AI Article Synopsis

  • Smoking is a major cause of lung cancer, but not all cigarette smokers develop the disease, highlighting the role of genetic factors in individual susceptibility.
  • The study focuses on the XRCC1 gene's Arg399Gln polymorphism in North Indian males to determine its impact on lung cancer risk, with a case-control setup involving 100 lung cancer patients and 100 healthy volunteers.
  • Results indicate that the Arg/Gln and Gln/Gln genotypes are linked to a higher risk of lung cancer compared to the Arg/Arg genotype, suggesting that genetic testing could be useful for screening in at-risk populations.

Article 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.

Aim: To assess the role of XRCC1 gene polymorphism (Arg399Gln) directly on the variation in susceptibility to development of lung cancer in North Indian subjects.

Materials And 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.

Conclusion: 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290231PMC
http://dx.doi.org/10.7860/JCDR/2014/10061.5132DOI Listing

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