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

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

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

Identification of genetic polymorphisms in DNA repair xenoderma pigmentosum group D gene and its association with head and neck cancer susceptibility in rural Indian population: a hospital based case-control study from south-western Maharashtra, India

Background: Smoking and alcohol related head and neck cancer is a major concern of health risk in developing countries, such as India. In this study, we aimed to determine the frequency of polymorphisms in DNA repair gene, xeroderma pigmentosum complementation group D (XPD) at codon (cd) 156, cd199, cd320, cd751 in patients of oral cancer from South-Western Maharashtra, India and to evaluate their association with oral cancer development.Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze XPD gene polymorphisms in 320 patients with oral cancer and in 400 age and sex matched disease-free controls.Results: There was no significant difference in the genotype distribution between oral cancer patients and controls for each polymorphism (p>0.05) except XPD199. The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XPD Arg156, XPD Asn320, XPD Gln751. XPDMet199 (OR=29.44; 95% CI= (18.47-46.92); p≤0.0001) genotypes significantly increased the risk of head and neck cancer.Conclusions: This study indicates that polymorphisms in cd199 of XPD gene could play a role in modifying genetic susceptibility of individual to head and neck cancer inMaharashtra patients. Thus, the case-control study suggest that selected DNA repair genes represent genetic determinants in oral carcinogenesis along with other risk factors in the rural Indian population.

Association of Genetic Variants in XPC and XPG Genes with Cervical Cancer Risk in a Rural Population: A Hospital Based Case Control Study

Background: Cervical cancer is a major concern of health risk in urban and rural parts of India.. Aim and Objectives: This study was aimed to find out frequency of polymorphisms in DNA repair genes including Xeroderma pigmentosum complementation group C (XPC) and Xenoderma pigmentosum complementation group G (XPG) in patients of cervical cancer from Maharashtra and to evaluate their association with risk of cervical cancer. Materials and Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to examine gene polymorphisms in 350 patients with cancer of cervix and 400 age and sex matched normal controls. Results: The results obtained indicated that there was no significant difference in the genotype distribution between cervical cancer patients and controls for XPC Lys939Gln, -371promoter and XPG His 1104 Asp. The result showed that genotype frequencies of XPC Val 499 Arg of codon 499 in exon 15 (OR=4.26; 95% CI=(3.007-6.03); p= <0.0001) were increased significantly. Conclusion: This study indicates that polymorphisms in Val499Arg haplotype of XPC gene appear to influence genetic susceptibility of individual to cervical cancer in Maharashtrian patients

The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study

Abstract: Purpose: Congenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down’s syndrome, in around a third of infants. The aim of this study was to explore the impact of T21 on the epidemiology, management, and outcomes of infants with CDO. Methods: Data were prospectively collected from specialist neonatal surgical centres in the United Kingdom over a 12 month period from March 2016 using established population-based methodology for all babies with CDO. Infants with T21 were compared to those without any chromosomal anomaly. Results: Of 102 infants with CDO that underwent operative repair, T21 was present in 33 [32% (95% CI 23–41%)] babies. Cardiac anomalies were more common in those with T21 compared to those without a chromosomal anomaly (91 vs 17%, p < 0.001), whereas associated gastrointestinal anomalies were less common in infants with T21 (3 vs 12%, p = 0.03). Surgical management was not influenced by T21. Time to achieve full enteral feed, need for repeat related surgery, and mortality were similar between groups. Infants with T21 had a longer median initial inpatient stay (23 vs 16.5 days, p = 0.02). Conclusions: Infants with T21 have a higher incidence of cardiac anomalies and a longer initial inpatient stay; however, it does not change CDO management or outcomes. This information is important for prenatal and postnatal counselling of parents of infants with CDO and T21

The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study

Abstract: Purpose: Congenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down’s syndrome, in around a third of infants. The aim of this study was to explore the impact of T21 on the epidemiology, management, and outcomes of infants with CDO. Methods: Data were prospectively collected from specialist neonatal surgical centres in the United Kingdom over a 12 month period from March 2016 using established population-based methodology for all babies with CDO. Infants with T21 were compared to those without any chromosomal anomaly. Results: Of 102 infants with CDO that underwent operative repair, T21 was present in 33 [32% (95% CI 23–41%)] babies. Cardiac anomalies were more common in those with T21 compared to those without a chromosomal anomaly (91 vs 17%, p < 0.001), whereas associated gastrointestinal anomalies were less common in infants with T21 (3 vs 12%, p = 0.03). Surgical management was not influenced by T21. Time to achieve full enteral feed, need for repeat related surgery, and mortality were similar between groups. Infants with T21 had a longer median initial inpatient stay (23 vs 16.5 days, p = 0.02). Conclusions: Infants with T21 have a higher incidence of cardiac anomalies and a longer initial inpatient stay; however, it does not change CDO management or outcomes. This information is important for prenatal and postnatal counselling of parents of infants with CDO and T21

Identification of genetic polymorphisms in DNA repair xenoderma pigmentosum group D gene and its association with head and neck cancer susceptibility in rural Indian population: a hospital based case-control study from south-western Maharashtra, India

Background: Smoking and alcohol related head and neck cancer is a major concern of health risk in developing countries, such as India. In this study, we aimed to determine the frequency of polymorphisms in DNA repair gene, xeroderma pigmentosum complementation group D (XPD) at codon (cd) 156, cd199, cd320, cd751 in patients of oral cancer from South-Western Maharashtra, India and to evaluate their association with oral cancer development.Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze XPD gene polymorphisms in 320 patients with oral cancer and in 400 age and sex matched disease-free controls.Results: There was no significant difference in the genotype distribution between oral cancer patients and controls for each polymorphism (p&gt;0.05) except XPD199. The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XPD Arg156, XPD Asn320, XPD Gln751. XPDMet199 (OR=29.44; 95% CI= (18.47-46.92); p≤0.0001) genotypes significantly increased the risk of head and neck cancer.Conclusions: This study indicates that polymorphisms in cd199 of XPD gene could play a role in modifying genetic susceptibility of individual to head and neck cancer inMaharashtra patients. Thus, the case-control study suggest that selected DNA repair genes represent genetic determinants in oral carcinogenesis along with other risk factors in the rural Indian population.