International Journal of Health Sciences and Research

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Original Research Article

Year: 2017 | Month: July | Volume: 7 | Issue: 7 | Pages: 290-298

Genetic Polymorphisms of DNA Repair Gene (XPD) and Breast Cancer Risk in a Hospital Based Case-Control Study from Maharashtra

Datkhile KD1, Bhosale SJ2, Patil MN1, Durgawale PP1, Kakade SV3

1Molecular & Genetic Laboratory, 2Department of Surgery, 3Department of Preventive and Social Medicine,
Krishna Institute of Medical Sciences University, Taluka-Karad, Dist-Satara, Pin-415 110, Maharashtra, India

Corresponding Author: Datkhile KD


Breast cancer is a major concern of women health in developing countries, including India. This study was aimed to determine the polymorphisms in DNA repair gene, Xeroderma pigmentosum complementation group D (XPD) at codon (cd) 156, cd199, cd320, cd751 in patients of breast cancer from Maharashtra and to evaluate their association with breast cancer development.
Methods: We conducted a case control study including 170 breast cancer cases and 200 hospital based age and sex matched healthy controls to estimate the role of genetic polymorphisms of XPD gene in the context of breast cancer risk for the Maharashtrian population. We used PCR-RFLP to analyze XPD gene polymorphisms.
Results: The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XPD Arg156, XPD Met199, XPD Gln751 except XPD312. XPD Asn312 (OR= 5.14; 95% CI= (3.04-8.69); p= <0.0001) genotype significantly increased the risk of breast cancer.
Conclusions: This study indicates that polymorphisms in cd320 of XPD gene could play a role in modifying genetic susceptibility of individual to breast cancer in Maharashtra patients.

Key words: Genetic polymorphisms, XPD, breast cancer, genotyping, PCR-RFLP

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