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Association of p53 rs1042522, MDM2 rs2279744, and p21 rs1801270 polymorphisms with retinoblastoma risk and invasion in a Chinese population.

Published version
Peer-reviewed

Type

Article

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Authors

Chen, Rongxin 
Liu, Shu 
Ye, Huijing 
Li, Jiali 
Du, Yi 

Abstract

Single nucleotide polymorphisms (SNPs) of p53 rs1042522, MDM2 rs2279744 and p21 rs1801270, all in the p53 pathway, which plays a crucial role in DNA damage and genomic instability, were reported to be associated with cancer risk and pathologic characteristics. This case-control study was designed to analyse the association between these SNPs and retinoblastoma (RB) in a Chinese Han population. These SNPs in 168 RB patients and 185 adult controls were genotyped using genomic DNA from venous blood. No significant difference was observed in allele or genotypic frequencies of these SNPs between Chinese RB patients and controls (all P > 0.05). However, the rs1042522 GC genotype showed a protective effect against RB invasion, as demonstrated by event-free survival (HR = 0.53, P = 0.007 for GC versus GG/CC). This effect was significant for patients with a lag time >1 month and no pre-enucleation treatment (P = 0.007 and P = 0.010, respectively), indicating an interaction between p53 rs1042522 and clinical characteristics, including lag time and pre-enucleation treatment status. Thus, the rs1042522 SNP may be associated with RB invasion in the Han Chinese population; however, further large and functional studies are needed to assess the validity of this association.

Description

Keywords

Adult, Asian People, China, Cyclin-Dependent Kinase Inhibitor p21, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Kaplan-Meier Estimate, Male, Polymorphism, Single Nucleotide, Proportional Hazards Models, Proto-Oncogene Proteins c-mdm2, Retinoblastoma, Risk Factors, Tumor Suppressor Protein p53

Journal Title

Sci Rep

Conference Name

Journal ISSN

2045-2322
2045-2322

Volume Title

5

Publisher

Springer Science and Business Media LLC