Articles Related to Polymorphism
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.
Leptin Receptor Gene Variant Rs1137101 and Ghrelin Gene Variant Rs696217 are Associated with Body Mass Index in Brazilian Population: A Case-Control Study
Introduction: Obesity is a multifactorial condition influenced by environment and genetic factors. Controlling appetite
and satiety involves complex interactions between the hypothalamus, which is responsible for homeostasis regulation
energy, and hormones that regulate appetite including leptin and ghrelin. Leptin plays an important role in the regulation
of food intake and energy expenditure, generating an increase in energy burning and decreasing food intake. And ghrelin
is directly involved in the regulation of short-term energy balance.
Objectives: To verify frequency, biochemical profile and Body Mass Index (BMI) variations according to SNPs in LEPR
and GHRL gene.
Subjects and Methods: 163 both genders subjects were classified into Study Group (SG): 103 subjects with obesity; Control Group (CG): 60 non-obese. Blood samples were collected to perform DNA extraction and biochemical profile analysis. Statistical significance was established at p < 0.05.
Results: The genotype and allele frequency were similar between groups for both polymorphisms. The _/A genotype of
the GHRL rs696217 polymorphism was associated to increased BMI in SG compared CG (p = 0.003) and increased triglycerides (TG) and very low density lipoprotein (VLDLc) values in CG (p < 0, 05). The _/A genotype was also associated
with increased fasting glucose compared to CC genotype only in CG (p = 0.031). Considering the LEPR rs1137101 polymorphism, AA genotype subjects presented higher BMI compared to _/G genotype subjects (p = 0.024). No difference
between biochemical profile variables related to LEPR rs1137101 polymorphism was found.
Conclusion: AA genotypes of the LEPR rs1137101 polymorphism and _/A of the GHRL rs696217 polymorphism suggest
being risk factors for BMI and the latter is associated with fasting glucose, VLDLc and TG variation.
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.
Association between Insertion/Deletion Polymorphism of ApoB Gene with Dyslipidemia and Obesity Risk in Patients with Type 2 Diabetes
Several studies have suggested that Insertion/Deletion polymorphism of ApoB gene is associated with obesity, dyslipidemia, diabetes and coronary heart disease (CHD).
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.
Lead (Pb) Toxicity Trigger Schizophrenia in Battery Workers of North Region of India
Total production of Pb acid batteries in India is about 8 million per year and nearly 10,000 Kg of Pb is consumed in the production of batteries.
Mthfr c677t, Homocysteine and Risk of Splanchnic Vein Thrombosis: A Pooled Analysis of Published Epidemiological Studies
This meta-analysis aimed to comprehensively assess the literature examining a possible link between the methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation and homocysteine and the risk of splanchnic vein thrombosis (SVT).
Osteomyelitis of the Hip secondary to Aspergillus fumigatus - A Case Report and Comprehensive Review of the Literature
Aspergillus infection in an immunocompetent human host is a rare entity. In most cases it presents as an opportunistic pathogen in immunocompromised patients. The portal of entry is usually the respiratory tract or direct inoculation of the organism to the site. Aspergillus osteomyelitis is a debilitating and severe form of Invasive Aspergillosis.
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.
