Association of P53 (+16ins-Arg) Haplotype with the Increased Susceptibility to Breast Cancer in Iranian-Azeri Women

Abstract

Background:Many case-control investigations have showed the correlation of TP53 gene polymorphisms with the risk of breast cancer. However, the findings are not consistent. It has been suggested that the investigation of P53 genotype combinations and haplotypes may be more helpful than the detection of single polymorphisms. In the present study, we investigated the association of P53 intron 3 and codon 72 polymorphisms, as well as their Haplotypes and genotype combinations, with the development of breast cancer among Azeri women of Iran. Methods:A total of 143 Iranian-Azeri females suffering from breast cancer and 160 ethnically and age-matched healthy females participated in this study. Intron 3 genotype was indicated by length analysis of PCR amplicon on polyacrylamide gels and allele specific–polymerase chain reaction (AS-PCR) was applied for genotyping Arg72Pro variation. Data analysis was performed using the JavaStat online statistics package and SHEsis online program. Results: Our findings did not show a significant association of P53 intron 3 and codon 72 polymorphisms with the risk of breast neoplastic tumors among Iranian-Azeri women. However, the (-16ins/+16ins) (Arg/Arg) combined genotype and (+16Ins-Arg) haplotype had a higher frequency in patients in comparison with the control group (OR=3.816; 95%CI: 0.906-18.459; p =0.047 and OR=3.941; 95%CI: 1.583-9.812; p =0.002, respectively). Conclusion:In our study, (-16ins/+16ins) (Arg/Arg) genotype combination and (+16ins-Arg) haplotype showed significant correlation with the increased susceptibility to breast cancer development in Iranian-Azeri females.

Keywords

• breast cancer
• p53
• polymorphism
• haplotype