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Background: Leptin plays an important role in mammary tumor formation. It is secreted by adipose tissue that acts at the brain to
regulate energy expenditure and food intake and has an important role in energy balance, insulin pathway and inflammation. Hence
the aim of our investigation has been on the impact of Lep-2548G/A polymorphism in breast cancer as compared to matched control.
Patients & Methods: The present study focuses on the polymorphism leptin gene for variants by screening of this gene in South
Indian obese subjects (n=154 obese breast cancer cases and n=145 obese controls). We utilized PCR- RFLP based assay to evaluate
the association between the Gln2548Arg polymorphism of the leptin gene and breast cancer risk in case control study.
Results & Discussion: The distributions of all three genotypes in breast cancer cases were 18.8%, 44.8%, and 36.4% compared to
that of the controls, 33.0%, 29.6%, and 37.4%. We found that postmenopausal breast cancer cases showed statistically significant
association with GA genotype when compared with premenopausal women without disease (p=0.001). This difference was between
the cases and controls in the Gln2548Arg genotypes.
Conclusion: Our findings suggest that the LEP Gln2548Arg polymorphism may be a useful biomarker associated with the risk of
breast cancer women in Indian population.