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ALKBH5 Gene Polymorphisms and Hepatoblastoma Susceptibility in Chinese Children.

ABSTRACT: Incidence of hepatoblastoma has been increasing, but the causes of this disease remain unclear. Some studies have suggested that abnormal expressions of ALKBH5 gene are associated with multiple cancers. This study aims to test the hypothesis that hepatoblastoma risk may be modulated by genetic polymorphisms in ALKBH5 gene based on genotyped data from samples of 328 cases and 1476 controls enrolled from eight hospitals in China. We used TaqMan assay to genotype ALKBH5 gene single nucleotide polymorphisms (SNPs) rs1378602G > A and rs8400G > A. We calculated the odds ratios (ORs) and P values using logistic regression models to estimate the association between hepatoblastoma risk and ALKBH5 gene SNPs. We found the rs1378602G > A and rs8400G > A could not impact hepatoblastoma risk in single or combined analysis. Stratified analysis revealed that subjects with the rs8400 AA genotype are prone to getting hepatoblastoma in the clinical stage III + IV subgroup (adjusted OR = 1.93, 95% CI = 1.20-3.10, P=0.007), when compared to those with GG/GA genotype. False-positive report probability validated the reliability of the significant results. Preliminary functional annotations revealed that rs8400 A is correlated with increased expression of ALKBH5 gene in the expression quantitative trait locus (eQTL) analysis. In all, our investigation presents evidence of a weak impact of ALKBH5 gene polymorphisms on hepatoblastoma risk, using the largest hepatoblastoma sample size. These findings shed some light on the genetic basis of hepatoblastoma, implicating the role of ALKBH5 gene polymorphisms in the etiology of hepatoblastoma.

SUBMITTER: Ren H

PROVIDER: S-EPMC7997766 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Hepatoblastoma is one of the malignant liver tumors in children. However, genetic mechanisms underpinning the initiation of hepatoblastoma remain largely unclear. The previous study showed that lin-28 homolog B (LIN28B) might play a role in the development of hepatoblastoma. To detect the association between LIN28B gene polymorphisms and hepatoblastoma risk in Chinese children, we conducted a five-center case-control study of 275 hepatoblastoma patients and 1018 cancer-free controls. Four potentially functional polymorphisms were genotyped using the Taqman method. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the strength of the associations. We found that the rs314276 C>A polymorphism (AA vs. CC: adjusted OR=2.05, 95% CI=1.36-3.10, P=0.0006; AA vs. CA/CC: adjusted OR=2.11, 95% CI=1.43-3.12, P=0.0002) and rs9404590 T>G (GG vs. TT: adjusted OR=1.89, 95% CI=1.20-3.00, P=0.007; GG vs. TT/TG: adjusted OR=1.87, 95% CI=1.20-2.92, P=0.006) were associated with increased hepatoblastoma risk. Combination analysis of risk genotypes showed that patients with four risk genotypes had a higher chance of developing hepatoblastoma than carriers of 1 to 3 risk genotypes. Stratification analysis showed the significant association between the rs314276 AA genotype and hepatoblastoma risk in both age and sex groups, as well as clinical stages III+IV cases. The rs9404590 GG genotype was associated with hepatoblastoma risk in participants' ?17 months, in females, and for those with clinical stages III+IV disease. Furthermore, four risk genotypes confer higher hepatoblastoma susceptibility in both age and sex groups, as well as groups with clinical stages III+IV disease. Genotype-based gene expression analysis confirmed that the rs9404590 T>G polymorphism was significantly associated with altered LIN28B gene expression. We further validated our findings using false-positive probability analysis. This finding suggested that LIN28B gene polymorphisms may be associated with an increased predisposition to hepatoblastoma.

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ALKBH5 Gene Polymorphisms and Hepatoblastoma Susceptibility in Chinese Children.

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