title: XRCC-1 Gene Polymorphism (Arg399Gln) and Susceptibility to Development of Lung Cancer in Cohort of North Indian Population: A Pilot Study.
abstract: BACKGROUND
  Smoking has been considered to be the major cause of lung cancer. However, only a fraction of cigarette smokers develop this disease. This suggests the importance of genetic constitution in predicting the individual's susceptibility towards lung cancer. This genetic susceptibility may result from inherited polymorphisms in genes controlling carcinogen metabolism and repair of damaged deoxyribonucleic acid (DNA). These repair systems are fundamental to the maintenance of genomic integrity. X-ray repair cross complimenting group I (XRCC1), a major DNA repair gene in the base excision repair (BER) pathway. It is involved in repair by interacting with components of DNA at the site of damage. Inconsistent results have been reported regarding the associations between the Arg399Gln polymorphism of XRCC1. This study demonstrates the importance of recognition of this relationship of lung carcinoma and genetic constitution of the person which will help guide clinicians on the optimal screening of this disease.
  
  
  OBJECTIVE
  To assess the role of XRCC1 gene polymorphism (Arg399Gln) directly on the variation in susceptibility to development of lung cancer in North Indian subjects.
  
  
  METHODS
  One hundred males with diagnosed cases of lung cancer were recruited from Delhi State Cancer Institute (DSCI). Hundred healthy volunteers were taken as controls. DNA isolation was done and Polymerase chain reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) procedure undertaken to amplify the region containing Arg/Gln substitution at codon 399 (in exon 10).
  
  
  RESULTS
  XRCC1 gene polymorphism is associated with increased risk of lung cancer when the Arg/Arg genotype was used as the reference group. The Arg/Gln and Gln/Gln was associated with statistically increased risk for cancer.
  
  
  CONCLUSIONS
  Arg399Gln polymorphism in XRCC1 gene polymorphism is associated with lung cancer in North Indian subjects and screening for this polymorphism will help in targeting predisposed individuals and its prevention.
authors.affiliation: Assistant Professor, Department of Biochemistry, LHMC & Smt Sucheta Kriplani Hospital , New Delhi, India .
authors.forename: Vibha
authors.initials: V
authors.lastname: Uppal
authors.affiliation: Assistant Professor, Department of Biochemistry, University College of Medical Sciences , New Delhi, India .
authors.forename: Mohit
authors.initials: M
authors.lastname: Mehndiratta
authors.affiliation: Intern, University College of Medical Sciences , New Delhi, India .
authors.forename: Debabratta
authors.initials: D
authors.lastname: Mohapatra
authors.affiliation: Director & CEO, Delhi State Cancer Institute , New Delhi, India .
authors.forename: Rajesh K
authors.initials: RK
authors.lastname: Grover
authors.affiliation: Professor and Head, Department of Biochemistry, University College of Medical Sciences , New Delhi, India .
authors.forename: Dinesh
authors.initials: D
authors.lastname: Puri
keywords: Base excision repair; Deoxyribonucleic acid repair; Polymerase chain reaction–Restriction fragment length polymorphism; Polymorphism