scholarly journals A Case-control Study on the Association of Mitochondrial Transcription Factor a Gene +35G/C Polymorphism and Mitochondrial DNA Copy Number with the Risk of Endometriosis in Indian Women

2021 ◽  
pp. 60-67
Author(s):  
Himabindu Beeram ◽  
Tumu Venkat Reddy ◽  
Suresh Govatati ◽  
Swapna Siddamalla ◽  
Mamata Deenadayal ◽  
...  
Keyword(s):  
Copy Number ◽  
Case Control Study ◽  
Case Control ◽  
Mtdna Copy Number ◽  
Chain Reaction ◽  
Indian Women ◽  
Mitochondrial Transcription Factor ◽  
Mitochondrial Transcription Factor A ◽  
Polymerase Chain ◽  
Control Study

Aim: The Mitochondrial transcription factor A (TFAM) and mitochondrial (mt) DNA copy number variations are known to contribute in disease development. Genetic factors play an important role in the development of endometriosis. Therefore, this case–control study aimed to analyze the association of TFAM+35G/C polymorphism and mitochondrial copy number with the risk of endometriosis in Indian women. Study Design: This study was carried out on 418 subjects including 200 endometriosis cases and 218 controls. Methodology: Genotyping of TFAM +35G/C polymorphism (rs1937) was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Quantification of mtDNA copy number was carried out using a real time quantitative polymerase chain reaction (qRT-PCR). Place and Duration of Study: Department of Biochemistry, Osmania University, 2014 to 2020. Results: TFAM genotype as well as allele distributions were all in Hardy-Weinberg equilibrium. The results indicated a significant reduction of GG genotype frequency (P=0.009), high ‘C’ allele frequency (P=0.017) and significantly decreased mtDNA copy number in endometriosis cases compared to controls (P= 0.0001). Conclusion: Present study revealed a statistically significant association of decreased GG genotype of TFAM +35G/C polymorphism and mtDNA copy number with the risk of developing endometriosis in Indian women.

Analysis of glutathione S-transferase genes polymorphisms and the risk of schizophrenia in a sample of Iranian population

2011 ◽  
Vol 7 (2-4) ◽  
pp. 199-203 ◽  
Author(s):  
Farah Lotfi Kashani ◽  
Dor Mohammad Kordi-Tamandani ◽  
Roya Sahranavard ◽  
Mohammad Hashemi ◽  
Farzaneh Kordi-Tamandani ◽  
...  
Keyword(s):  
Genomic Dna ◽  
Case Control Study ◽  
Gene Interaction ◽  
Case Control ◽  
Glutathione S Transferase ◽  
Chain Reaction ◽  
Healthy Control ◽  
Glutathione S Transferases ◽  
Polymerase Chain ◽  
Control Study

Glutathione S-transferases (GSTs) are major intracellular antioxidants, which, impaired in their function, are involved in the progress of schizophrenia (SCZ). The aim of this case-control study was to investigate the association between the polymorphism of glutathione S-transferases M1 (GSTM1), T1 (GSTT1), the glutathione S-transferase P1 gene (GSTP1) and SCZ. We isolated genomic DNA from peripheral blood of 93 individuals with SCZ and 99 healthy control subjects' genotypes analyzing them for GSTM1, GSTT1 and GSTP1 using polymerase chain reaction. The analysis of the gene–gene interaction between GSTs indicated that the magnitude of the association was greater for the combined AG/GSTT1 & GSTM1 genotypes (OR = 2.51; 95% CI: 1.13–5.63, P = 0.02). The AG and combined AG + GG genotypes of GSTP1 increased the risk of SCZ (OR = 1.83; 95% CI: 0.94–3.75 and OR = 1.71; 95% CI: 0.92–3.19, respectively). The genotypes of GSTT/NULL, NULL/GSTM and NULL/NULL increased the risk of SCZ (OR = 2.05; 95% CI: 0.9–4.74; OR = 2.0; 95% CI: 1.68–2.31; and OR = 1.8; 95% CI: 0.57–2.46, respectively). The present study supports previous data that suggest that impairment in the function of GSTs genes may increase the risk of SCZ.

scholarly journals Acute‐onset smell and taste disorders in the context of COVID‐19: a pilot multicentre polymerase chain reaction based case–control study

2020 ◽  
Vol 27 (9) ◽  
pp. 1738-1741 ◽  
Author(s):  
Á. Beltrán‐Corbellini ◽  
J. L. Chico‐García ◽  
J. Martínez‐Poles ◽  
F. Rodríguez‐Jorge ◽  
E. Natera‐Villalba ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Case Control Study ◽  
Case Control ◽  
Acute Onset ◽  
Chain Reaction ◽  
Taste Disorders ◽  
Polymerase Chain ◽  
Control Study

scholarly journals Frequency of HLA-DRB1 Gene Alleles in Patients With Multiple Sclerosis in a Lithuanian Population

Medicina ◽  
2012 ◽  
Vol 48 (1) ◽  
pp. 2
Author(s):  
Renata Balnytė ◽  
Daiva Rastenytė ◽  
Dalia Mickevičienė ◽  
Antanas Vaitkus ◽  
Erika Skrodenienė ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Control Study ◽  
Case Control ◽  
Chain Reaction ◽  
Female Patients ◽  
History Of ◽  
Male Patients ◽  
Polymerase Chain ◽  
The Relationship ◽  
Control Study

The aim of the present study was to investigate the influence of HLA-DRB1 alleles on the genetic susceptibility to multiple sclerosis in the Lithuanian population. Material and Methods. A total of 120 patients with multiple sclerosis and 120 unrelated healthy controls were enrolled in this case-control study. Allelic frequencies were compared between the groups. HLA-DRB1 alleles were genotyped using the polymerase chain reaction. Results. HLA-DRB1*15 was present in 55.8% of the patients with multiple sclerosis and 10.0% of the controls (OR, 5.58; 95% CI, 3.19–9.77; P<0.0001). The protective alleles that were found to be more prevalent among the controls compared with the patients with multiple sclerosis were HLADRB1* 01 (26.7% vs. 7.5%, P<0.0001), *03 (17.5% vs. 8.3%, P=0.034), and *16 (11.7% vs. 3.3%, P=0.014). HLA-DRB1*15 was more common among the female patients with multiple sclerosis than among the male patients (68.4% vs. 34.1%; OR, 4.18; 95%, CI 1.90–9.22; P=0.001). The heterozygous inheritance of HLA-DRB1*15 allele was more common in the patients with a history of maternal multiple sclerosis than in those with a history of paternal multiple sclerosis (29.4% vs. 9.8%; P=0.045). Conclusions. HLA-DRB1*15 was found to be associated with multiple sclerosis in the Lithuanian population. This allele was more prevalent among the female patients with multiple sclerosis. Maternal multiple sclerosis was more common than paternal multiple sclerosis, but the relationship with HLA-DRB1*15 allele was not established. HLA-DRB1*01, *03, and *16 appeared to be the protective alleles in this series.

Detection of parvovirus B19 DNA by polymerase chain reaction in giant cell arteritis: A case-control study

2002 ◽  
Vol 46 (11) ◽  
pp. 3099-3101 ◽  
Author(s):  
Carlo Salvarani ◽  
Enrico Farnetti ◽  
Bruno Casali ◽  
Davide Nicoli ◽  
Liu Wenlan ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Case Control Study ◽  
Parvovirus B19 ◽  
Case Control ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Control Study

Serotypes of Streptococcus pneumoniae in Children Aged <5 Years Hospitalized With or Without Pneumonia in Developing and Emerging Countries: A Descriptive, Multicenter Study

2019 ◽  
Author(s):  
Cédric Dananché ◽  
Gláucia Paranhos-Baccalà ◽  
Mélina Messaoudi ◽  
Mariam Sylla ◽  
Shally Awasthi ◽  
...  
Keyword(s):  
Streptococcus Pneumoniae ◽  
Outpatient Care ◽  
Case Control Study ◽  
Case Control ◽  
Emerging Countries ◽  
Nasopharyngeal Carriage ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Study Sites ◽  
Control Study

Abstract Background Improving knowledge regarding Streptococcus pneumoniae distribution in pneumonia cases is important to better target preventive and curative measures. The objective was to describe S. pneumoniae serotypes in children with or without pneumonia Methods It was a case-control study carried out in 8 developing and emerging countries between 2010 and 2014. Cases were children aged <5 years admitted to the hospital for pneumonia. Controls were children admitted for surgery or routine outpatient care. Results In nasopharyngeal samples, S. pneumoniae were detected in 68.2% of the cases and 47.5% of the controls (P < .001). Nasopharyngeal carriage was associated with a higher risk of being a case in 6/8 study sites (adjusted odds ratio ranged from 0.71 [95% confidence interval [CI], .39–1.29; P = .26] in India [Pune/Vadu] to 11.86 [95% CI, 5.77–24.41; P < .001] in Mongolia). The 13-valent pneumococcal conjugate vaccine (PCV13) serotypes were more frequently detected in cases with nasopharyngeal carriage (67.1%) than in controls with nasopharyngeal carriage (54.6%), P < .001. Streptococcus pneumoniae was detected in blood by polymerase chain reaction in 8.3% of the cases. Of 34 cases with an S. pneumoniae serotype detected in blood, 27 (79%) had the same serotype in the nasopharyngeal sample. Conclusions The results confirm the assumption that the isolate carrying or causing disease in an individual is of the same serotype. Most serotypes independently associated with nasopharyngeal carriage or pneumonia are covered by PCV13, suggesting that increased PCV coverage would reduce the burden of S. pneumoniae–related pneumonia.

scholarly journals Increased Expression of ERCC2 Gene in Head and Neck Cancer is Associated with Aggressive Tumors: A Systematic Review and Case-Control Study

2016 ◽  
Vol 31 (1) ◽  
pp. 17-25 ◽  
Author(s):  
Maryam Zafeer ◽  
Ishrat Mahjabeen ◽  
Mahmood Akhtar Kayani
Keyword(s):  
Systematic Review ◽  
Polymerase Chain Reaction ◽  
Head And Neck ◽  
Case Control Study ◽  
Expression Patterns ◽  
Case Control ◽  
Chain Reaction ◽  
Ki 67 ◽  
Polymerase Chain ◽  
Control Study

Introduction The excision repair cross-complementation group 2 (ERCC2) ATP-dependent helicase is an essential member of the DNA repair pathway. It has been observed to be differentially expressed in different cancers, which shows its involvement in carcinogenesis. Aim In the present study we have tried to determine the association of expression patterns of this gene with head and neck carcinogenesis. Method We first carried out a systematic review of the available studies on the role of ERCC2 in head and neck cancer (HNC). In order to test the hypothesis that the expression patterns of XPD/ERCC2 play a critical role in HNC pathogenesis, we then conducted a population based case-control study on 81 head and neck tumor samples and adjacent normal-tissue control samples. Reverse transcriptase polymerase chain reaction (RT-PCR) and quantitative polymerase chain reaction (qPCR) were used to assess ERCC2 deregulation at the mRNA level. Result Expression analysis showed that the ERCC2 expression level was significantly upregulated (p<0.05) in HNC tissues compared with adjacent normal tissues. Furthermore, the expression pattern of ERCC2 was correlated with the expression pattern of Ki-67 and a significant correlation (r = 0.230, p<0.03) was observed between ERCC2 and Ki-67. Spearman's correlation also showed a significant correlation between ERCC2 expression and tumor stage (r = 0.271, p<0.02) and grade (r = 0.228, p<0.02) of HNC. Conclusions Our data suggest that deregulation of ERCC2 in HNC has the potential to predict a more aggressive cancer phenotype and may be considered a possible biomarker for improved diagnosis and prognosis of HNC.

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