Association between MDM2 rs2279744, MDM2 rs937283, and p21 rs1801270 polymorphisms and retinoblastoma susceptibility

Cao, Qixin; Wang, Yun; Song, Xiaohui; Yang, Weihua

doi:10.1097/md.0000000000013547

Cited by 8 publications

(5 citation statements)

References 32 publications

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“…In their study, the G allele was associated with an increased risk of developing GC either when G carriers vs. AA (OR, 1.34; P=0.024), and despite not being statistically significant, an association was observed for GG vs. A carriers (OR, 1.87; P=0.061). This SNP has been described to significantly enhance the transcriptional activity of the MDM2 gene increasing the mRNA and protein levels, and additionally, this polymorphism has been studied in other types of cancer, such as lung cancer (26), liver cancer (39) and retinoblastoma (40), with similar effects reported.…”

Section: Discussionmentioning

confidence: 88%

Association of Murine Double Minute 2 polymorphisms with gastric cancer: A systematic review with meta‑analysis

et al. 2021

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Gastric cancer (GC) is the 5th most common type of cancer, with the 3rd highest mortality rate worldwide in both sexes. Murine double minute 2 (MDM2) protein is the major negative regulator of p53, and genetic polymorphisms in this gene have shown to be associated with several types of cancer. In the present study, a literature search was performed using PubMed and Scopus with the following key word combinations 'gastric cancer AND polymorphism AND MDM2'. Studies were carefully revised according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to identify eligible studies that matched the inclusion criteria. Statistical analysis was performed to assess the association between the different genetic polymorphisms and GC risk, by calculating the odds ratios (OR) and the confidence intervals (CI), with a 5% level of significance. A total of 11 manuscripts studied MDM2 polymorphisms in GC: rs937283 (n=1), rs3730485 (n=1) and rs2279744 (n=9). Both the rs937283 and rs3730485 reports showed an association with GC; however, there was only one study on each of these polymorphisms in the literature. A meta-analysis was performed for the rs2279744 polymorphism, of which studies showed a positive association between the G allele and risk of GC, either in the dominant model (OR=1.46; 95% CI 1.21-1.75; P<0.001) or recessive model (OR 1.65; 95% CI 1.45-1.87; P<0.001). In conclusion, genetic polymorphisms in MDM2 seemed to be associated with an increased risk of GC development, nevertheless, the number of studies were relatively low and the studied populations were primarily Chinese. The present meta-analysis emphasizes the need for additional studies in other populations to corroborate the association of these polymorphisms with GC.

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Section: Discussionmentioning

confidence: 88%

Association of Murine Double Minute 2 polymorphisms with gastric cancer: A systematic review with meta‑analysis

et al. 2021

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“…It is likely that C-to-T transition in rs1059234 could increase p21 mRNA expression by preventing degradation of mRNA, and thus possess a greater ability to control ROS levels in response to oxidative stress, ultimately reducing the loss of the mtDNA copy number caused by exposure to COEs. Moreover, the rs1801270 is a C-to-A transversion occurring in codon 31 of p21 gene that causes an amino acid substitution from serine to arginine, which is expected to affect the DNA binding zinc finger domain of protein, eventually affecting expression and activity of p21 ( 39 ). Our study showed that the rs1801270 was in strong linkage disequilibrium with the rs1059234, which suggests genotypes in the two loci are strongly correlated ( 35 ).…”

Section: Discussionmentioning

confidence: 99%

The Association Between Polymorphisms in Cell-Cycle Genes and Mitochondrial DNA Copy Number in Coke Oven Workers

Wang

Tan

Wang

et al. 2022

Front. Public Health

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The mitochondrial DNA (mtDNA) copy number is a vital component in maintaining normal mitochondrial function. It is affected by environmental and occupational exposures, as well as polymorphisms in nuclear genes. Nonetheless, the specific roles of polymorphisms in cell-cycle genes and mtDNA copy number are still unknown. This study enrolled a sample of 544 coke oven workers and 238 non-exposed controls so as to assess the effect of exposure of coke oven emissions (COEs) and polymorphisms in cell-cycle genes on the mtDNA copy number. We found that the mtDNA copy number in the exposed group (0.60 ± 0.29) was significantly lower than that in the control group (1.03 ± 0.31) (t =18.931, P < 0.001). The analysis of covariance showed that both the rs1801270 (CA+CC) and the rs1059234 (CT+CC) in p21 gene were associated with lower mtDNA copy number in the exposed group (P = 0.001). Generalized linear models indicated COEs-exposure (β = −0.432, P < 0.001) and rs1059234 (CT+CC) in p21 gene (β = −0.060, P = 0.024) were the factors in mtDNA copy number reduction. In conclusion, this study suggests that the decrease of the mtDNA copy number is associated with COEs-exposure and the rs1059234 (CT+CC) in the p21 gene.

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“…indicated no statistically significant association between p21 rs1801270 polymorphism and susceptibility to RB. 22 …”

Section: Discussionmentioning

confidence: 99%

Association of RB1 rs9568036 and CDKN1A rs1801270 polymorphisms with retinoblastoma susceptibility

et al. 2022

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Purpose: To investigate the association of polymorphisms (rs9568036 and rs1801270) in the RB1 and P21 genes with susceptibility to retinoblastoma (RB). Methods: This case–control study was designed with 50 patients with RB and 50 controls. Polymerase chain reaction was performed to amplify the intron 17 of RB1 rs9568036 and exon 2 of P21 rs1801270. Then, all the amplified fragments were subjected to directional sequencing, and finally, the association between genotypes and the development of RB risk and invasion was studied. Results: A statistically significant difference in genotypic or allele frequencies of single-nucleotide polymorphisms (SNPs) (rs1801270 and rs9568036) was found between Iranian RB patients and the controls ( P > 0.05). However, the frequency of genotype RB1 rs9568036 observed a statically significant difference in the RB patients compared to the control group, and the nonwild-type allele A increased the chance of susceptibility to developing RB by 2.92 times. Conclusion: The rs9568036 SNP in the RB1 gene may increase susceptibility to the development of RB in the affected patients. In spite of that, this polymorphism does not influence RB patient's invasion. Further investigation with a large enough sample size is recommended to validate this hypothesis.

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Association between MDM2 rs2279744, MDM2 rs937283, and p21 rs1801270 polymorphisms and retinoblastoma susceptibility

Cited by 8 publications

References 32 publications

Association of Murine Double Minute 2 polymorphisms with gastric cancer: A systematic review with meta‑analysis

Association of Murine Double Minute 2 polymorphisms with gastric cancer: A systematic review with meta‑analysis

The Association Between Polymorphisms in Cell-Cycle Genes and Mitochondrial DNA Copy Number in Coke Oven Workers

Association of RB1 rs9568036 and CDKN1A rs1801270 polymorphisms with retinoblastoma susceptibility

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