Background: The beta(2)-adrenergic receptor (ADRB2) is the most common adrenergic receptor in the lung, and associations between ADRB2 polymorphisms and intermediate phenotypes of asthma have been reported. Four missense polymorphisms (Arg16Gly, Gln27Glu, Val34Met, and Thr164Ile) and one polymorphism in the 5' leader cistron of the ADRB2 messenger RNA has been identified. In vitro studies have shown that these missense polymorphisms can affect ADRB2 function.
Methods: To examine possible associations of ADRB2 polymorphisms with asthma susceptibility, we performed transmission disequilibrium tests (TDT) of 137 Japanese families identified through children with atopic asthma.
Results: We did not find associations between any alleles of the ADRB2 polymorphisms and asthma by TDT (p > 0.1). We also performed a meta-analysis of data from all available studies. The random-effects model showed no significant odds ratio for the Arg16Gln (odds ratio = 1.05, p = 0.53) or Gln27Glu (odds ratio = 1.12, p = 0.22) polymorphism.
Conclusion: Our data indicate that ADRB2 does not contribute substantially to susceptibility to asthma, but it is possible that these polymorphisms influence disease activity and drug responses in individuals with asthma.
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http://dx.doi.org/10.1159/000078648 | DOI Listing |
Cureus
November 2024
Department of Medicine and Surgery, University of Insubria, Varese, ITA.
Background: Obstructive sleep apnea syndrome (OSAS) is a chronic syndrome, affecting about 1%-5% of children. OSAS is characterized by increased resistance and collapse of the upper airways, with different degrees of severity requiring interventions ranging from lifestyle modifications to surgery. Sympathetic activity is increased in OSAS, and the reduction of disease symptoms, occurring after adenotonsillectomy, correlates with biomarkers indicating a reduced sympathetic response.
View Article and Find Full Text PDFAllergy
December 2024
Department of Pulmonary Medicine, AmsterdamUMC, University of Amsterdam, Amsterdam, The Netherlands.
Background: Long-acting beta2-agonists (LABA) in combination with inhaled corticosteroids (ICS) are commonly used to treat asthma, however, some children lack response to the addition of LABA. This might be partially due to the presence of the Arg16Gly polymorphism, encoded by rs1042713 G>A in the ADRB2 gene. Carrying the A allele (Arg16) at this variant has been associated with an increased risk of exacerbations despite LABA treatment.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdańsk, Poland.
This narrative review explores the relationship between genetics and elite endurance athletes, summarizes the current literature, highlights some novel findings, and provides a physiological basis for understanding the mechanistic effects of genetics in sport. Key genetic markers include R577X (muscle fiber composition), I/D (cardiovascular efficiency), and polymorphisms in , , and , influencing energy metabolism, angiogenesis, and cardiovascular function. This review underscores the benefits of a multi-omics approach to better understand the complex interactions between genetic polymorphisms and physiological traits.
View Article and Find Full Text PDFEndocrinol Diabetes Nutr (Engl Ed)
November 2024
Centre of Biodiversity and Sustainable Environments (CIBAS), Universidad Católica de la Santísima Concepción, Concepción, Chile. Electronic address:
Indian J Med Res
June 2024
Faculty of Medicine & Health Sciences, UCSI University, UCSI Hospital, Negeri Sembilan, Malaysia.
Background & objectives The results of the genetic association studies between the selected candidate genes and hypertension (HT) contradicted across different populations. Majority of the meta-analyses carried out did not consider population genetic ancestry as a confounding factor. Therefore, this meta-analysis attempted to consolidate and re-evaluate the findings of the association between the selected candidate variants (AGT-rs699, CYP11B2-rs1799998, ADRB2-rs1042713 and rs1042714) and HT, by categorizing the genotyping data based on known genetic ancestry, and/or major geographical populations.
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