Abstract

Neuroblastoma is a common pediatric extra-cranial tumor of the sympathetic nervous system. XRCC1 is a scaffold protein that participates in DNA single-strand break repair by complexing with other proteins. XRCC1 gene polymorphisms are being increasingly explored in cancer epidemiology studies. However, the contribution of XRCC1 gene polymorphisms to neuroblastoma risk remains unclarified. Herein, we conducted a case-control study with 393 neuroblastoma patients and 812 controls to explore the association of XRCC1 gene polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) with neuroblastoma risk. Results showed that none of the studied polymorphisms was associated with neuroblastoma risk. However, individuals with 2 risk genotypes seemed to be at significantly higher risk for neuroblastoma compared with those without risk genotype (adjusted odds ratio=1.69; 95% confidence interval=1.06-2.69). Stratified analysis revealed that the XRCC1 rs25489 CT/TT was strongly associated with reduced risk of neuroblastoma in the children ≤ 18 months of age and subgroup with clinical stage I+II+4s diseases, compared with CC genotypes. We also identified an increased neuroblastoma risk for carrier of 2-3 risk genotypes among children ≤ 18 months of age and subgroup with clinical stage I+II+4s. More evidence of the association between XRCC1 gene polymorphisms and neuroblastoma risk is needed.

Highlights

  • Neuroblastoma is an extracranial solid tumor of the developing sympathetic nervous system [1, 2]

  • In analyzing the combined effect of risk genotypes, we found that subjects carrying 2 risk genotypes had a significantly increased neuroblastoma risk at an adjusted odds ratio (OR) of 1.69 [95% confidence interval (CI)=1.06-2.69] when compared with those carrying 0 risk genotype

  • With the 0-1 risk genotypes as the reference group, the presence of 2-3 risk genotypes was associated with an elevated neuroblastoma risk among children ≤ 18 months of age and those with clinical stage I+II+4s tumor

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Summary

Introduction

Neuroblastoma is an extracranial solid tumor of the developing sympathetic nervous system [1, 2]. This disease is the most common cancer in children under age of 1 year old, and accounts for about 7% of all childhood malignancies [2]. The prognosis of neuroblastoma varies greatly from spontaneous regression without chemotherapy to aggressive, incurable disease [3, 4]. 50% of affected children are diagnosed with a localized low- or intermediate- risk disease while rest of patients are of www.aging-us.com Genotype Cases (N=393) Controls (N=812) P a. Adjusted OR (95% CI) b rs1799782 G>A GG GA AA

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