What you carry at this position in your DNA and what research says about it.
Blood Pressure: 8/10 evidence, 25 publications.
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Sample genotype (not yours): T/T
Slightly Higher Blood Pressure and Better Glyburide Response
Estrogen receptor signaling pathways associated with this genotype are linked to slightly elevated systolic blood pressure. However, those taking the type 2 diabetes medication glyburide may experience a more favorable therapeutic response.
What this genotype means: Slightly elevated systolic blood pressure; Better response to glyburide therapy.
Sample genotype (not yours): C/C
Slightly Lower Blood Pressure and Typical Glyburide Response
This genotype is linked to slightly lower systolic blood pressure and a typical response to glyburide. It also correlates with a slightly taller stature.
What this genotype means: Slightly lower systolic blood pressure; Typical response to glyburide therapy.
Sample genotype (not yours): T/C
Typical Blood Pressure and Better Glyburide Response
This genotype is associated with typical systolic blood pressure and average physical measurements. It also correlates with an enhanced response to the type 2 diabetes drug glyburide.
What this genotype means: Typical systolic blood pressure; Better response to glyburide therapy.
Gene function and biological role
Gene Function: The ESR1 gene encodes estrogen receptor alpha, a nuclear receptor crucial for mediating the biological effects of estrogen [1]. Estrogen signaling through this receptor regulates diverse physiological processes, including cardiovascular function, bone density, and glucose metabolism [2]. In the blood vessels, estrogen receptor alpha promotes nitric oxide production, which helps maintain arterial elasticity and regulate blood pressure [3]. Variations in this gene can alter receptor expression or activity, influencing susceptibility to metabolic and cardiovascular traits [4].
Variant Impact: The rs2077647 variant is a synonymous single nucleotide change located in exon 1 of the ESR1 gene, resulting in a Serine-to-Serine codon change at position 10 [2]. Although it does not alter the amino acid sequence of the estrogen receptor alpha protein, synonymous changes can influence mRNA stability, translation kinetics, or splicing efficiency [5]. This specific variant has been evaluated across multiple clinical cohorts for its potential role in cardiovascular health, metabolic syndrome, and hormone-sensitive conditions [4]. Large-scale genetic studies have linked this nucleotide change to subtle variations in blood pressure, height, and response to certain diabetes medications [6].
Key Insight: Even though this genetic change is silent and does not alter the final protein structure, it is linked to measurable differences in blood pressure and how the body responds to certain diabetes medications.
Location: ESR1. Chromosome 6 · 6q25.1 · 151.8 Mb
Estimated prevalence by population
Global 27.7%; European 27.1%; African 26.1%; East Asian 38.2%; South Asian 25.2%; Americas 28.2%; Ashkenazi 23.9%; Finnish 33.5%; Middle Eastern 30.7%; Amish 32.2%.
Estimated TT genotype frequency.
Global 49.7%; European 49.9%; African 50.0%; East Asian 47.2%; South Asian 50.0%; Americas 49.8%; Ashkenazi 50.0%; Finnish 48.7%; Middle Eastern 49.4%; Amish 49.1%.
Estimated TC genotype frequency.
Global 22.6%; European 23.0%; African 23.9%; East Asian 14.6%; South Asian 24.8%; Americas 22.0%; Ashkenazi 26.1%; Finnish 17.7%; Middle Eastern 19.9%; Amish 18.7%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 8/10. Source: PMID 39024449. Slightly Elevated.
Pharmacogenomics
Diabetes Medication Response
Glyburide Response. Evidence: 5/10. Source: PMID 27403931. Stronger Response.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 8/10. Source: PMID 39024449. Slightly Shorter.
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 7/10. Source: PMID 19760036. Typical Risk.
Showing effects for C/C genotype
Blood Pressure. Evidence: 8/10. Source: PMID 39024449. Slightly Lower.
Glyburide Response. Evidence: 5/10. Source: PMID 27403931. Typical Response.
Height. Evidence: 8/10. Source: PMID 39024449. Slightly Taller.
Showing effects for T/C genotype
Blood Pressure. Evidence: 8/10. Source: PMID 39024449. Typical.
Height. Evidence: 8/10. Source: PMID 39024449. Typical.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Estrogen receptor alpha plays a key role in vascular health by modulating blood vessel dilation and arterial tone [1]. Having two copies of the T allele is associated with a slight increase in systolic blood pressure, as observed in large-scale cohort studies [2]. This genetic profile also correlates with a slightly shorter stature and lower body weight compared to carriers of the C allele [2]. In the context of metabolic health, clinical research indicates that this genotype is associated with a better therapeutic response to glyburide, a common sulfonylurea medication used to manage type 2 diabetes [3]. While the blood pressure elevation is modest, maintaining a heart-healthy lifestyle remains beneficial [1]. Multiple clinical evaluations have confirmed that this variant does not increase the risk of breast cancer or other hormone-related malignancies [4].
Slightly elevated systolic blood pressure; Better response to glyburide therapy.
Sample genotype: CC (Homozygous)
Estrogen receptor alpha influences the vascular endothelium, where it promotes vasodilation and helps maintain healthy blood pressure levels [1]. Carrying two copies of the C allele is associated with slightly lower systolic blood pressure, offering a modest cardiovascular advantage [2]. However, some cardiovascular studies have noted a correlation with slightly higher arterial stiffness measurements in certain populations [1]. In terms of physical traits, this genotype is linked to a slightly taller stature and higher body weight [2]. Regarding diabetes management, individuals with this genotype typically show a standard, average response to the medication glyburide [3]. Clinical databases and meta-analyses have thoroughly evaluated this variant and confirmed it is completely benign, carrying no increased risk for breast cancer or estrogen resistance syndrome [4].
Slightly lower systolic blood pressure; Typical response to glyburide therapy.
Sample genotype: TC (Heterozygous)
Estrogen receptor alpha helps regulate cardiovascular and metabolic homeostasis through complex hormonal pathways [1]. Carrying one T allele and one C allele generally results in typical systolic blood pressure and average arterial stiffness [2]. This balanced genetic profile is also associated with typical height and body weight measurements [3]. For individuals managing type 2 diabetes, clinical data suggests that this heterozygous genotype is linked to a more favorable response to glyburide therapy, helping to lower blood sugar levels effectively [4]. Extensive epidemiological studies and clinical databases have demonstrated that this variant is entirely benign regarding breast cancer susceptibility and migraine risk [5]. Overall, this genotype represents a common, baseline genetic variation with no elevated health risks [1].
Typical systolic blood pressure; Better response to glyburide therapy.
Variants with shared genetic architecture
rs2046210 · ESR1 Gene · Chr 6 · Breast Cancer Risk
rs2234693 · ESR1 Gene · Chr 6 · Bone and Heart Health
rs2228480 · ESR1 Gene · Chr 6 · Estrogen Receptor Health
Estrogen receptor alpha polymorphisms and the risk of malignancies.
Association between arterial stiffness and variations in oestrogen-related genes.
Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Genetic and Clinical Predictive Factors of Sulfonylurea Failure in Patients with Type 2 Diabetes.
Content updated August 2026.
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