Role of the Functional Polymorphism of Survivin Gene (-31G/C) and Risk of Breast Cancer in a North Indian Population


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Abstract

This study was conducted to explore survivin promoter gene -31G/C polymorphism and the risk of breast cancer in kashmiri population. For this study 190 pathologically confirmed breast cancer patients, in addition to 200 distinct cancer-free controls were included. Single nucleotide polymorphism genotyping for -31G/C polymorphism in the survivin promoter region was done using a polymerase chain reaction-restriction fragment length polymorphism method. The combined prevalence of genotype GC+CC was significantly higher in patients (54.1%) compared with the control group (46.5%) (P = .02). The odds ratio (ORs) analysis indicated that the presence of homozygous CC genotype was associated with increased risk for development of breast cancer and the gene frequencies for G and C alleles were statistically different between patient and control groups. Together these results suggest the association of -31G/C survivin polymorphism at a genotypic and allelic level in breast cancer.Introduction:Survivin is an apoptosis inhibitor and plays a primary role in cancer development and progression. One of the most common polymorphism of the survivin promoter -31G/C (rs9904341) influences its expression and is associated with the risk of cancer development. This study was conducted to explore survivin promoter gene -31G/C (rs9904341) polymorphism and the risk of breast cancer.Patients and Methods:The study group included 190 pathologically confirmed breast cancer patients, in addition to 200 distinct cancer-free controls from Jammu and Kashmir region of India, where breast cancer is the most common cancer in women. Single nucleotide polymorphism genotyping for -31G/C polymorphism in the survivin promoter region was done using a polymerase chain reaction-restriction fragment length polymorphism method.Results:The variant genotype/allele was found in 54.1% of the cases compared with 46.5% of controls. The combined prevalence of genotype GC+CC was significantly higher in patients compared with the control group (P = .02). Analyses of odds ratios (ORs) in the patient and control groups indicated that the presence of homozygous CC genotype was associated with increased risk for development of breast cancer (OR, 2.04; 95% confidence interval [CI], 1.07-2.98). The gene frequencies for G and C alleles were statistically different between patient and control groups (OR, 1.37; 95% CI, 1.03-1.84).Conclusion:The results suggest the association of -31G/C survivin polymorphism at a genotypic and allelic level in breast cancer.

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