Association between H19 polymorphisms and susceptibility to pediatric central nervous system tumors in Chinese children

Pediatric central nervous system (CNS) tumors comprise a heterogeneous group of malignancies, with gliomas being the predominant tumor type, and genetic susceptibility may contribute to their development. The long noncoding RNA H19 is implicated in tumorigenesis, and its polymorphisms have been associated with several adult and pediatric cancers. However, their relationship with pediatric CNS tumors risk remains unexplored. We conducted a multicenter case‒control study to assess the associations between three H19 polymorphisms (rs2839698 G > A, rs3024270 C > G, and rs217727 G > A) and CNS tumors susceptibility in Chinese children. A total of 314 histologically confirmed CNS tumors patients and 380 age- and sex-matched cancer-free controls were genotyped via the TaqMan assay. Associations were evaluated by calculating odds ratios (ORs) and 95% confidence intervals (CIs) via unconditional logistic regression, with adjustments for age and sex. Stratified analyses by demographic and clinical variables were also performed. No significant associations were found between any of the three polymorphisms and overall CNS tumors risk. Combined analysis of putative risk genotypes also yielded null results. However, in a stratified analysis, carriers of the rs2839698 GA/AA genotypes presented a significantly increased risk of embryonal tumors compared with those with the GG genotype (adjusted OR = 4.81, 95% CI = 1.02–22.62, P = 0.047). Our findings suggest that the studied H19 polymorphisms are not major susceptibility loci for pediatric CNS tumors in the current Chinese population. The potential association with embryonal tumors requires validation in larger cohorts. Future research should focus on genome-wide approaches to comprehensively elucidate the polygenic risk landscape of this childhood cancer.