rs2267755 C>T polymorphism decreases neuroblastoma risk in Chinese children.

Neuroblastoma is a highly malignant extracranial solid tumor in pediatrics. ALKBH1 as a recently discovered DNA N6-methyldeoxyadenosine (6mA) demethylase closely links to tumorigenesis. Whether the polymorphism contributes to neuroblastoma risk remains unclear. In the present study, we genotyped the single nucleotide polymorphisms (SNPs) in 402 neuroblastoma patients and 473 healthy controls by TaqMan assay. Odds ratios (ORs) and 95% confidence intervals (CIs) were also calculated to evaluate the strength of the association. Our result exhibited that the rs2267755 C>T (CT vs. CC, adjusted OR=0.69, 95% CI=0.50-0.94, =0.019) is significantly associated with reduced neuroblastoma risk. And its protective effect is particularly significant in children with tumors originating from the retroperitoneal. Combined genotype analysis revealed that carriers with 1-2 protective genotypes are more susceptible to neuroblastoma than those with 3-4 protective genotypes (adjusted OR=0.71, 95% CI=0.53-0.97, =0.028). Moreover, the rs2267755 C>T is significantly associated with messenger RNA (mRNA) expression of and three of its surrounding genes, including , and . These results suggest that the rs2267755 C>T may be a genetic variant to reduce neuroblastoma risk.