in CYP19A1 have been associated with altered circulating estrogen levels, affecting the risk of conditions such as breast cancer, osteoporosis, and gynecological disorders.
Aromatase activity, regulated by CYP19A1, is essential for converting androgens such as testosterone and androstenedione into estradiol and estrone, respectively. The rs936306 polymorphism is located in a regulatory region of the gene and has been linked to differential expression of aromatase, leading to variability in estrogen concentrations. Studies suggest that individuals carrying the T allele may exhibit increased enzymatic activity, resulting in higher estrogen levels. In contrast, the C allele has been associated with reduced aromatase function and lower estrogen synthesis. This genetic variation has been implicated in conditions where estrogen plays a critical role in disease development and progression.
The CYP19A1 rs936306 polymorphism has been extensively studied in relation to breast cancer susceptibility, particularly in estrogen receptor-positive (ER+) tumors. Increased estrogen levels associated with the T allele may enhance cell proliferation in estrogen-sensitive tissues, promoting tumor growth and progression. In contrast, reduced aromatase activity in C allele carriers may result in lower lifetime estrogen exposure, potentially reducing the risk of hormone-dependent malignancies. Furthermore, this polymorphism has been investigated in the context of ovarian and endometrial cancers, where estrogen metabolism influences tumor development.
Beyond cancer risk, the rs936306 polymorphism has been linked to bone mineral density (BMD) and osteoporosis susceptibility. Estrogen is a critical regulator of bone homeostasis, exerting protective effects by inhibiting bone resorption and maintaining skeletal integrity. Individuals with the T allele may have higher circulating estrogen levels, which could benefit bone density preservation. In contrast, those with the C allele may be more susceptible to age-related bone loss and increased fracture risk. Given the essential role of aromatase in estrogen production, genetic variation in CYP19A1 may also contribute to differences in cardiovascular health, metabolic regulation, and inflammatory responses.
The influence of the CYP19A1 rs936306 polymorphism on estrogen biosynthesis extends to reproductive health, with potential effects on fertility, menstrual cycle regulation, and conditions such as polycystic ovary syndrome (PCOS) and endometriosis. Alterations in aromatase activity may disrupt the hormonal balance required for normal ovarian function, impacting follicular development and ovulatory patterns. Additionally, variations in estrogen levels have been implicated in mood regulation and cognitive function, with studies suggesting a potential link between CYP19A1 polymorphisms and neurological disorders such as Alzheimer's disease.
Genetic testing for the CYP19A1 C>T (rs936306) polymorphism provides valuable insight into an individual’s estrogen metabolism profile and its implications for hormone-dependent health conditions. Identification of this variant allows for the evaluation of genetic predisposition to estrogen-related diseases. It offers the opportunity for targeted interventions to optimize hormonal balance and mitigate associated health risks.
The CYP19A1 C>T (rs936306) polymorphism genetic test is also included in:
