tp53 arg72pro
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Gene Reports ◽  
2021 ◽  
pp. 101406
Author(s):  
Hamida Ali ◽  
Muhammad Naeem ◽  
Naheed Sajjad ◽  
Gul Naz ◽  
Abdul Samad ◽  
...  

2020 ◽  
Vol 23 (2) ◽  
pp. 157-165
Author(s):  
Farida F. A. Nerweyi

A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible relevance in susceptibility to glioma using RFLP-PCR analysis. Enrolled were 65 patients (glioma tissues matched age and gender) and 70 healthy individuals as a control. The findings in glioma samples 40(61.54%) were homozygous for arginine (Arg / Arg), 19 (29.23%) heterozygous for (Arg / Pro), and 6 (9.23%) homozygous for proline (Pro / Pro). Three separate frequencies of genotypes of Arg72Pro; 33 (47.14%), 28 (40.0), and 9 (12.86%) were identified in healthy individuals, respectively. The allele Frequencies for the Pro 72 and Arg 72 gliomas were 16 (24.62%) and 49 (75.38%), respectively. In the Pro 72 and Arg 72 controls, the allele frequencies were 23 (32.86%) and 47 (67.14%), respectively. Finally, there was no significant relationship between age group, gender, dwellers, non-smokers and smokers in different genotypes of codon 72 of TP53 gene (P < 0.05).


2020 ◽  
Vol 23 (2) ◽  
pp. 157-165
Author(s):  
Farida F. A. Nerweyi

A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible relevance in susceptibility to glioma using RFLP-PCR analysis. Enrolled were 65 patients (glioma tissues matched age and gender) and 70 healthy individuals as a control. The findings in glioma samples 40(61.54%) were homozygous for arginine (Arg / Arg), 19 (29.23%) heterozygous for (Arg / Pro), and 6 (9.23%) homozygous for proline (Pro / Pro). Three separate frequencies of genotypes of Arg72Pro; 33 (47.14%), 28 (40.0), and 9 (12.86%) were identified in healthy individuals, respectively. The allele Frequencies for the Pro 72 and Arg 72 gliomas were 16 (24.62%) and 49 (75.38%), respectively. In the Pro 72 and Arg 72 controls, the allele frequencies were 23 (32.86%) and 47 (67.14%), respectively. Finally, there was no significant relationship between age group, gender, dwellers, non-smokers and smokers in different genotypes of codon 72 of TP53 gene (P < 0.05).


Author(s):  
Samara Betina Rocha Carvalho ◽  
Aline Ribeiro Barros ◽  
Leonardo Aquino ◽  
Luzitano Brandão Ferreira ◽  
Helia Carla Souza Silva ◽  
...  

Objetivo: investigar a associação entre o polimorfismo TP53 Arg72Pro em pacientes diagnosticados com acidente vascular encefálico hemorrágico (AVEH) ou aneurisma intracerebral em uma amostra do Distrito Federal. Método: Tratou-se de um estudo caso-controle, com 162 indivíduos equitativamente divididos nos grupos, com anotações das características clínicas do prontuário e análise da genotipagem por meio da estratégia de PCR. As frequências genotípicas foram estimadas por contagem direta. O nível de significância adotado foi de 5%. Resultados: Foi verificado que a presença do alelo Arg do polimorfismo do TP53 Arg72Pro atuou como fator do risco para a ocorrência do AVEH/aneurisma intracerebral. A presença do genótipo Arg/Arg aumentou o risco para o prognóstico ruim (ERM >3) em pacientes portadores do AVEH/aneurisma (P<0,01; OR= 6,07). Não houve associação estatística entre HAS, diabetes, tabagismo e etilismo e a presença do polimorfismo TP53 Arg72Pro no grupo estudado. Conclusão: Concluiu-se que a presença do alelo Arg do polimorfismo do TP53 Arg72Pro está associada ao aumento do risco de ocorrência do AVEH/aneurisma intracerebral.


2020 ◽  
Vol 21 (7) ◽  
pp. 2091-2098
Author(s):  
Tahsin Nairuz ◽  
Mostafijur Rahman ◽  
Most Umme Bushra ◽  
Yearul Kabir

2020 ◽  
Vol 9 (6) ◽  
pp. 1672 ◽  
Author(s):  
Florin Tripon ◽  
Mihaela Iancu ◽  
Adrian Trifa ◽  
George Andrei Crauciuc ◽  
Alina Boglis ◽  
...  

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.


2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Yuan Fang ◽  
Xuemei Wu ◽  
Lin Li ◽  
Jinhong Zhu ◽  
Haiyan Wu ◽  
...  

Abstract TP53 is a tumor suppressor gene that regulates cell growth, apoptosis and DNA repair. Previous studies have reported the contribution of TP53 Arg72Pro (rs1042522 C&gt;G) polymorphism to pathogenesis of multiple tumors. Hence, we evaluated the association between this polymorphism and neuroblastoma susceptibility in eastern Chinese children. The Taqman genotyping assay was performed in 373 patients and 762 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association. No significant association was found between the TP53 gene rs1042522 C&gt;G polymorphism and neuroblastoma susceptibility in the overall analysis (CG vs. CC: adjusted OR = 0.92, 95% CI = 0.70–1.22, P=0.567; GG vs. CC: adjusted OR = 0.99, 95% CI = 0.69–1.42, P=0.947; CG/GG vs. CC: adjusted OR = 0.94, 95% CI = 0.72–1.23, P=0.639; or GG vs. CC/CG: adjusted OR = 1.04, 95% CI = 0.75–1.43, P=0.814) and stratified analysis by age, gender, sites of origin, and clinical stages. The TP53 gene rs1042522 C&gt;G polymorphism may not be a risk factor for neuroblastoma in eastern Chinese children. Future studies are needed to confirm this negative result and to reveal additional functional TP53 variants predisposing to neuroblastoma.


2019 ◽  
Vol 12 (10) ◽  
pp. 1282-1288 ◽  
Author(s):  
Le Li ◽  
Jinhong Zhu ◽  
Tongyi Lu ◽  
Wei Liu ◽  
Jue Tang ◽  
...  
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