Abstract
Genetic polymorphisms in β1-, β2- and β3-adrenergic receptors (β-ARs) have been associated with chronic non-communicable disorders, such as cardiovascular diseases, asthma, chronic obstructive pulmonary disease (COPD) and obesity, as well as β-agonists and antagonists response and toxicity. The purpose of this study was to determine the frequency distribution of ADRB1 genetic variants Ser49Gly and Arg389Gly, ADRB2 variants Gly16Arg and Gln27Glu, ADRB3 variant Trp64Arg in a Southeastern European Caucasian (SEC) population sample and to establish a comparison with existing data from other human populations. A sample of 431 men and 590 women volunteered to participate in this genotyping analysis after anonymization and de-identification. Real Time PCR (Melting Curve Analysis) followed DNA extraction from buccal swabs and statistical analysis of the results was performed. The allele frequencies in the SEC population were Ser49 (90.3%), Arg389 (69.49%), Gly16 (61.61%), Gln27 (65.72%), and Trp64 (94.52%), while a Hardy-Weinberg Equilibrium (HWE) was detected in the population studied. Comparisons for the Ser49Gly, Gln27Glu, and Trp64Arg allele distributions demonstrated significant differences between SEC and the European group. European subgroups comparisons showed that allele distributions were similar for four of the five SNPs between SEC and Southwestern European Caucasians (SWC), while they were quite distinct from the Northwestern European Caucasians (NWC). These data underline the importance of interethnic variability of β-ARs genetic polymorphisms.
Highlights
Beta-adrenergic receptors (β-Adrenergic receptor (AR)) are essential components of the sympathetic nervous system. β-ARs belong to the superfamily of Stimulatory G protein (Gs) protein-coupled receptors (GPCRs) and their signaling pathway is stimulated by the endogenous catecholamines, epinephrine and norepinephrine (Brodde, 2008)
This study examined the allele and genotype frequency distributions in a Southeastern European Caucasian (SEC) population sample and the results were compared with published data from other ethnic groups
The observed and expected distributions in all polymorphisms are in Hardy-Weinberg Equilibrium (HWE), except for the Trp64Arg polymorphism
Summary
Beta-adrenergic receptors (β-ARs) are essential components of the sympathetic nervous system. β-ARs belong to the superfamily of G protein-coupled receptors (GPCRs) and their signaling pathway is stimulated by the endogenous catecholamines, epinephrine and norepinephrine (Brodde, 2008). Β-ARs belong to the superfamily of G protein-coupled receptors (GPCRs) and their signaling pathway is stimulated by the endogenous catecholamines, epinephrine and norepinephrine (Brodde, 2008). Long-term sympathetic activation through the Ga protein signaling pathway leads to β-AR desensitization and, results in decreased receptor expression, a state known as downregulation (McGraw and Liggett, 2005). Considering the critical roles of β-ARs in various functions of the sympathetic nervous system, one would assume that genetic variations that alter these receptors’ functions affect susceptibility to several diseases as well as drug response and toxicity. The Arg389Gly polymorphism is not considered a risk factor for cardiovascular disease, it seems to have a strong impact on the response of patients to therapeutic agents, with β-antagonists being more effective in wild-type homozygous Arg389 individuals (Ahles and Engelhardt, 2014)
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