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Genetic variations in the base excision repair pathway and susceptibility to Wilms tumor in eastern Chinese children:
Bo Shao1, Chunlei Zhou2, Haixia Zhou3
1Department of Pathology, Anhui Provincial Children's Hospital, Hefei 230051, Anhui, China.
Background:
Wilms tumor (WT) is the most common embryonal kidney cancer in children, and the base excision repair (BER) mechanism is crucial for repairing DNA damage from reactive oxygen species. Genetic polymorphisms in BER genes may impact cancer risk by affecting DNA repair capacity.
Methods:
The research included 416 individuals with WT and 936 without the condition, examining 20 single nucleotide polymorphisms (SNPs) in BER genes to determine their correlation with the risk of developing WT, utilizing odds ratios (O. Rs) and 95% confidence intervals (CIs). 20 candidate SNPs in BER pathway genes were genotyped using the TaqMan real-time PCR assay. Bonferroni correction was applied for multiple testing across the 20 examined SNPs.
Results:
Among the 20 examined SNPs, FEN1 rs174538 was associated with increased WT susceptibility under the recessive model and remained statistically significant after Bonferroni correction (adjusted OR = 1.73, 95% CI = 1.30-2.31, P = 0.0002; Bonferroni threshold = 0.0025). PARP1 rs2666428, FEN1 rs4246215, and XRCC1 rs25487 showed nominal associations with WT susceptibility, but these associations did not survive Bonferroni correction. XRCC1 rs3810378 deviated from Hardy-Weinberg equilibrium in controls and was retained in the table for transparency but was not interpreted as a reliable susceptibility signal. Stratified analyses suggested potential subgroup-specific associations; however, these results were exploratory and were not formally corrected for multiple comparisons. eQTL analyses provided preliminary functional annotations in cultured fibroblasts and whole blood, but no robust corresponding kidney-tissue eQTL evidence was identified.
Conclusions:
Our findings suggest that FEN1 rs174538 may be associated with WT susceptibility in Chinese children after correction for multiple testing. Other nominal associations and eQTL findings should be interpreted cautiously as exploratory results. Further independent studies and functional validation in kidney or WT-relevant tissues are warranted.
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