scholarly journals Assessment on the influence of TLR4 and DNA repair genes in laryngeal cancer susceptibility: a selective examination in a Romanian case control study

2021 ◽  
Vol 29 (1) ◽  
pp. 19-31
Author(s):  
Corina Iulia Cornean ◽  
Violeta Necula ◽  
Marcel Cosgarea ◽  
Alma Aurelia Maniu ◽  
Andreea Catana
Keyword(s):  
Dna Repair ◽  
Laryngeal Cancer ◽  
Case Control Study ◽  
Cancer Susceptibility ◽  
Fold Increase ◽  
Case Control ◽  
Cancer Development ◽  
Individual Risk ◽  
Cancer Evolution ◽  
Control Study

Abstract Background: Tumor characterization through the study of molecular biology has become an invaluable tool in understanding cancer development and evolution due to its relationship with chromosomal mutations, alterations or aberrations. The purpose of this study was to investigate the involvement of genes such as TLR-4 and DNA repair pathways (XRCC1 and XPD) in laryngeal cancer susceptibility in a Romanian population. Method: We performed a case-control study on 157 laryngeal cancer patients and 101 healthy controls. Genetic testing was carried out using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Results: We identified the Gln allele of the XPDLys751Gln polymorphism as an individual risk factor in laryngeal cancer development (Gln vs Lys, adjusted OR=1.65, 95%CI=1.13–2.40, P=0.008). Subjects with the mutant homozygote variant (Gln/Gln) had a two fold increase in cancer risk (adjusted OR=2.18, 95%CI=1.06–4.47, p=0.028) when compared to the reference wild type genotype (Lys/Lys). Stratification by sex and age, identified males under 62 years as the most susceptible group with an almost three fold risk (adjusted OR=2.94, 95%CI=1.31–6.59, p=0.007) for the dominant model (Lys/Gln+Gln/Gln). No associations were found for TLR-4Thr399Ile, XRCC1Arg194Trp and XRCC1Arg399Gln. Conclusion: The results of the study show that the XPDLys751Gln polymorphism may be among other independent risk factors for developing laryngeal cancer where as TLR-4Thr399Ile, XRCC1Arg194Trp and XRCC1 Arg399Gln show no such association. However, we consider the relative small number of the subjects selected for this analyses a possible limitation towards the real influence the obtain results may pertain in laryngeal cancer evolution.

scholarly journals Association of genetic polymorphisms in XRCC4, XRCC5, XRCC6 and XRCC7 in cervical cancer susceptibility from rural population: a hospital based case-control study

2018 ◽  
Vol 6 (7) ◽  
pp. 2453
Author(s):  
Kailas D. Datkhile ◽  
Madhavi N. Patil ◽  
Pratik P. Durgawale ◽  
Kalpita S. Korbu ◽  
Shreepad A. Joshi ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Rural Population ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
Cancer Susceptibility ◽  
Case Control ◽  
Cancer Development ◽  
Pcr Rflp ◽  
Cervical Cancer Development ◽  
Control Study

Background: Cervical cancer is a major concern of health risk, moreover the leading cause of cancer causing deaths in women of rural India. This study was aimed to assess the risk of cervical cancer development in association with polymorphisms in XRCC4, XRCC5, XRCC6 and XRCC7 genes in rural population of south-western Maharashtra.Methods: This study included 350 cervical cancer proven cases and 400 age and sex matched controls. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze the association XRCC4, XRCC6 and XRCC7 gene polymorphisms with cervical cancer development in women of Western Maharashtra.Results: The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XRCC4, XRCC5 and XRCC6. 6721 >T allele of XRCC7 (6721G>T) (OR= 2.34; 95% CI= (2.34 (1.60-3.43); p= <0.0001) significantly increased the risk of cervical cancer.Conclusions: This study indicates that XRCC7 gene polymorphisms play a role in modifying genetic susceptibility of individuals towards cervical cancer among women from rural Maharashtra. This case-control study also revealed negative association of XRCC6 gene in cervical carcinogenesis in the rural Indian population.

scholarly journals Assessment of role of genetic polymorphisms in XRCC1, XRCC2 and XRCC3 genes in cervical cancer susceptibility from a rural population: a hospital based case-control study from Maharashtra, India

2018 ◽  
Vol 6 (9) ◽  
pp. 3132
Author(s):  
Kailas D. Datkhile ◽  
Madhavi N. Patil ◽  
Pratik P. Durgawale ◽  
Shreepad A. Joshi ◽  
Kalpita S. Korabu ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Dna Repair ◽  
Rural Population ◽  
Case Control Study ◽  
Case Control ◽  
Cancer Development ◽  
Dna Repair Genes ◽  
Cervical Cancer Development ◽  
Repair Genes ◽  
Control Study

Background: Cervical cancer is a major concern of health risk, moreover the leading cause of cancer causing deaths in women of rural parts of India. This study was aimed to assess the risk of cervical cancer development in association with polymorphisms in X-Ray Cross Complementing Group (XRCC1, XRCC2 and XRCC3) genes in the rural population of south-western Maharashtra. We focused to determine the frequency of polymorphisms in DNA repair genes including XRCC1 at codon (cd) 194, cd 280, cd 399, XRCC2 at cd 188 and XRCC3 at cd 241 and their plausible role in cervical cancer risk from rural parts of India.Methods: This study included 350 proven cases with cervical cancer and 400 age and sex matched controls. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze the association XRCC1, XRCC2 and XRCC3 gene polymorphisms with cervical cancer development in women of South-Western Maharashtra.Results: The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XRCC1 Trp194, XRCC2 His188 and XRCC3 Met241. XRCC1 His280 (OR= 4.36; 95% CI= (3.20-5.95); p= <0.0001) and XRCC1 Gln399 (OR= 2.99; 95% CI= (1.60-5.56); p= <0.0001) genotypes significantly increased the risk of cervical cancer.Conclusions: This study indicates that polymorphisms in cd 280 of exon 9 and cd 399 of exon 10 of XRCC1 gene could play a role in modifying genetic susceptibility of individuals towards cervical cancer among women from rural Maharashtra. This case-control study suggest that selected DNA repair genes represent genetic determinants in cervical carcinogenesis along with other risk factors in the rural Indian population.

scholarly journals Risk Factor Analysis for Above-knee Amputation in Patients With Periprosthetic Joint Infection of the Knee: a Case-control Study

2021 ◽  
Author(s):  
Franziska Eckers ◽  
Christoph J. Laux ◽  
Sebastian Schaller ◽  
Martin Berli ◽  
Yvonne Achermann ◽  
...  
Keyword(s):  
Risk Factors ◽  
Alcohol Abuse ◽  
Periprosthetic Joint Infection ◽  
Case Control Study ◽  
Joint Infection ◽  
Case Control ◽  
Individual Risk ◽  
Preoperative Anemia ◽  
Knee Amputation ◽  
Control Study

Abstract Background: Periprosthetic joint infection (PJI) is a severe complication following knee arthroplasty. Therapeutic strategies comprise a combination of surgical and antibiotic treatment modalities and aim to eradicate the infection. Sometimes control of the disease can only be attained by above-knee amputation (AKA). While a vast amount of literature exists illuminating predisposing factors for PJI, risk factors favoring the endpoint AKA in this context are sparsely known. Methods: The purpose of this investigation was to delineate whether patients with PJI of the knee present specific risk factors for AKA. In a retrospective case-control study 11 cases of PJI treated with AKA were juxtaposed to 57 cases treated with limb salvage (LS). The minimum follow-up was two years. Comorbidities, signs and symptoms of the current infection, factors related to previous surgeries and the implant, microbiology, as well as therapy related factors were recorded. Comparative analysis was performed using student’s t-test, chi-square test or Fisher’s exact test. Binary differences were calculated using odds ratio (OR). Reoperation frequency was compared using Mann-Whitney U test. In-depth descriptive analysis of 11 amputees was carried out. Results: A total of 68 cases aged 71±11.2 years were examined, hereof 11 with AKA and 57 with LS. Severe comorbidities (p=0.009), alcohol abuse (p=0.015), and preoperative anemia (p=0.022) were more frequently associated with AKA. Preoperative anemia was found in all 11 amputees (100%) and in 33 of 57 LS patients (58%) with an average preoperative hemoglobin of 99.9±15.1 g/dl compared to 118.2±19.9 g/dl (p=0.011). No other parameters differed significantly. AKA patients underwent a median of eight (range 2-24) reoperations, LS patients a median of five (range 2-15).Conclusion: Factors potentially influencing the outcome of knee PJI are diverse. The indication of AKA in this context remains a rarity and a case-by-case decision. Patient-intrinsic systemic factors such as alcohol abuse, severe comorbidities and preoperative anemia may elevate the individual risk for AKA in the setting of PJI. We recommend that anemia, being a condition well amenable to therapeutic measures, should be given special consideration in management of PJI patients. Trial registration: This study was registered with Kantonale Ethikkommission Zürich, (BASEC-No. 2016-01048).

scholarly journals Genetic Variants of ATM & Non-Homologous End Joining Pathway Genes in Acute Myeloid Leukemia: A South India Case-Control Study

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5076-5076
Author(s):  
Sugunakar Vuree ◽  
Anuradha Cingeetham ◽  
Dunna Nageswara Rao ◽  
Manjula Gorre ◽  
Sudha Sinha ◽  
...  
Keyword(s):  
Dna Repair ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Case Control Study ◽  
Case Control ◽  
South Indian Population ◽  
End Joining ◽  
Non Homologous End Joining ◽  
Control Study ◽  
Acute Myeloid

Purpose of the study: Deregulated DNA repair is one of the hallmarks of cancers including Acute Myeloid Leukemia (AML), as it results in genomic instability. ATM gene functions as a sensor, activates cascade of events leading to stimulation of multiple DNA damage- responsive signaling pathways. Principal DNA repair mechanism activated in the hematopoietic stem cells is the Non Homologous End Joining (NHEJ) pathway. However, this pathway was shown to be error prone. Functional SNPs in the genes involved in DNA repair might influence the gene expression leading to altered DNA repair which might confer the risk to AML. Materials & Methods: This hospital-based case-control study included 225 AML patients and 326 cancer-free controls from South Indian population. Six polymorphisms of XRCC5, XRCC6, XRCC7 and ATM were genotyped using polymerase chain reaction (PCR)-Restriction Fragment Length Polymorphism (PCR- RFLP) method. Statistical analyses were performed by using SPSS (version20v) and SNPSTAT online tool. Protein-Protein Interaction (PPI) analysis was also done to see the relationship between these genes. Results: We found that there was an elevated risk of AML associated with the XRCC5 VNTR 0R repeat and A allele of 2408G>A polymorphism (p-0.04 and p<0.0001 respectively), the frequencies of G allele (p-<0.0001) of XRCC6 -1310C>G and T allele (p-0.003) of ATM -5144A>T polymorphisms were also significantly increased in AML cases. Further, analyses of the variant genotypes with epidemiological and clinical variables revealed a significant association of the risk genotypes with development and progression of AML. Conclusion: The XRCC5 0R repeat, 2408G>A, XRCC6 -1310 C>G and ATM- 5144A>T polymorphisms, but not XRCC6 -61C>G and XRCC7 6721G>T polymorphisms, play an important role in the pathogenesis of AML. Figure Disclosures No relevant conflicts of interest to declare.

P1.15: Exposure to cement dust, related occupational groups and laryngeal cancer risk: Results of a population based case-control study

2004 ◽  
Vol 46 (S1) ◽  
pp. 103-103
Author(s):  
Andreas Dietz ◽  
Heribert Ramroth ◽  
Tobias Urban ◽  
Wolfgang Ahrens ◽  
Heiko Becher
Keyword(s):  
Cancer Risk ◽  
Laryngeal Cancer ◽  
Case Control Study ◽  
Population Based ◽  
Case Control ◽  
Cement Dust ◽  
Occupational Groups ◽  
Control Study
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