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.

The Spectrum of Beta-Globin Gene Mutations in Thalassemia Patients of South-Western Maharashtra: A Cross Sectional Study

Background: β-thalassemia is a heterogeneous group of inherited hematological disorder. Though the importance of mutations in the beta-globin gene causing β-thalassemia have been reported worldwide, no data are available from rural population of SouthWestern Maharashtra. Objective: In the present study we aimed to characterize the mutations in ß-globin gene from ß-thalassemia patients from rural areas of South-Western Maharashtra. Material and Methods: The patients were analyzed for the ß-globin gene mutations included IVS I-1 (G-T), IVS I-5 (G-C), cd 71/72 (+A), cd 41/42 (-TTCT), codon (cd) 8/9 (+G), cd 17 (A-T), cd 95 (+A), cd 43 (-C), cd 41 (-C), cd 35 (C-A), cd 26 (G-T), cd 19 (A-G), cd 15 (-T), cd 27/28 (+C) and cd 14/15 (+G) with the help of Multiplexed Amplification Refractory Mutation SystemPolymerase Chain Reaction (MARMS-PCR). Results: Out of the common mutations studied the cd 71/72 (21.54%), cd 19 (13.7 %). cd 41/42 (9.68%) and cd 41 (9.6%) showed high prevalence followed by cd17 (7.56 %). 7.27% patients showed IVSI-5 mutations, 6.26 % showed IVSI-1 mutations. Cd 15 mutations were present in 8.69 % patients and only 5.39 % subjects showed cd 8/9 mutations. This study provides the pattern of ß-thalassemia mutations from rural areas of Maharashtra in India. Conclusion: This study provides the pattern of ß-thalassemia mutations from rural population which will open a new avenue for implementation of molecular diagnostics for prenatal diagnosis and prevention of blood disorder by proper counseling in rural areas

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.