ADRB2 rs1042714: Understanding the Gln27Glu Variant
The rs1042714 variant, commonly known as Gln27Glu, is a genetic change in the ADRB2 gene that alters the structure of the beta-2 adrenergic receptor. Research has investigated its potential associations with cardiovascular health and metabolic traits, though findings remain inconsistent across different populations.
What each genotype means
Typical beta-2 receptor baseline
You carry two copies of the C allele, coding for the reference glutamine amino acid at position 27 (Gln27Gln). Research associates this genotype with normal receptor downregulation in response to beta-agonists and baseline metabolic traits, though some studies show modest protection against elevated body mass index compared to G allele carriers. Because published associations between this variant, asthma medication response, and cardiovascular traits are mixed and often ethnicity-specific, you should discuss any beta-agonist or beta-blocker therapies directly with your clinician or pharmacist.
Carried by approximately 35% to 45% of European and African ancestry populations, and over 80% of individuals in certain East Asian and Middle Eastern populations.
Intermediate metabolic and vascular responsiveness
You carry one copy of the C allele and one copy of the G allele (Gln27Glu). Some observational studies link this heterozygous profile to slight variations in lipid metabolism, vascular tone, or obesity risk, though findings remain inconsistent across different population groups. If you take beta-agonist bronchodilators or beta-blockers, discuss your medication response and management with your physician or pharmacist.
Carried by roughly 40% to 50% of individuals of European and African ancestry, but observed at much lower rates (around 5% to 15%) in East Asian populations.
Altered metabolic and vascular profile
You carry two copies of the G allele, coding for glutamic acid at position 27 (Glu27Glu), which exhibits resistance to agonist-promoted receptor downregulation in vitro. Clinical research associates this genotype with modest predispositions to elevated body mass index, altered lipid response during beta-blocker therapy, and differences in exercise-induced lipolysis, though effects vary substantially by ancestry and sex. If you are prescribed medications targeting beta-adrenergic receptors, consult your clinician or pharmacist regarding optimal therapeutic monitoring.
Carried by roughly 10% to 20% of people of European and African descent, but found in fewer than 2% to 5% of East Asian populations.
What is the rs1042714 Variant?
The rs1042714 variant is a single nucleotide polymorphism (SNP) located within the ADRB2 gene. In genetic terms, this variant results in a missense mutation, meaning it causes a change in the amino acid sequence of the protein the gene encodes. Specifically, it leads to the substitution of glutamine (Gln) for glutamic acid (Glu) at position 27 of the beta-2 adrenergic receptor protein. Because this change occurs in the extracellular portion of the receptor, scientists have long hypothesized that it might influence how the receptor functions or how it interacts with signaling molecules in the body. This variant is widely studied because the ADRB2 gene plays a central role in the body's sympathetic nervous system, which regulates involuntary responses like heart rate and metabolism.
The Role of the ADRB2 Gene
The ADRB2 gene provides instructions for making the beta-2 adrenergic receptor. These receptors are found on the surface of many cell types throughout the body, including those in the heart, lungs, and adipose (fat) tissue. When activated by catecholamines like epinephrine, these receptors trigger a cascade of cellular responses. In the heart, they help regulate the force and rate of contractions. In the lungs, they promote the relaxation of smooth muscles, which helps keep airways open. In fat tissue, they are involved in lipolysis, the process of breaking down fats for energy. Because of these diverse functions, variations in the ADRB2 gene are frequently examined for their potential impact on conditions ranging from asthma and obesity to cardiovascular disease.
Research Associations and Evidence Strength
The scientific literature regarding rs1042714 is complex and often contradictory. Some studies have suggested an association between this variant and an increased risk of sudden cardiac death, particularly when looking at large meta-analyses that combine data from multiple cohorts. Other research has explored its link to obesity, with some meta-analyses suggesting a potential association, while others find no significant correlation. It is important to note that the evidence for these associations is considered limited or mixed. Many studies have failed to replicate initial findings, and the strength of the association often varies significantly depending on the ancestry of the population being studied. Because of these inconsistencies, the variant is not currently used as a definitive clinical predictor for any specific disease or health outcome.
Population Frequency
The rs1042714 variant is common, but its frequency varies significantly across different global populations. The Glu27 allele is found at different rates in various ethnic groups, which can influence the results of genetic association studies. For example, some studies have reported the frequency of the Glu27 isoform to be approximately 24.6% in individuals of European ancestry, 18.7% in individuals of African ancestry, and around 9% in Chinese populations. This wide range of prevalence means that the impact of the variant may appear different depending on the genetic background of the group being analyzed, highlighting the importance of considering ancestry in genetic research.
What You Can Do With This Information
Genetic information like your status for rs1042714 is primarily for educational purposes and should not be used to make personal health decisions. Because the associations between this variant and health traits are inconsistent and often weak, it cannot be used to diagnose or predict your risk for conditions like heart disease or obesity. If you have concerns about your cardiovascular health, metabolic status, or any medications you are taking, the most important step is to consult with a qualified healthcare provider or pharmacist. They can evaluate your overall health profile, including family history and lifestyle factors, which are far more predictive of health outcomes than any single genetic variant. Never change your medication or health regimen based on genetic test results without professional guidance.
How common is this variant?
The Glu27 allele frequency varies globally, ranging from approximately 9% in Chinese populations to nearly 25% in European populations.
Frequently asked questions
Is the rs1042714 variant a cause of heart disease?
No, this variant is not considered a direct cause of heart disease. While some studies have explored a statistical association with sudden cardiac death, the evidence is inconsistent and does not establish a direct causal link.
Does my genotype for rs1042714 mean I will become obese?
No. While some research has looked for links between this variant and obesity, the results are mixed and often contradictory. Obesity is a complex condition influenced by many genetic, environmental, and lifestyle factors.
Should I get tested for this variant?
There is no clinical recommendation to test for this variant. Because the associations are not strong enough to guide medical treatment, testing is generally not useful for personal health management.
Can this variant affect how I respond to asthma medication?
The ADRB2 gene is involved in the response to certain asthma medications, but the clinical significance of the rs1042714 variant specifically is not well-established. Always discuss your medication response with your doctor.
Sources & further reading
Educational information only, last refreshed 10/19/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Variant in the beta-2 adrenergic receptor linked to metabolic regulation, exercise-induced lipolysis, and endurance performance.
Synonymous polymorphism in the beta-2 adrenergic receptor (Gln27Glu) modulating receptor down-regulation.
The Gln27Glu variant in the beta-2 adrenergic receptor is associated with metabolic and vascular responses to exercise.
Modulates beta-2 adrenergic receptor expression and cardiovascular reactivity.
This variant in the beta-2 adrenergic receptor gene is associated with differential responses to beta-agonist therapy in asthma patients.
Functional variant in the beta-2 adrenergic receptor linked to metabolic rate and cardiovascular reactivity.