scholarly journals No Association ofIFNG+874T/ASNP andNOS2A-954G/CSNP Variants with Nitric Oxide Radical Serum Levels or Susceptibility to Tuberculosis in a Brazilian Population Subset

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Ana Cristina C. S. Leandro ◽  
Márcia Andrade Rocha ◽  
Andreia Lamoglia-Souza ◽  
John L. VandeBerg ◽  
Valeria Cavalcanti Rolla ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Nitric Oxide Radical ◽  
Study Population ◽  
Host Genetic ◽  
Nitric Oxide Synthase 2 ◽  
Oxide Synthase ◽  
Control Study

Tuberculosis (TB) is one of the most common infectious diseases in the world.Mycobacterium tuberculosisinfection leads to pulmonary active disease in approximately 5–10% of exposed individuals. Both bacteria- and host-related characteristics influence latent infection and disease. Host genetic predisposition to develop TB may involve multiple genes and their polymorphisms. It was reported previously that interferon gamma (IFN-γ) and nitric oxide synthase 2 (NOS2) are expressed on alveolar macrophages from TB patients and are responsible for bacilli control; thus, we aimed this study at genotyping single nucleotide polymorphismsIFNG+874T/ASNP andNOS2A-954G/CSNP to estimate their role on TB susceptibility and determine whether these polymorphisms influence serum nitrite andNOx-production. This case-control study enrolled 172 TB patients and 179 healthy controls. Neither polymorphism was associated with susceptibility to TB.NOS2A-954G/CSNP was not associated with serum levels of nitrite andNOx-. These results indicate that variants ofIFNG+874T/ASNP andNOS2A-954G/CSNP do not influence TB susceptibility or the secretion of nitric oxide radicals in the study population.

scholarly journals Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Preeclampsia in Maya Mestizo Women

2011 ◽  
Vol 31 (2) ◽  
pp. 83-89 ◽  
Author(s):  
Lizbeth Díaz-Olguín ◽  
Ramón Mauricio Coral-Vázquez ◽  
Thelma Canto-Cetina ◽  
Samuel Canizales-Quinteros ◽  
Belem Ramírez Regalado ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Pairwise Linkage Disequilibrium ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
Intron 4 ◽  
Control Study

Preeclampsia is a specific disease of pregnancy and believed to have a genetic component. The aim of this study was to investigate if three polymorphisms ineNOSor their haplotypes are associated with preeclampsia in Maya mestizo women.A case-control study was performed where 127 preeclamptic patients and 263 controls were included. Genotyped and haplotypes for the -768T→C, intron 4 variants, Glu298Asp ofeNOSwere determined by PCR and real-time PCR allelic discrimination. Logistic regression analysis with adjustment for age and body mass index (BMI) was used to test for associations between genotype and preeclampsia under recessive, codominant and dominant models. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlationr2, and haplotype analysis was conducted.Women homozygous for the Asp298 allele showed an association of preeclampsia. In addition, analysis of the haplotype frequencies revealed that the -786C-4b-Asp298 haplotype was significantly more frequent in preeclamptic patients than in controls (0.143 vs. 0.041, respectively; OR = 3.01; 95% CI = 1.74–5.23;P= 2.9 × 10−4).Despite the Asp298 genotype in a recessive model associated with the presence of preeclampsia in Maya mestizo women, we believe that in this population the -786C-4b-Asp298 haplotype is a better genetic marker.

scholarly journals Molecular Investigation of Association Among Common IL-6 Polymorphism with Cytomegalovirus(CMV) Infection and Recurrent Miscarriage in Iranian Women

2021 ◽  
Author(s):  
Parisa Pourroostaei Ardakani ◽  
Bahareh Rahimi ◽  
Mohammad Panahi ◽  
Babak Karimian ◽  
Hamzeh Rahimi
Keyword(s):  
Recurrent Miscarriage ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Iranian Women ◽  
Cmv Infection ◽  
Single Nucleotide ◽  
Host Genetic ◽  
Control Study ◽  
Healthy Females

Abstract Background: Recurrent pregnancy loss (RPL) is described as two or more spontaneous abortions. Until now, although various factors such as genetic, endocrinology, anatomy, immunology, and microbiology have been distinguished that affect abortions, the precise basic etiology in up to 50% of RPL cases are not determined. Human cytomegalovirus (CMV) infection and host genetic background, like IL-6 SNP polymorphisms play important roles in RPL etiology. Objective: This study aimed to evaluate relationship among single nucleotide polymorphisms (-634C/G and -174 G/C) in the IL-6 gene with CMV infection and risk of RPL for early detection and treatment of RPL. Materials and methods: This case-control study was carried on 80 Iranian females with RPL and 80 healthy females as control group. The extraction of DNA from samples and detection of CMV and IL6 SNPs were determined by Tetra ARMS-PCR. Finally, the statistical analysis for detection CMV and two polymorphisms roles in RPL were analyzed by Epi Info TM software by X2 test. Results: Our results indicated an increased rate of CMV infection in RPL group (44%) versus the control group (25.45%). Also, the prevalence of IL-6 -634C/G genotype among RPL patients with CMV infection was 80%, while the frequency of this genotype among RPL patients without CMV infection was 50%. Furthermore, no substantial relation was found between IL-6 -174 G/C genotypes and RPL (P ≤0.0001). BesidesConclusion: This study not only indicated a significant role of CMV in RPL, but also showed CMV association with allele G in IL6 -634 among Iranian women. In addition, suggested the use of CMV and IL-6 -634 GG genotypes in RPL as diagnostic and prognostic biomarkers in Iranian population.

scholarly journals Association of rs699947 (−2578 C/A) and rs2010963 (−634 G/C) Single Nucleotide Polymorphisms of the VEGF Gene, VEGF-A and Leptin Serum Level, and Cardiovascular Risk in Patients with Excess Body Mass: A Case–Control Study

2020 ◽  
Vol 9 (2) ◽  
pp. 469 ◽  
Author(s):  
Damian Skrypnik ◽  
Adrianna Mostowska ◽  
Paweł Piotr Jagodziński ◽  
Paweł Bogdański
Keyword(s):  
Serum Level ◽  
Body Mass ◽  
Case Control Study ◽  
Serum Levels ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Serum Concentrations ◽  
Vegf Gene ◽  
Single Nucleotide ◽  
Control Study

Background: Two single nucleotide polymorphisms (SNPs) of the VEGF gene, rs699947 and rs2010963, are responsible for differentiated gene expression. A mutual dependence between VEGF and leptin serum level has been observed. This study investigated the associations between the rs699947 and rs2010963 SNPs of VEGF gene, VEGF-A, and leptin serum concentrations, and cardiometabolic risk of body mass excess. Methods: In this case–control study, 212 subjects with excess body mass and 145 normal-weight controls gave blood samples and underwent anthropometric and pulse wave analysis. Genotyping of VEGF gene was carried out to analyze the rs699947 (−2578 C/A) and rs2010963 (−634 G/C) SNPs. (ClinicalTrials.gov ID: NCT04077554). Results: This study showed a significant positive correlation between serum levels of VEGF-A and leptin in individuals with excess body mass possessing the CC genotype of the rs699947 variant of the VEGF gene. It has been registered that an increase in VEGF-A serum level correlates with an increase in arterial stiffness in excess body mass patients harboring AA genotype of the rs699947 (−2578 C/A) variant of the VEGF gene. No differences in VEGF-A and leptin serum concentrations were noted between particular genotypes. Conclusions: The CC genotype of the rs699947 variant of the VEGF gene promotes a positive interdependency between leptin and VEGF-A serum levels in subjects with excess body mass.

scholarly journals Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Félix Javier Jiménez-Jiménez ◽  
Blanca G. Agúndez ◽  
Javier Gómez-Tabales ◽  
Hortensia Alonso-Navarro ◽  
Laura Turpín-Fenoll ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Family History ◽  
Restless Legs Syndrome ◽  
Endothelial Nitric Oxide Synthase ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Allelic Variants ◽  
History Of ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

Because nitric oxide and endothelial dysfunction could play a role in the pathogenesis of idiopathic restless legs syndrome (RLS), as was suggested by some preliminary data, we investigated the possible association between the rs2070744 variants in the endothelial nitric oxide synthase (eNOS or NOS3) gene (chromosome 7q36.1) and the risk for RLS in a Caucasian Spanish population. We assessed the frequencies of NOS3 single nucleotide polymorphisms (SNPs) rs2070744, rs1799983, and rs79467411 genotypes and allelic variants in 273 patients with idiopathic RLS and 325 healthy controls using a TaqMan-based qPCR assay. We also analyzed the possible influence of genotype frequency on age at onset of RLS symptoms, gender, family history of RLS, and response to drugs commonly used in the treatment of RLS such as dopaminergic drugs, clonazepam, and GABAergic drugs. The frequencies of genotypes and allelic variants were not associated with the risk for RLS and were not influenced by gender, age, and positive family history of RLS. We identified weak statistical associations of the SNP rs1799983 with the response to dopamine agonists (Pc = 0.018 for the rs1799983 G/T genotype) and of the SNP rs79467411 with the response to clonazepam (Pc = 0.018 for the rs79467411 G allele), although these findings should be cautiously interpreted and require further confirmation. These associations aside, our findings suggest that common NOS3 SNPs are not associated with the risk for idiopathic RLS in Caucasian Spanish people.

scholarly journals Association of Nitric Oxide Synthase and Matrix Metalloprotease Single Nucleotide Polymorphisms with Preeclampsia and Its Complications

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0136693 ◽  
Author(s):  
Daniela P. Leonardo ◽  
Dulcinéia M. Albuquerque ◽  
Carolina Lanaro ◽  
Letícia C. Baptista ◽  
José G. Cecatti ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Nitric Oxide Synthase ◽  
Single Nucleotide Polymorphisms ◽  
Matrix Metalloprotease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Oxide Synthase
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