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

Article

Last updated: 03 Jan 2025

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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. 

DOI

10.21608/eajbsc.2019.26280

Keywords

p53 Arg72Pro, Single Nucleotide Polymorphism (SNP), Minor Allele Frequency (MAF), Saudi Arabia

Authors

First Name

Naseem

Last Name

Akhter

MiddleName

-

Affiliation

Department of Laboratory Medicine, Faculty of Applied Medical Sciences, Albaha University, Albaha- KSA

Email

naseem.du@gmail.com

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Volume

11

Article Issue

1

Related Issue

4736

Issue Date

2019-06-01

Receive Date

2019-01-01

Publish Date

2019-06-01

Page Start

1

Page End

14

Print ISSN

2090-0767

Online ISSN

2090-083X

Link

https://eajbsc.journals.ekb.eg/article_26280.html

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https://eajbsc.journals.ekb.eg/service?article_code=26280

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Original Article

Type Code

673

Publication Type

Journal

Publication Title

Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology

Publication Link

https://eajbsc.journals.ekb.eg/

MainTitle

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

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Article

Created At

22 Jan 2023