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Integrated Omics Technology for Basic and Clinical Research
Published in Jyoti Ranjan Rout, Rout George Kerry, Abinash Dutta, Biotechnological Advances for Microbiology, Molecular Biology, and Nanotechnology, 2022
Kuldeep Giri, Vinod Singh Bisht, Sudipa Maity, Kiran Ambatipudi
PGx, also known as drug-gene testing, helps to understand an individual’s genetic code (genetic makeup) to predict responsiveness to drugs (adverse or favorable), efficacy, and metabolism based on gene polymorphism. The main goal of PGx is to understand a drug’s pharmacokinetics and pharmacodynamics. Pharmacokinetics surrounds four essential processes, that is, absorption, distribution, metabolism, and excretion from the patient’s body. Similarly, pharmacodynamics deals with the drug’s molecular action on receptors, ion channels, enzymes, and immune systems (Adams, 2008). Although in early stage, PGx has brought a revolution in the health sector by aiming to provide a tailored-made medication based on an individual’s specific genetic construction. The joint effort of pharmacology that deals with drug design and genomics has offered a comprehensive evaluation of genes and related functions leading to the evolution of PGx. The term PGx is sometimes interchangeably used as pharmacogenetics, with the latter focusing on single gene-drug response, whereas the former focusing on more than one gene-drug response including epigenetics and polymorphism within the gene.
Associations between Genetic Polymorphisms and Heart Rate Variability
Published in Herbert F. Jelinek, David J. Cornforth, Ahsan H. Khandoker, ECG Time Series Variability Analysis, 2017
Anne Voigt, Jasha W. Trompf, Mikhail Tamayo, Ethan Ng, Yuling Zhou, Yaxin Lu, Slade Matthews, Brett D. Hambly, Herbert F. Jelinek
TCF7L2 is a DNA-binding transcription factor that plays an important role in canonical Wnt signaling by binding β-catenin. Wnt signaling has defined roles in determining cell fate, survival, proliferation, and movement, and has a recognized function in embryonic development as well as carcinogenesis (Savic et al. 2011). Furthermore, and with particular importance to diabetes, Wnt signaling attenuates the synthesis of GLP-1 by intestinal L cells. GLP-1 is insulinotropic and also mimics insulin in glucose regulation, energy homeostasis, and food intake. Consequently, it is proposed that TCF7L2 gene variants may predispose individuals to T2DM by indirectly altering GLP-1 levels. Indeed, TCF7L2 polymorphisms are correlated with impaired GLP-1-induced insulin secretion and pancreatic β-cell function (Loos et al. 2007; Boccardi et al. 2010). However, direct links between HRV and this gene polymorphism have not yet been reported.
Major Histocompatibility Complex and Autoimmune Disease
Published in Richard K. Burt, Alberto M. Marmont, Stem Cell Therapy for Autoimmune Disease, 2019
Ursula Holzer, Gerald T. Nepom
When considering an association of autoimmune diseases and HLA class II polymorphism, it is often considered whether other genes in the class II region may be involved in the pathogenesis of some of these diseases. TAP1 and TAP2 genes are localized in the class II region between HLA-DP and HLA-DQ,2 and TAP gene polymorphism may influence the specificity of peptides preferentially presented by the MHC molecules and the outcome of the immune response.11 Whereas some groups find an association of particular TAP alleles with autoimmunity e.g., with systemic lupus erythematosus (SLE) or rheumatoid arthritis,14,13 others do not.14,15
Influence of chitotriosidase gene polymorphisms on oxidative stress and susceptibility to Aspergillus infection among exposed workers
Published in International Journal of Environmental Health Research, 2022
Gehan Moubarz, Wafaa G Shousha, Amal Saad-Hussein, Michael M. Shawky, Shiamaa Shawky
For CHIT1 gene polymorphism detection, DNA was extracted from the whole blood sample using the genomic DNA purification kit (Gene JET™/Fermentas). The CHIT1 gene polymorphism was determined through PCR amplification of the gene. The PCR reaction mixtures (25 μl) contained 5 μl of extracted DNA, 12.5 μl of Dream Tag Green PCR master mix (2X), 2 μl of forward primer (0.4 μM), 2 μl of reverse primer (0.4 μM), and nuclease-free water to bring the final volume of the reaction to 25 μl. The PCR conditions were: initialization at 94°C for 5 min, DNA amplification for 30 cycles of denaturation at 94°C for 30 s, annealing at 55°C for 45 s, extension at 72°C for 1 min, and final elongation at 72°C for 5 min in an automated thermal cycler. The primers used for gene amplification were 5′-GAAGAGGTAGCCAGGCTCTGG-3′ and 5′-CTGCCGTAGCGTCTGGATGAG-3′. The PCR products were then resolved by electrophoresis on a 2% agarose gel, stained with ethidium bromide and photographed under UV light. Individuals carrying the wild-type CHIT1 allele possessed a 195-bp fragment, whereas those carrying the mutant CHIT1 allele possessed a 219-bp fragment (Lee et al. 2007).
Systems toxicology approach explores target-pathway relationship and adverse health impacts of ubiquitous environmental pollutant bisphenol A
Published in Journal of Toxicology and Environmental Health, Part A, 2022
Manigandan Nagarajan, Gobichettipalayam Balasubramaniam Maadurshni, Jeganathan Manivannan
In case of BPA disease targets, the Online Mendelian Inheritance in Man (OMIM) diseases indicated occurrence of hypertension as evidenced by alterations in phenylethanolamine n-methyltransferase (PNMT), nitric oxide synthase 3 (NOS3) and nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene polymorphism (NR3C2). Thids gene catalyzes production of nitric oxide (NO) in the endothelium and its deficiency leads to alterations in NO metabolism and pathogenesis of hypertension (Zintzaras, Kitsios, and Stefanidis 2006). In this regard, Zhang et al. (2012) observed significant associations with NOS3 variants and coronary heart disease (CHD) and heart failure associated with significant pharmacogenetic effects for stroke and all-cause mortality. Subsequently, the gene polymorphism is known to be associated with risk of gestational hypertension in Han Chinese women (Cui, Xu, and Jiang 2019). Further, a study using genetic model of hypertension reported novel molecular mechanisms involved in the dysregulation of cardiac, the terminal enzyme in the catecholamine biosynthetic pathway that is responsible for adrenaline biosynthesis (Peltsch et al. 2016).
Human leucocyte antigen – G gene polymorphism in laryngeal squamous cell carcinoma patients in Mansoura University Hospitals
Published in Egyptian Journal of Basic and Applied Sciences, 2021
Ghada Barakat, Asser Elsharkawy, Yasmin Nabiel
HLA-G 14bp deletion allele may act as one of the risk factors for laryngeal carcinoma as there was a statistical significance for our results when compared to the control group (p = <0.001*, OR = 2.74 & 95% CI =1.78–4.21). The study results are in concordance with some researches that had dealt with different types of cancers like hepatocellular carcinoma [34] and renal cell carcinoma [37]. In an Egyptian study that tested the association between Non-Hodgkin lymphoma and the HLA-G 14bp gene polymorphism, its results suggested that HLA-G 14bp ins/del gene polymorphism was a risk factor for such malignancy in the Egyptian population and was associated with poor clinical pathological features [38].