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Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

This study aimed to explore the associations between the TP53 rs1042522 (TP53 Arg72Pro), MDM2 rs2279744 (MDM2 309T>G), rs3730485 (MDM2 del1518), MDM4 rs4245739 (MDM4 34091 C>A) variants and odds of developing acute myeloid leukemia (AML) in a cohort of 809 adult subjects, consisting of 406 hea...

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Autores principales: Tripon, Florin, Iancu, Mihaela, Trifa, Adrian, Crauciuc, George Andrei, Boglis, Alina, Balla, Beata, Cosma, Adriana, Dima, Delia, Candea, Marcela, Lazar, Erzsebet, Jimbu, Laura, Banescu, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355701/
https://www.ncbi.nlm.nih.gov/pubmed/32492903
http://dx.doi.org/10.3390/jcm9061672
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author Tripon, Florin
Iancu, Mihaela
Trifa, Adrian
Crauciuc, George Andrei
Boglis, Alina
Balla, Beata
Cosma, Adriana
Dima, Delia
Candea, Marcela
Lazar, Erzsebet
Jimbu, Laura
Banescu, Claudia
author_facet Tripon, Florin
Iancu, Mihaela
Trifa, Adrian
Crauciuc, George Andrei
Boglis, Alina
Balla, Beata
Cosma, Adriana
Dima, Delia
Candea, Marcela
Lazar, Erzsebet
Jimbu, Laura
Banescu, Claudia
author_sort Tripon, Florin
collection PubMed
description This study aimed to explore the associations between the TP53 rs1042522 (TP53 Arg72Pro), MDM2 rs2279744 (MDM2 309T>G), rs3730485 (MDM2 del1518), MDM4 rs4245739 (MDM4 34091 C>A) variants and odds of developing acute myeloid leukemia (AML) in a cohort of 809 adult subjects, consisting of 406 healthy controls and 403 AML patients. Model-based multifactor dimensionality reduction (MB-MDR) framework was used to identify the interactions of the mentioned variants and their association with AML risk. Associations of the mentioned variants with clinical features of AML, somatic mutations, and response to treatment were also evaluated. Significant associations between TP53 rs1042522 and MDM4 rs4245739 variants and AML susceptibility were noticed. MB-MDR and logistic regression analysis revealed an interaction between MDM2 rs2279744 and TP53 rs1042522, between MDM4 rs4245739 and MDM2 rs3730485, as well as significant associations with AML susceptibility. Several associations between the mentioned variants and clinical features of AML and somatic mutations were also noticed. Individually, the variant genotypes of TP53 rs1042522 and MDM4 rs4245739 were associated with AML susceptibility, but their interaction with MDM2 rs2279744 and rs3730485 modulated the risk for AML. The variant genotypes of TP53 rs1042522 were associated with adverse molecular and cytogenetic risk and also with NPM1 mutations.
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spelling pubmed-73557012020-07-23 Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study Tripon, Florin Iancu, Mihaela Trifa, Adrian Crauciuc, George Andrei Boglis, Alina Balla, Beata Cosma, Adriana Dima, Delia Candea, Marcela Lazar, Erzsebet Jimbu, Laura Banescu, Claudia J Clin Med Article This study aimed to explore the associations between the TP53 rs1042522 (TP53 Arg72Pro), MDM2 rs2279744 (MDM2 309T>G), rs3730485 (MDM2 del1518), MDM4 rs4245739 (MDM4 34091 C>A) variants and odds of developing acute myeloid leukemia (AML) in a cohort of 809 adult subjects, consisting of 406 healthy controls and 403 AML patients. Model-based multifactor dimensionality reduction (MB-MDR) framework was used to identify the interactions of the mentioned variants and their association with AML risk. Associations of the mentioned variants with clinical features of AML, somatic mutations, and response to treatment were also evaluated. Significant associations between TP53 rs1042522 and MDM4 rs4245739 variants and AML susceptibility were noticed. MB-MDR and logistic regression analysis revealed an interaction between MDM2 rs2279744 and TP53 rs1042522, between MDM4 rs4245739 and MDM2 rs3730485, as well as significant associations with AML susceptibility. Several associations between the mentioned variants and clinical features of AML and somatic mutations were also noticed. Individually, the variant genotypes of TP53 rs1042522 and MDM4 rs4245739 were associated with AML susceptibility, but their interaction with MDM2 rs2279744 and rs3730485 modulated the risk for AML. The variant genotypes of TP53 rs1042522 were associated with adverse molecular and cytogenetic risk and also with NPM1 mutations. MDPI 2020-06-01 /pmc/articles/PMC7355701/ /pubmed/32492903 http://dx.doi.org/10.3390/jcm9061672 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Tripon, Florin
Iancu, Mihaela
Trifa, Adrian
Crauciuc, George Andrei
Boglis, Alina
Balla, Beata
Cosma, Adriana
Dima, Delia
Candea, Marcela
Lazar, Erzsebet
Jimbu, Laura
Banescu, Claudia
Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study
title Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study
title_full Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study
title_fullStr Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study
title_full_unstemmed Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study
title_short Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study
title_sort association analysis of tp53 rs1042522, mdm2 rs2279744, rs3730485, mdm4 rs4245739 variants and acute myeloid leukemia susceptibility, risk stratification scores, and clinical features: an exploratory study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355701/
https://www.ncbi.nlm.nih.gov/pubmed/32492903
http://dx.doi.org/10.3390/jcm9061672
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