ADRB2 rs1042716: Understanding the Gln27Glu Variant
The genetic variant rs1042716 represents a common single nucleotide polymorphism within the ADRB2 gene, typically known in functional studies as Gln27Glu (rs1042714). It encodes a structural variation in the beta-2 adrenergic receptor, which binds adrenaline and noradrenaline to regulate airway tone, vascular resistance, and metabolic lipolysis. Research has evaluated this polymorphism for associations with resting energy expenditure, body weight traits, and endurance versus sprint performance, though clinical evidence remains limited and findings vary across populations.
What each genotype means
Typical beta-2 receptor regulation
You carry two copies of the C allele (encoding Gln27), which is considered the ancestral form of the ADRB2 receptor. Research indicates that receptors encoded by this genotype undergo standard agonist-promoted downregulation, and individuals carrying this genotype often show a typical resting metabolic rate and baseline lipid mobilization. Evidence linking this genotype specifically to altered body mass index or athletic performance remains mixed and varies across ancestral groups.
Carried by approximately 35% to 40% of individuals of European ancestry, and at higher frequencies in East Asian populations.
Intermediate metabolic and receptor trait
You carry one copy of the C allele (Gln27) and one copy of the G allele (Glu27). Having this heterozygous genotype is associated in some observational studies with intermediate beta-2 adrenergic receptor downregulation and slight variations in carbohydrate and lipid oxidation during exercise. Findings regarding weight regulation and exercise capacity are conflicting across studies, indicating limited clinical impact on its own.
Carried by roughly 45% to 50% of people of European ancestry, representing the most common genotype in several populations.
Altered receptor downregulation profile
You carry two copies of the G allele (encoding Glu27), which has been shown in laboratory studies to resist agonist-induced downregulation of the beta-2 adrenergic receptor. Some clinical and athletic studies associate this genotype with higher baseline lipid storage, minor shifts toward endurance performance traits, and modest differences in dietary weight-loss responsiveness, though meta-analyses note that associations with obesity and metabolic rate are limited and inconsistent across different ancestries. If you are taking beta-agonist medications, consult your clinician or pharmacist regarding your therapy.
Found in roughly 12% to 17% of European populations, but occurs at significantly lower frequencies in East Asian and African ancestries.
Variant Identification and Molecular Context
The variant rs1042716 is a missense polymorphism located in the coding region of the ADRB2 gene on chromosome 5. In scientific literature and historical registries, this missense change is widely referenced by its functional amino acid substitution Gln27Glu (glutamine to glutamate at codon 27) and is closely mapped to rs1042714. At the molecular level, this substitution alters the extracellular amino terminus of the beta-2 adrenergic receptor. While classical receptors readily undergo desensitization and internalization upon prolonged exposure to agonist stimulation, in vitro studies have demonstrated that receptors carrying the Glu27 allele exhibit resistance to agonist-mediated downregulation compared to the ancestral Gln27 form. Because it resides in the coding sequence of a single-exon gene, this variant directly affects receptor protein dynamics without requiring alternative splicing modifications.
The Biological Role of the ADRB2 Gene
The ADRB2 gene provides the instructions for producing the beta-2 adrenergic receptor, a cell-surface G protein-coupled receptor found abundantly in bronchial smooth muscle, skeletal muscle, vascular walls, and adipose tissue. When activated by circulating catecholamines—predominantly adrenaline—the receptor couples to the Gs protein, activating adenylate cyclase and increasing intracellular cyclic adenosine monophosphate (cAMP). This signaling cascade prompts several vital physiological adaptations, including the relaxation of airway smooth muscle to facilitate breathing, vasodilation in skeletal muscle, increased heart rate, and the stimulation of lipolysis (the breakdown of stored triglycerides into free fatty acids). Because ADRB2 serves as an essential gatekeeper of fight-or-flight energy mobilization, genetic variations in the receptor can subtly influence how cells react to continuous physical exertion and metabolic demands.
Cardiovascular, Fitness, and Metabolic Associations
Epidemiological and exercise physiology investigations have evaluated rs1042716 for its influence on athletic traits, body mass index, and energy expenditure. Studies looking at resting metabolic rate and exercise recovery have suggested that individuals carrying the Glu27 allele may experience differences in substrate utilization and lipolysis during submaximal exercise compared to Gln27 homozygotes. In athletic cohorts, researchers have probed whether Gln27 or Glu27 confers advantages in sprint versus endurance disciplines, frequently evaluating haplotypes alongside the nearby Arg16Gly (rs1042713) variant. However, the evidence base remains mixed and modest. While meta-analyses have found potential associations between the Glu27 allele and higher body mass index or obesity risk in specific ancestries, these effects are small, unconfirmed across all geographic cohorts, and often dependent on interactions with diet and physical activity levels.
Population Distribution and Haplotype Structure
The alleles of this ADRB2 variant are widely distributed across global human populations. In European ancestries, the minor allele frequency is approximately 0.38, meaning that heterozygous carriers and homozygotes for both alleles are common in healthy individuals. The variant also displays notable frequency differences across Asian, African, and Indigenous populations, reflecting deep evolutionary history and selection across adrenergic genes. Importantly, rs1042716 exists in strong linkage disequilibrium with other common variants in ADRB2, particularly the Arg16Gly site. Because alleles are frequently inherited together as functional haplotypes (such as Gly16-Glu27 or Arg16-Gln27), researchers emphasize that isolated single-SNP testing provides an incomplete picture of receptor behavior compared to complete haplotype evaluation.
Clinical Utility and Lifestyle Considerations
It is critical to distinguish between modest statistical associations identified in population genetics and actionable medical diagnoses. The rs1042716 variant is categorized as having limited clinical validity; it is not a pathogenic mutation and cannot be used to predict an individual's weight, metabolic health, or athletic ceiling. Lifestyle factors such as cardiovascular training, balanced nutrition, and sleep hygiene play a far greater role in metabolic rate and fitness outcomes than any single ADRB2 genotype. Furthermore, while the beta-2 adrenergic receptor is the molecular target for bronchodilator medications like albuterol, consumers should never adjust their prescription regimens based on commercial DNA test results. Any considerations regarding asthma management or cardiovascular medications must be discussed directly with a qualified healthcare professional.
How common is this variant?
The minor allele occurs at an estimated frequency of approximately 0.38 in European populations according to gnomAD datasets, with frequencies ranging broadly across global ancestries.
Frequently asked questions
Does having the ADRB2 rs1042716 variant mean I cannot lose weight?
No, having a specific genotype at rs1042716 does not prevent weight loss or cause obesity. While some studies suggest slight variations in how fats are metabolized during exercise, total caloric balance, regular physical activity, and dietary quality remain the primary drivers of body composition.
Can this genetic variant tell me if I am better at sprint or endurance sports?
Research into ADRB2 and athletic performance has shown mixed results, and rs1042716 alone cannot determine your athletic potential. Athletic performance is a complex polygenic trait shaped by hundreds of genetic factors alongside training, environment, and recovery.
Does this SNP impact my response to asthma inhalers?
ADRB2 encodes the receptor targeted by beta-2 agonist inhalers such as albuterol, but rs1042716 has not demonstrated consistent clinical utility in predicting asthma medication response. You should never alter your inhaler use or prescription dosing based on personal genetic test results without consulting your physician.
What is the difference between Gln27Glu and rs1042716?
They describe the same genetic phenomenon: rs1042716 is the reference SNP identifier for the physical location in the genome, whereas Gln27Glu refers to the amino acid change (glutamine to glutamate at position 27) that occurs in the resulting beta-2 adrenergic receptor protein.
Sources & further reading
Educational information only, last refreshed 9/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1042716?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in ADRB2
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.