RESULTS:
1 - 3 of 3 for ""ADRB2""
Genetics of Polygenic Hypertension from Animal Models to Humans
Essential hypertension research faces daunting hurdles in gene identification and elucidating mechanisms underlying gene-gene interactions and genome regulations. Recent discoveries in experimental models of polygenic hypertension have revealed the genetic architecture and a functional hierarchy of genes influencing BP. These findings are potentially shedding new conceptual lights on complex genetic mechanisms controlling essential hypertension. Seemingly ‘conflicting’ results in association studies of candidate genes with essential hypertension may be interpreted by their inherent genetic property of population specificity. A lack of detection of genes demonstrating major BP effects may be attributed to the masking and compounding effects of genetic heterogeneity among other factors present among human subjects. The future research can be greatly benefited from combining animal model studies with human population-based analyses i.e. translating the discovery in experimental models into humans and conversely validating human findings via animal model investigations.
Polymorphisms in TOLL-Like Receptor Genes and their Roles in Allergic Asthma and Atopy
Allergic asthma is a chronic inflammatory disease of the lung airways caused by genetic and environmental factors. Two quantifiable phenotypes of this disease are airway hyperresponsiveness and atopy. TOLL-like receptors (TLRs) are a family of intracellular and cell surface receptors that can respond to pathogen associated molecular patterns involved in the pathogenesis of asthma. Macrophages one of the main immune cells involved in asthma express a variety of TLRs including TLR2 4 5 6 7 8 and 9. This review focuses on polymorphisms found in TLR genes expressed in macrophages and their role in asthma. Human studies have detected polymorphisms in TLR genes associated with asthma phenotypes and studies using murine models have shown that some receptors and their agonistic or antagonistic ligands are capable of modulating the cytokine profile in asthmatics in a protective manner. Therefore certain receptors and their ligands are being explored as potential immunotherapies for asthma. Recently several patents have been filed protecting inventions for treating asthma through the use of TLRs and their ligands.
A Method for Predicting Allelic Variants of Single Nucleotide Polymorphisms
Single nucleotide polymorphisms (SNPs) are pivotal in clinical genetics serving to link genotypes with disease susceptibility and response to environmental factors including pharmacogenetics. They also play a crucial role in population genetics for mapping the human genome and localizing genes. Despite their utility challenges arise when molecular genetic studies yield insufficient or uninformative data particularly for socially significant diseases. This study aims to address these gaps by proposing a method to predict allelic variants of SNPs.
Using quantitative PCR and analyzing body composition data from 150 patients with their voluntary informed consent we employed IBM SPSS Statistics 29.0 for data analysis. Our prototype formula exemplified by allelic variant ADRB2 (rs1042713) = 0.257 + 0.639 * allelic variant ADRB2 (rs1042714) - 0.314 * allelic variant ADRB3 (rs4994) + 0.191 * allelic variant PPARA (rs4253778) - 0.218 * allelic variant PPARD (rs2016520) + 0.027 * body weight + 0.00001 * body weight2 demonstrates the feasibility of predicting SNP allelic variants.
This method holds promise for diverse diseases including those of significant social impact due to its potential to streamline and economize molecular genetic research. Its ability to stratify disease risk in the absence of complete SNP data makes it particularly compelling for clinical and laboratory geneticists.
However its translation into clinical practice necessitates the establishment of a comprehensive SNP database especially for frequently analyzed SNPs within the implementing institution.