scholarly journals Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

2018 ◽  
Vol 07 (03) ◽  
pp. 103-113 ◽  
Author(s):  
Shilpa Bisht ◽  
Bhavna Chawla ◽  
Rima Dada
Keyword(s):  
Oxidative Stress ◽  
Case Control Study ◽  
Case Control ◽  
Mthfr Gene ◽  
Nucleotide Polymorphisms ◽  
Mthfr Polymorphisms ◽  
Sperm Dna ◽  
Increased Risk ◽  
Control Study

AbstractSperm DNA is considered as the most vulnerable to oxidative stress-induced damage that also impairs global sperm DNA methylation leading to sperm-associated pathologies. C677T and A1298C polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene affect MTHFR enzyme activity. This study was planned as a case–control study to determine the MTHFR gene polymorphisms in the fathers of children affected with sporadic nonfamilial heritable retinoblastoma in an Indian population. MTHFR polymorphisms for single nucleotide polymorphisms 677 and 1298 were also determined in sporadic nonfamilial heritable retinoblastoma patients to estimate the risk for retinoblastoma development and to evaluate the role of MTHFR in retinoblastoma pathogenesis.

scholarly journals Interaction between oxidative stress and smoking is associated with an increased risk of rheumatoid arthritis: a case-control study

Rheumatology ◽  
2012 ◽  
Vol 52 (3) ◽  
pp. 487-493 ◽  
Author(s):  
V. Navarro-Compan ◽  
E. Melguizo-Madrid ◽  
B. Hernandez-Cruz ◽  
K. Santos-Rey ◽  
C. Leyva-Prado ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Oxidative Stress ◽  
Case Control Study ◽  
Case Control ◽  
Increased Risk ◽  
Control Study

scholarly journals Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
A. Martinez-Hernandez ◽  
E. E. Perez-Guerrero ◽  
M. A. Macias-Islas ◽  
C. A. Nava-Valdivia ◽  
A. Villagomez-Vega ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Disease Progression ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Increased Risk ◽  
Vitamin D Levels ◽  
25 Oh Vitamin D ◽  
Control Study

Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D [25(OH) vitamin D] levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of CYP2R1 gene and rs10877012 SNP of CYP27B1 gene were genotyped by real-time PCR. Results. Serum 25(OH) vitamin D levels were lower in MS patients than in controls ( p = 0.009 ). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression ( p = 0.88 ). A higher frequency of the A allele of CYP2R1 rs10766197 was observed between MS patients and controls ( p = 0.05 ). No differences were observed in the frequency of T allele of CYP27B1 rs10877012 ( p = 0.65 ). In subanalysis, patients with GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS compared to controls ( p = 0.03 ). No increased risk was observed in GT + TT genotypes of CYP27B1 rs10877012 ( p = 0.63 ). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression. Conclusion. Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.

scholarly journals Role of Lipid and Oxidative Stress in Psoriatic Patients - A Case Control Study

2021 ◽  
Vol 10 (3) ◽  
pp. 132-136
Author(s):  
Roshan Kumar Jha ◽  
Akansha Singh ◽  
Priya Koundal ◽  
Ranjit Sidram Ambad
Keyword(s):  
Oxidative Stress ◽  
Case Control Study ◽  
Case Control ◽  
And Oxidative Stress ◽  
Control Study

Helicobacter Pylori Infection and the Risk of Myocardial Infarction: Role of Fibrinogen and Its Genetic Control

1999 ◽  
Vol 82 (07) ◽  
pp. 14-18 ◽  
Author(s):  
Francesco Zito ◽  
Augusto Di Castelnuovo ◽  
Andria D’Orazio ◽  
Riccardo Negrini ◽  
Domenico De Lucia ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Helicobacter Pylori ◽  
Risk Factor ◽  
Genetic Control ◽  
Case Control Study ◽  
Case Control ◽  
Increased Risk ◽  
Confounding Variables ◽  
Control Study

SummaryThe contribution of Helicobacter pylori (HP) infection to the risk of myocardial infarction was evaluated. The role of fibrinogen and its genetic control as a possibile mechanism by which HP may influence myocardial infarction risk was explored in this context. A case-control study was performed in 101 patients with myocardial infarction and in 101 controls.HP infection was associated with an increased risk of myocardial infarction independently for confounding variables (OR 4.1, CI95: 1.8-9.4). HP infection was significantly associated with higher levels of fibrinogen, both in cases and in controls. Furthermore, there was an additive effect of HP infection and B2 allele of BclI fibrinogen poly-morphism in increasing fibrinogen levels. HP infection showed a stronger effect on the risk of myocardial infarction in B2 allele carriers (OR 7.6, CI95: 1.8-31.6) as compared to subjects carrying the B1B1 genotype (OR 3.3, CI95: 1.2-9.2).We showed that a previous HP infection is a risk factor for myocardial infarction. An increase in fibrinogen levels is a possible mechanism by which HP may act. Concomitant conditions, like a genetic predisposition in increasing fibrinogen levels, seem to further increase the effect of HP on myocardial infarction risk.

scholarly journals Association of CYBA gene (-930 A/G and 242 C/T) polymorphisms with oxidative stress in breast cancer: a case-control study

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5509 ◽  
Author(s):  
Mohini A. Tupurani ◽  
Chiranjeevi Padala ◽  
Kaushik Puranam ◽  
Rajesh K. Galimudi ◽  
Keerthi Kupsal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Oxidative Stress ◽  
Case Control Study ◽  
Case Control ◽  
Breast Cancer Patients ◽  
Functional Polymorphisms ◽  
Increased Risk ◽  
Cancer Initiation ◽  
Control Study ◽  
Cyba Gene

Background Oxidative stress (OS) is a key characteristic feature in cancer initiation and progression. Among multiple cancers, NADPH oxidase (NOX) dependent free radical production is implicated in oxidative stress. P22phox, a subunit of NADPH oxidase encoded by the CYBA gene has functional polymorphisms associated with various complex diseases. The present study was aimed to examine the importance and association of the functional polymorphisms of CYBA gene (-930 A/G and 242 C/T) with the oxidative stress in breast cancer (BC) development and progression. Materials and Methods We have performed a case-control study on 300 breast cancer patients and 300 healthy individuals as controls to examine the role of CYBA gene -930 A/G and 242 C/T single nucleotide polymorphisms (SNPs) using As-PCR and PCR-RFLP assays and its association with OS as measured by plasma MDA levels. Linkage disequilibrium (LD) plots were generated using Haploviewtool and Multifactor dimensionality reduction (MDR) analysis was applied to assess high-order interactions between the SNPs. The Insilco analysis has been performed to predict the effect of SNPs on the gene regulation using online tools. Results We have found that genotype frequencies of CYBA gene -930 A/G and 242C/T polymorphism were significantly different between controls and BC patients (p < 0.05). The haplotype combination -930G/242C and -930G/242T were associated with 1.44 & 1.56 folds increased risk for breast cancer respectively. Further, the MDA levels were higher in the patients carrying -930G/242C and -930G/242T haplotype (p < 0.001). Our results have been substantiated by Insilco analysis. Conclusion Results of the present study suggest that GG genotype of -930 A/G polymorphism, -930G/242C and -930G/242T haplotypes of CYBA gene polymorphisms have shown association with higher MDA levels in breast cancer patients, signify that elevated oxidative stress might aid in increased risk for breast cancer initiation and progression.

scholarly journals SGCD a Novel Candidate Gene for Age-Related Macular Degeneration

2018 ◽  
Author(s):  
Andric Christopher Perez-Ortiz ◽  
Alexandra Luna-Angulo ◽  
Juan Carlos Zenteno ◽  
Alvaro Rendon ◽  
Liliana Guadalupe Cortes-Ballinas ◽  
...  
Keyword(s):  
Case Control Study ◽  
Retinal Disease ◽  
Case Control ◽  
Geographic Atrophy ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Age Related ◽  
Increased Risk ◽  
History Of ◽  
Control Study

1) Background: CFH and HTRA1 genes are traditional markers of increased risk of AMD across populations. Recent findings suggest that additional genes, for instance, in the dystrophin-associated protein complex might be promising markers for AMD. 2) Methods: Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of 134 cases with 134 unpaired controls. Cases were 60 years or older (CARMS grade 4-5, as assessed by experienced ophthalmologists following the AAO guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or RPE changes on fundus exam and negative family history of AMD. We examined SNPs in the SGCD gene: rs931798, rs140617, rs140616, and rs970476 by sequencing and RT-PCR. Genotyping quality check and univariate analyses were performed with PLINK v.1.9. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. 3) Results: After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% (1.81, 95%CI 1.06-3.14, p=0.031), especially the geographic atrophy phenotype (1.82, 95%CI 1.03-3.21, p=0.038) compared to the G/G homozygous. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (Adjusted OR 0.13, 95%CI 0.02-0.91, p=0.041). 4) Conclusions: SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted.

scholarly journals Oxidative Role of Aflatoxin B1 on the Liver of Wheat Milling Workers

2014 ◽  
Vol 2 (1) ◽  
pp. 141-146 ◽  
Author(s):  
Amal Saad-Hussein ◽  
Mohgah Sh. Abdalla ◽  
Wafaa Gh. Shousha ◽  
Gehan Moubarz ◽  
Aya H. Mohamed
Keyword(s):  
Oxidative Stress ◽  
Statistical Analysis ◽  
Vitamin C ◽  
Aflatoxin B1 ◽  
Crucial Role ◽  
Case Control Study ◽  
Liver Enzymes ◽  
Case Control ◽  
Control Study

Aim: The study aimed to estimate oxidative role of aflatoxin B1 (AFB1) on the liver in wheat milling workers. Materials and Methods: Case-control study was conducted to compare between the levels of AFB1/albumin (AFB1/alb), liver enzymes (ALT, AST, GGT, and ALP), P53, MDA, GST, SOD, zinc and vitamin C in 35 wheat milling workers and 40 control subjects. Results: Statistical analysis revealed that ALT, AST, GGT, ALP, P53, MDA, GST and SOD in workers were significantly elevated compared to their controls. In the milling workers, there were significant correlations between MDA levels and the levels of AST, GGT, and P53, while, P53 was inversely correlated with GST and SOD activities. There were significant correlations between Zn levels and GGT, GST and SOD activities, between vitamin C and GST activities, and vitamin C inversely correlated with MDA. Conclusion: The present study concluded that the oxidative stress of AFB1 elevated the MDA and the liver enzymes in wheat milling workers. GST has a crucial role in the detoxification of aflatoxin and SOD as a scavenger antioxidant increased in the workers to overcome the oxidative toxic effects of AFB1 on the liver of the workers, and roles of Zn and vitamin C were significant in activation of these processes.

scholarly journals S94 The role of oxidative stress and antioxidants in severe asthma; a case control study

Thorax ◽  
2015 ◽  
Vol 70 (Suppl 3) ◽  
pp. A53.2-A54
Author(s):  
A Bishopp ◽  
R Sathyamurthy ◽  
AH Mansur
Keyword(s):  
Oxidative Stress ◽  
Severe Asthma ◽  
Case Control Study ◽  
Case Control ◽  
Control Study

scholarly journals The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study

2019 ◽  
Author(s):  
Mohammad Mehdi Heidari ◽  
Amirhossein Danafar ◽  
Fahime Moezzi ◽  
Mehri Khatami ◽  
Ali Reza Talebi
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Recessive Model ◽  
Dominant Model ◽  
Sperm Dna Damage ◽  
Sperm Dna ◽  
Significant Difference ◽  
High Conservation ◽  
Control Study

Background: Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage. Objective: Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele. Materials and Methods: PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men. Results: The results of sequencing showed three variants at positions c.301C > T (p.R101C), c.391C > T (p.R131 W), and g.IVS1-26G >C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G >C SNP is higher than those who don’t have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR = 3.278, p = 0.000 and OR= 9.304, p = 0.038, respectively). Conclusion: Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G >C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear.

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