Articles Related to Polymorphisms
Association of ACE I/D rs4646994 and ACE2 rs2285666 Receptor Gene Polymorphisms with SARS-CoV-2 Infection in Bangladeshi People
Covid-19 caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which hit the world
in December 2019 is one of the worst medical emergencies people have ever encountered. Human angiotensin I converting
enzyme 2 (ACE2) is the entry path of this virus to the host that regulates the renin-angiotensin-aldosterone system (RAAS).
Hypothesis: Susceptibility to SARS-CoV-2 infection may be affected by ACE rs4646994 and ACE2 rs2285666 polymorphisms.
The Presence of Minority HIV Drug Resistance Variants in The Protease and Gag Regions Confers Poor Response to Therapy Among Subtype A And D Patients
Objective: To determine the prevalence of minority drug resistance variants in the protease and Gag regions among patients failing a protease inhibitor (PI) based regimen with or without a susceptible genotype based on Sanger sequencing technology.
Methods: Samples were obtained from patients who were failing on a protease inhibitor-based regimen (n = 500). Sanger based sequencing was performed as part of the standard of care. Mutation analysis was performed using the Stanford HIV drug Resistance database. A subset of these patient samples was grouped into two categories: those failing a PI based with mutations in the protease region (n = 100) and those failing on a PI based regimen without mutations in the protease region (n = 128). These samples were then analyzed in the protease and Gag regions using Next Generation Sequencing (NGS) technology and analysis of the drug resistance mutations was performed at the 20% and 1% cutoffs.
Results: An initial analysis of the protease region for patients failing with drug resistance mutations revealed that most patients harbored mutations that confer resistance to Lopinavir and Atazanavir, but these mutations had little effect on Darunavir. Furthermore, NGS revealed that in patients failing with and without drug resistance mutations, minority drug resistance mutations were present at each of the drug resistance codons and at codons that confer multi-drug resistance to protease inhibitors. Further analysis of the Gag gene revealed more genetic diversity among patients failing with no mutations in the protease as evidenced by the proportion of polymorphisms at each codon.
Conclusion: Based on Sanger sequencing, a proportion of patients fail a PI based regimen with a susceptible genotype. However, these patients harbor minority variants in the protease and numerous polymorphisms in the Gag region which when combined these could explain their poor response to therapy. Therefore, in order to improve patient care in low resource settings, there is need to adapt NGS as the standard genotyping technique so that minority variants are captured much earlier. In addition, since mutations in the Gag region also play a role in response to PIs, this region should be included in the routine monitoring for response to therapy in patients on a PI based regimen.
Correlation of Hemostatic Parameters with Poly (ADP-ribose) Polymerase-1 (PARP-1) Polymorphisms, Mutations, Laboratory, and Clinical Characteristics in 114 Patients with Philadelphia-Negative Myeloproliferative Neoplasms
Patients with Philadelphia-negative myeloproliferative neoplasms (PN-MPN) are at a higher risk for venous thrombosis. Thromboelastometry may prove efficient to evaluate the patient’s thrombotic risk. In this study, based on data from
114 patients with PN-MPN from a single center in Greece, hemostatic profile was assessed with routine coagulation
tests, Rotational Thromboelastometry (ROTEM®
), and Platelet Function Analyzer (PFA)-100 and correlated with clinical,
laboratory, treatment characteristics, gene mutations and polymorphisms of poly (ADP-ribose) polymerase-1 (PARP-1)
Clinical Significance of microRNA Polymorphisms and Expression Profiles in Oral Cancer Development
MicroRNAs (miRNA) are potent regulators, controlling multiple biological processes, including cell growth, differentiation, cell death, development and immune responses. With emerging data supporting that miRNAs play a central role in gene dysregulation in human malignancies, unraveling the miRNA genetic variations in cancer is essential and critical if we want to develop better diagnostic and prognostic system for our patients.
Genetic Polymorphisms Associated with Risk of Developing Age-Related Macular Degeneration in Patients with Chronic Aspirin Usage
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population. Aspirin usage has been reported to be associated with an increased risk of developing this disease. This study aims to determine whether the increased risk of AMD with chronic aspirin usage is related to genetic polymorphisms in the Vascular Endothelial Growth Factor A (VEGFA) and Catechol-O-Methyltransferase (COMT) genes.
Relationship of YWHAH Single Nucleotide Polymorphisms to Markers of Rheumatoid Arthritis Disease Severity
Introduction: Serum 14-3-3 eta provides diagnostic and prognostic information in Rheumatoid Arthritis (RA). It is coded by the YWHAH gene with single nucleotide polymorphisms (SNPs) linked to bipolar disorder and schizophrenia. It was hypothesized that 6 previously described YWHAH SNPs might relate to markers of RA disease severity such as seropositivity or erosive changes.
Association study performed at an academic hospital Rheumatology Clinic. Subjects studied were 18 years of age or older with RA. TaqMan analysis screened for YWHAH SNPs rs2246704, rs2853884, rs3747158, rs4820059, rs7291050, rs933226. Primary endpoint was presence of at least one copy of the YWHAH SNPs with the markers of RA disease severity.
DNA Methylation Status of the Methylenetetrahydrofolate Reductase Gene is associated with Depressive Symptoms in Japanese Workers: A Cross-Sectional Study
Polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene, that is considered to be the most important genetic determinant of blood homocysteine concentration, are associated with various diseases, including psychiatric disorders. However, the epigenetic factors influencing on the transcription and expression of this gene are unclear.
Folic Acid Supplementation Reduced Depression Score in Young Japanese Women with Depression-susceptible Genetic Polymorphisms
Background: Observational studies have shown that low folate status induces depression. Here we studied the effects of folic acid supplementation on depression scores of Japanese women with depression-susceptible gene polymorphisms: methylenetetrahydrofolate reductase (MTHFR), serotonin transporter (5-HTT), and dopamine D4 receptor (DRD4).
Molecular Mechanisms of Mismatch Repair Genes in Cancer – A Brief Review
The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic
fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.
Editorial Board Members Related to Polymorphisms
Jurgen Konig
Professor
Department of Nutritional Sciences
University of Vienna
Austria
Department of Nutritional Sciences
University of Vienna
Austria