The Variant Allele Frequency of p53 Arg72Pro (rs1042522) Polymorphism: A Major Breast Cancer Susceptibility Factor in Saudi and Other Ethnic Groups

Abstract

Introduction: Codon 72 polymorphism (G> C; Arg> Pro) in p53, an important tumor suppressor gene, contribute to an elevated risk of many cancers including breast cancer. p53 alterations negatively impact cell cycle arrest, DNA damage repair, and apoptosis leading to cancer onset and development. The occurrence of p53 exon 4 G>C polymorphism is different in diverse populations, but the information regarding its allelic distribution in the Saudi population is lacking. Methods: PUBMED (Medline), the web of science and google database were used to search epidemiological studies conducted globally to compare the frequency distribution of variant allele in the Saudi population with that of diverse ethnic groups. Results: The frequency of p53 exon 4 variant allele (G) was found to be 51% in the Saudi population. A significantly different variant allele frequency was found for Japan (p<0.0001), Jordan (p=0.0002), China (p<0.0001), Iran (p<0.0001), India (p=0.0023), Turkey (p<0.0001) and Taiwan (0.0307) ethnic populations, upon comparison of Saudi Arabian frequency with that of other Asian populations. Furthermore, a significantly different MAF was found in every study in the Caucasian group except for Greece (p=0.1451) ethnic populations, when compared with Saudi Arabian frequency. Conclusions: The allelic frequency distribution analysis of p53 exon4 Arg72Pro SNP in Saudi population showed a unique pattern, significantly different from many populations in Asian subgroup and all but one populations in the Caucasian subgroup. The findings may help in large scale population screening for this cancer susceptibility factor.