AUTHOR=Ounalli Asma , Moumni Imen , Mechaal Amal , Chakroun Aya , Barmat Mbarka , Rhim Rim El Elj , Menif Samia , Safra Ines 

TITLE=TP53 Gene 72 Arg/Pro (rs1042522) single nucleotide polymorphism increases the risk and the severity of chronic lymphocytic leukemia

JOURNAL=Frontiers in Oncology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1272876

DOI=10.3389/fonc.2023.1272876

ISSN=2234-943X

ABSTRACT=<sec><title>Background</title><p>Genetic variations in <italic>TP53</italic> gene are known to be important in chronic lymphocytic leukemia (CLL) and may cause its inactivation which is associated with an aggressive form of the disease. Single nucleotide polymorphism (rs1042522:G&gt;C) in <italic>TP53</italic> gene at codon 72 encodes for arginine (Arg) or proline (Pro) variant which results in amino acid substitution affecting the apoptotic potential of <italic>TP53</italic> protein. The aim of this study was to assess the correlation between <italic>TP53</italic> codon 72 polymorphism and risk susceptibility as well as severity of CLL among Tunisian patients.</p></sec><sec><title>Materials and methods</title><p>A case-control study was conducted in Tunisia from February 2019 to November 2021, 160 <italic>de novo</italic> CLL patients and 160 healthy volunteers matched in age and gender were involved. DNA was extracted from peripheral blood mononuclear cells and the rs1042522 was analyzed using PCR-RFLP.</p></sec><sec><title>Results</title><p>Pro variant was associated with higher susceptibility to CLL than Arg variant (p= 0.023). A significant association was found between Pro variant and prognostic classification of Binet stage C (p= 0.001), low hemoglobin level (p= 0.003) and low platelet count (p= 0.016).</p></sec><sec><title>Conclusion</title><p>We suggest that Pro variant may increase the risk of developing CLL in our population and could be associated with the severity of the disease.</p></sec>