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Article

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

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Genetics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
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Genetics Laboratory, Center for Advanced Medical and Pharmaceutical Research of George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
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Department of Medical Informatics and Biostatistics, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400000 Cluj Napoca, Romania
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Department of Medical Genetics, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400000 Cluj-Napoca, Romania
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Department of Hematology, “Ion Chiricuta” Clinical Cancer Center, 400015 Cluj-Napoca, Romania
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Department of Internal Medicine, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
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Department of Hematology, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400000 Cluj-Napoca, Romania
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Authors to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(6), 1672; https://doi.org/10.3390/jcm9061672
Received: 9 April 2020 / Revised: 18 May 2020 / Accepted: 25 May 2020 / Published: 1 June 2020
(This article belongs to the Special Issue Advances in Acute Myeloid Leukemia)
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. View Full-Text
Keywords: acute myeloid leukemia; rs1042522 (TP53 Arg72Pro); rs2279744 (MDM2 309T> G); rs3730485 (MDM2 del1518); rs4245739 (MDM4 34091 C> A) acute myeloid leukemia; rs1042522 (TP53 Arg72Pro); rs2279744 (MDM2 309T>; G); rs3730485 (MDM2 del1518); rs4245739 (MDM4 34091 C>; A)
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MDPI and ACS Style

Tripon, F.; Iancu, M.; Trifa, A.; Crauciuc, G.A.; Boglis, A.; Balla, B.; Cosma, A.; Dima, D.; Candea, M.; Lazar, E.; Jimbu, L.; Banescu, C. 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. J. Clin. Med. 2020, 9, 1672. https://doi.org/10.3390/jcm9061672

AMA Style

Tripon F, Iancu M, Trifa A, Crauciuc GA, Boglis A, Balla B, Cosma A, Dima D, Candea M, Lazar E, Jimbu L, Banescu C. 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. Journal of Clinical Medicine. 2020; 9(6):1672. https://doi.org/10.3390/jcm9061672

Chicago/Turabian Style

Tripon, Florin, Mihaela Iancu, Adrian Trifa, George A. Crauciuc, Alina Boglis, Beata Balla, Adriana Cosma, Delia Dima, Marcela Candea, Erzsebet Lazar, Laura Jimbu, and Claudia Banescu. 2020. "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" Journal of Clinical Medicine 9, no. 6: 1672. https://doi.org/10.3390/jcm9061672

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