The ESR1 397 T>C (PvuII) polymorphism genetic test analyzes a specific variation in the ESR1 gene, which encodes estrogen receptor alpha (ERα), a crucial mediator of estrogen signaling involved in reproductive function, bone metabolism, cardiovascular regulation, and tumorigenesis in hormone-dependent tissues. This test detects a thymine (T) to cytosine (C) substitution at position 397 in intron 1 of ESR1, a site recognized by the PvuII restriction enzyme. This polymorphism has been associated with differences in estrogen receptor expression and function, influencing estrogen responsiveness and modifying the risk of various conditions, including osteoporosis, breast cancer, cardiovascular disease, and reproductive disorders.
Estrogen exerts its biological effects primarily through estrogen receptors, which function as transcription factors regulating gene expression in response to hormonal signaling. The ESR1 gene plays a key role in modulating estrogen activity in target tissues, with the -397 T>C polymorphism affecting receptor binding efficiency and gene transcription. Studies suggest that the C allele is associated with reduced receptor expression and altered estrogen sensitivity, potentially influencing physiological and pathological processes dependent on estrogen signaling. Differences in receptor activity due to genetic variation have been linked to disease susceptibility, particularly in conditions where estrogen plays a protective or pathogenic role.
The ESR1 397 T>C polymorphism has been extensively studied in relation to bone health, as estrogen is a key regulator of bone homeostasis. Reduced estrogen receptor activity associated with the C allele has been correlated with lower bone mineral density (BMD) and an increased risk of osteoporosis and fractures, particularly in postmenopausal women. Estrogen signaling is critical for inhibiting bone resorption and maintaining skeletal integrity, and genetic variations affecting receptor function can influence bone turnover rates. Research has shown that individuals carrying the CC genotype may exhibit an accelerated rate of bone loss, making this polymorphism a potential genetic marker for osteoporosis risk assessment.
Variations in ESR1 influence estrogen-driven cell proliferation, tumor development, and response to hormone therapy in the context of breast cancer. The -397 T>C polymorphism has been associated with differential risks of hormone receptor-positive breast cancer, with studies indicating that the C allele may be linked to altered estrogen receptor activity, affecting tumor growth dynamics. Additionally, this variant has been implicated in endometrial and ovarian cancer susceptibility, further supporting its role in modulating estrogen signaling in hormone-sensitive tissues.
Beyond cancer and bone health, the ESR1 397 T>C polymorphism has been linked to cardiovascular disease, as estrogen plays a cardioprotective role by influencing lipid metabolism, vascular function, and inflammatory responses. Reduced estrogen receptor activity associated with the C allele has been correlated with an increased risk of atherosclerosis, hypertension, and adverse lipid profiles, particularly in postmenopausal individuals. Furthermore, this polymorphism has been investigated in the context of reproductive disorders, including polycystic ovary syndrome (PCOS) and fertility-related conditions, where estrogen receptor function influences ovarian function, menstrual cycle regulation, and reproductive outcomes.
Genetic testing for the ESR1 397 T>C (PvuII) polymorphism provides insight into the genetic determinants of estrogen receptor function and their implications for hormone-related health conditions. Identifying this variant enables the evaluation of genetic predisposition to diseases influenced by estrogen signaling, allowing for personalized approaches in managing bone health, cancer risk, cardiovascular function, and reproductive health. Understanding individual differences in estrogen receptor activity contributes to a more precise assessment of disease susceptibility and potential therapeutic responses to hormone-based interventions.
The ESR1 397 T>C (PvuII) polymorphism genetic test is also included in:
