Role of <i>MDM2</i> 309T&gt;G (rs2279744) and I/D (rs3730485) polymorphisms and haplotypes in risk of papillary thyroid carcinoma, tumor stage, tumor size, and early onset of tumor: A case control study

Maruei‐Milan, Rostam; Heidari, Zahra; Salimi, Saeedeh

doi:10.1002/jcp.27960

Cited by 8 publications

(8 citation statements)

References 32 publications

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“…Similarly, it was reported that expression of MDM2 and MDM4 genes are affected by MDM2 rs2279744 (MDM2 309T>G) and rs3730485 (MDM2 del1518) respectively by MDM4 rs4245739 (MDM4 34091 C>A) variants, the mentioned variants being associated with increased risk for different types of cancer and higher incidence of advanced tumor stages [17][18][19][20]. In contradiction with the abovementioned results, Gansmo LB et al [21] in their study among endometrial cancer patients found that rs3730485 was in strong linkage disequilibrium (LD) with rs2279744 and the variant allele of rs3730485 was associated with reduced cancer risk among patients with the wildtype genotype for rs2279744 [21].…”

Section: Introductionmentioning

confidence: 79%

“…TP53 rs1042522 (TP53 Arg72Pro) was reported to affect the gene and protein function [7,8] due to the fact that the Pro amino acid of p53 protein is weaker for apoptosis induction and also for suppressing cellular transformation compared to Arg amino acid [1]. MDM2 rs2279744 (MDM2 309T>G) and rs3730485 (MDM2 del1518) and MDM4 rs4245739 (MDM4 34091 C>A) variants were reported to influence the genes activity being associated with carcinogenesis and tumor progression [17][18][19][20]. Moreover, the interaction between TP53 rs1042522 and MDM2 rs2279744 [11,13,29] and between MDM2 rs2279744 and rs3730485 [21] was reported.…”

Section: Discussionmentioning

confidence: 99%

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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

Tripon

Iancu

Crauciuc

et al. 2020

JCM

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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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Section: Introductionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

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

Iancu

Crauciuc

et al. 2020

JCM

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“…The complete details of exclusion criteria have been previously described. 22 In this study, there was no marked difference between PTC cases and controls with respect to age and BMI (body mass index), sex, and race. The written informed consents were signed by all the participants in this study.…”

Section: Study Populationmentioning

confidence: 45%

“…One hundred and fifty‐five controls, who had no history of disease were enrolled. The complete details of exclusion criteria have been previously described . In this study, there was no marked difference between PTC cases and controls with respect to age and BMI (body mass index), sex, and race.…”

Section: Methodsmentioning

confidence: 68%

The effect of TP53 and P21 gene polymorphisms on papillary thyroid carcinoma susceptibility and clinical/pathological features

et al. 2020

Self Cite

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Papillary thyroid cancer (PTC) is the most common thyroid malignancy. Genetic polymorphisms of the TP53 and P21 genes are the candidate variants in various cancers development. This study investigated whether the polymorphisms in TP53 (rs1042522) and P21 (rs1059234 and rs1801270) affect the risk of PTC and whether such the genotype of these polymorphisms is associated with pathological and clinical characteristics of PTC. A case–control study was conducted with 286 Iranian people, including 131 PTC cases and 155 healthy controls. The genetic polymorphisms were investigated by the polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP). Our results suggested that TP53‐rs1042522 CC genotype was significantly associated with protection against PTC, in the dominant, recessive and allelic models (OR = 0.4, 95%CI: 0.2–0.8, P = .008; OR = 0.5, 95%CI: 0.3–0.9, P = .01; OR = 0.6, 95%CI: 0.4–0.8, P = .002, respectively). The rs1042522 was associated with PTC patients with tumor size greater than 1 cm in dominant and recessive models (OR = 0.2, 95%CI = 0.04–0.9, P = .04 and OR = 0.3, 95%CI = 0.1–0.7, P = .009, respectively) and was associated with vascular invasion in dominant model (OR = 0.3, 95%CI = 0.1–0.7, P = .01). No correlation was identified between P21 rs1059234 and rs1801270 polymorphisms and risk of PTC and pathological and clinical characteristics of PTC. Genetic variations in rs1042522 might alter the PTC risk, which could affect tumor size and cause lower incidence of vascular invasion in PTC cases. This was the first report suggesting that no correlation was found between P21 rs1059234 and rs1801270 polymorphisms and PTC risk. Thus, more studies with a larger population size and different ethnic groups and functional assays are needed to confirm our results.

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“…Thyroid function may be impaired when there is any defect in thyroid develop-Journal of Behavioral and Brain Science ment and thyroid hormone synthesis [2]. Papillary thyroid carcinoma (PTC) is the most common in endocrine system tumors, and its incidence has increased year by year in recent years, and it is increasingly harmful to human health [3].…”

Section: Introductionmentioning

confidence: 99%

Progress in Research on 5-HTTLPR under Stress and Thyroid Papillary Carcinoma

Luo¹,

Guo²,

Chen³

et al. 2019

JBBS

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The central nervous system plays an important role in regulating thyroid hormone homeostasis. 5-HT is one of the important neurotransmitters involved in energy balance regulation. 5-HT transporters affect 5-HT function by regulating SERT protein expression and transcriptional activity. Based on the biological correlation between thyroid hormone and thyroid tumors, 5-HTTLPR is associated with thyroid tumors under stress. Animal models of thyroid disease have shown that some of the transmitters in the brain's monoaminergic nervous system have changed, and when the monoamine transporter gene expression is altered, it is found that this disorder is more pronounced. This article discusses whether thyroid papillary carcinoma patients are associated with 5-HTTLPR and whether the mechanism of thyroid papillary carcinoma "gene x environment" has an effect. Briefly describe the role of 5-HTTLPR in the development of patients with papillary thyroid carcinoma, and provide a basis for clinical diagnosis and treatment of papillary thyroid cancer.

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Role of MDM2 309T>G (rs2279744) and I/D (rs3730485) polymorphisms and haplotypes in risk of papillary thyroid carcinoma, tumor stage, tumor size, and early onset of tumor: A case control study

Cited by 8 publications

References 32 publications

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

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

The effect of TP53 and P21 gene polymorphisms on papillary thyroid carcinoma susceptibility and clinical/pathological features

Progress in Research on 5-HTTLPR under Stress and Thyroid Papillary Carcinoma

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