What you carry at this position in your DNA and what research says about it.
Cardiovascular Health: 5/10 evidence, 57 publications.
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Sample genotype (not yours): G/G
Altered Cardiovascular Risk and Medication Response
This genotype is associated with an increased risk of blood clots and stroke, alongside a higher likelihood of asthma flare-ups. However, it may offer some protection against type 2 diabetes and alter how you respond to certain heart medications.
What this genotype means: Increased risk of blood clots and stroke; Poorer response to some asthma inhalers; Lower risk of type 2 diabetes.
Sample genotype (not yours): C/C
Typical Cardiovascular Risk and Standard Drug Response
This genotype is associated with a lower risk of blood clots and stroke compared to G allele carriers. It also correlates with a typical response to standard asthma and blood pressure medications.
What this genotype means: Lower risk of blood clots and stroke; Typical response to asthma rescue inhalers; Enhanced response to glaucoma eye drops.
Sample genotype (not yours): G/C
Slightly Elevated Blood Clot Risk
Carrying one copy of the G allele is associated with a slightly higher risk of blood clots compared to the typical genotype. Your response to asthma and blood pressure medications is generally expected to be typical.
What this genotype means: Slightly increased risk of venous blood clots; Typical response to most cardiovascular medications.
Gene function and biological role
Gene Function: The ADRB2 gene encodes the beta-2 adrenergic receptor, a key protein that spans cell membranes to transmit signals from adrenaline and noradrenaline [1]. This receptor is highly expressed in bronchial smooth muscle, blood vessels, and metabolic tissues, where it regulates airway relaxation, blood vessel dilation, and fat breakdown [2]. Because of its central role in the sympathetic nervous system, variations in this gene can alter how the body responds to physical stress, exercise, and temperature changes [3]. It is also a major target for common medications, including asthma bronchodilators and cardiovascular beta-blockers [4].
Variant Impact: The rs1042714 variant is a missense mutation in the coding region of the ADRB2 gene that replaces the amino acid glutamine with glutamic acid at position 27 [2]. This specific structural change alters the rate at which the beta-2 adrenergic receptor is internalized and degraded after activation [5]. The glutamic acid variant, encoded by the G allele, exhibits altered receptor downregulation compared to the more common glutamine variant [1]. Consequently, this single letter change impacts blood vessel responsiveness, airway sensitivity, and how the body processes metabolic energy [6].
Key Insight: This variant alters how quickly your cells recycle adrenaline receptors, directly influencing your response to common blood pressure and asthma medications.
Location: ADRB2. Chromosome 5 · 5q32 · 148.8 Mb
Estimated prevalence by population
Global 11.5%; European 18.7%; African 3.2%; East Asian 0.8%; South Asian 4.2%; Americas 5.9%; Ashkenazi 13.8%; Finnish 13.6%; Middle Eastern 5.8%; Amish 19.9%.
Estimated GG genotype frequency.
Global 40.5%; European 49.1%; African 29.5%; East Asian 16.5%; South Asian 32.7%; Americas 36.7%; Ashkenazi 46.7%; Finnish 46.5%; Middle Eastern 36.6%; Amish 49.4%.
Estimated GC genotype frequency.
Global 48.0%; European 32.3%; African 67.2%; East Asian 82.6%; South Asian 63.1%; Americas 57.4%; Ashkenazi 39.5%; Finnish 39.9%; Middle Eastern 57.5%; Amish 30.7%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Coagulation & Clotting
Blood Clot Risk. Evidence: 4/10. Source: PMID 19263529. Elevated Risk.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 4/10. Source: PMID 19619703. Lower Risk.
Organ Systems
Respiratory Health
Asthma Control. Evidence: 5/10. Source: PMID 31699066. Poorer Control.
Vision & Eye Health
Eye Pressure Drug Response. Evidence: 3/10. Source: PMID 18625943. Reduced Response.
Pharmacogenomics
Cardiovascular Drug Response
Beta-Blocker Response. Evidence: 5/10. Source: PMID 31090079. Altered Response.
Showing effects for C/C genotype
Blood Clot Risk. Evidence: 4/10. Source: PMID 19263529. Typical Risk.
Type 2 Diabetes. Evidence: 4/10. Source: PMID 19619703. Typical Risk.
Asthma Control. Evidence: 5/10. Source: PMID 31699066. Typical Control.
Eye Pressure Drug Response. Evidence: 3/10. Source: PMID 18625943. Enhanced Response.
Beta-Blocker Response. Evidence: 5/10. Source: PMID 31090079. Typical Response.
Showing effects for G/C genotype
Blood Clot Risk. Evidence: 4/10. Source: PMID 19263529. Slightly Elevated.
Eye Pressure Drug Response. Evidence: 3/10. Source: PMID 18625943. Typical Response.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the G allele alters the physical structure of your beta-2 adrenergic receptors, making them more resistant to normal cellular breakdown [1]. This persistent receptor activity is linked to a higher risk of developing blood clots in the veins and experiencing ischemic strokes [2]. In the lungs, this altered signaling can lead to a poorer response to standard rescue inhalers and a higher frequency of asthma exacerbations [3]. On the positive side, this genotype is associated with a significantly lower risk of developing type 2 diabetes compared to other genotypes [4]. Additionally, it may influence your response to cardiovascular medications, showing a better response to carvedilol but a higher risk of elevated triglycerides when taking older beta-blockers like atenolol [5].
Increased risk of blood clots and stroke; Poorer response to some asthma inhalers; Lower risk of type 2 diabetes.
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele is the most common genetic profile globally and represents the baseline for beta-2 adrenergic receptor function [1]. Your receptors undergo normal, efficient downregulation when exposed to adrenaline, maintaining typical vascular and airway sensitivity [2]. This standard function translates to a lower risk of venous thromboembolism and ischemic stroke compared to individuals carrying the G allele [3]. If you require treatment for asthma, your body is expected to respond normally to standard bronchodilators without an elevated risk of unexpected flare-ups [4]. Furthermore, if you ever need eye drops to reduce intraocular pressure, this genotype is associated with a significantly better response to topical beta-blockers [5].
Lower risk of blood clots and stroke; Typical response to asthma rescue inhalers; Enhanced response to glaucoma eye drops.
Sample genotype: GC (Heterozygous)
Having one copy of the G allele and one copy of the C allele results in a mixture of standard and down-regulation-resistant beta-2 adrenergic receptors on your cells [1]. This intermediate receptor profile is associated with a slightly elevated risk of venous thromboembolism compared to those with the C/C genotype [2]. Your risk for ischemic stroke and type 2 diabetes remains close to the population average, as these traits often require two copies of the variant allele to show strong associations [3]. In terms of medication, you are likely to experience a typical response to most beta-blockers and asthma therapies [4]. However, some studies suggest subtle differences in how your blood vessels adapt during exercise or stress [5].
Slightly increased risk of venous blood clots; Typical response to most cardiovascular medications.
Variants with shared genetic architecture
rs1800888 · ADRB2 Gene · Chr 5 · Heart and Lung Health
rs1042713 · ADRB2 Gene · Chr 5 · Asthma Inhaler Response
rs1042711 · ADRB2 Gene · Chr 5 · Metabolic and Airway Health
Content updated August 2026.
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