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>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>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>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.
Highlights
Neuroblastoma is the most common extracranial malignant solid tumor in children, affecting 25–50 individuals per million worldwide [1], while approximately 7.7 per million in Chinese subjects [2]
With the advances in the technology, such as genome-wide association study (GWAS), it has been unveiled that germline variations often predispose children to sporadic neuroblastoma, including single-nucleotide polymorphisms (SNPs) in CASC15, BARD1, LMO1, HACE1, LIN28B, MLF1, and CPZ genes [5,6,7,8,9]
TP53 is an important tumor suppressor gene, which is located on the short arm of chromosome 17; p53 protein plays a critical role in regulating cell growth, differentiation, and apoptosis [15]
Summary
Neuroblastoma is the most common extracranial malignant solid tumor in children, affecting 25–50 individuals per million worldwide [1], while approximately 7.7 per million in Chinese subjects [2]. Neuroblastoma accounts for 8–10% of childhood malignancies and 10% of tumor deaths [3]. It is an embryonic tumor originating from the primitive neural crest. Various genomic features including somatic genetic aberrations, chromosome copy number, transcriptomics, and epigenetics have all implicated in neuroblastoma pathogenesis [1]. With the advances in the technology, such as genome-wide association study (GWAS), it has been unveiled that germline variations often predispose children to sporadic neuroblastoma, including single-nucleotide polymorphisms (SNPs) in CASC15, BARD1, LMO1, HACE1, LIN28B, MLF1, and CPZ genes [5,6,7,8,9]
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