Abstract: A previous genome-wide association study (GWAS) identified four genetic polymorphisms (rs1027702 near DUSP12 , rs10055201 in IL31RA , rs2619046 in DDX4 , and rs11037575 in HSD17B12  gene) that were associated with neuroblastoma susceptibility, especially for low-risk subjects. The aim of this study was to examine the association between these four polymorphisms and neuroblastoma susceptibility in a Southern Chinese population composed of 256 cases and 531 controls. Overall, among all the polymorphisms, single-locus analysis only revealed significant association between the HSD17B12  rs11037575 C>T polymorphism and neuroblastoma susceptibility (CT vs CC: adjusted odds ratio [OR] =0.71, 95% confidence interval [CI] =0.51–0.97, P =0.030). Moreover, stratified analysis indicated that the rs11037575 T allele was associated with decreased neuroblastoma risk among the children aged 0–18 months (adjusted OR =0.60, 95% CI =0.37–0.97, P =0.036); regarding the tumor site, this polymorphism protected against tumor in the mediastinum (adjusted OR =0.59, 95% CI =0.37–0.94, P =0.025). When risk genotypes were combined, we found that girls with two to four risk genotypes were at a significantly increased risk of neuroblastoma (adjusted OR =1.65, 95% CI =1.03–2.64, P =0.039). In terms of clinical stages, individuals with two to four risk genotypes had a tendency toward the development of stage III/IV diseases (adjusted OR =1.69, 95% CI =1.12–2.54, P =0.012). In conclusion, we verified that the HSD17B12  rs11037575 T allele might negatively associate with neuroblastoma risk. These findings need further validation by prospective studies with larger sample size and different ethnicities.
Keywords: GWAS, HSD17B12 , polymorphism, neuroblastoma, susceptibility