Association between genetic variants in microRNA biosynthesis genes and the risk of head and neck squamous cell carcinoma

Objective To investigate the association between genetic variants in microRNA biosynthesis genes and the risk of head and neck squamous cell carcinoma (HNSCC). Methods A case-control study was conducted with 576 HNSCC patients and 1 552 healthy controls matched by factors as age-(±5 years) and sex. Eight potentially functional single nucleotide polymorphism loci in microRNA biosynthesis genes (DICER1, GEMIN3, and PIWIL1) were genotyped using the Illumina Infinium BeadChip platform. Univariate and multivariate logistic regression models were performed to assess the association between genotypes and HNSCC risk. Results The allele frequencies of rs1106042 (G> A) in PIWIL1 were significantly different between the cases and controls (P=0.011). After controlling for factors as age, sex, smoking and alcohol intake, the A allele of rs1106042 showed a decreased risk of HNSCC (additive model: adjusted OR=0.73, 95% CI: 0.57-0.93, P=0.011). Results from the stratification analysis by age, sex, smoking, alcohol intake and tumor sites showed that the effect of rs1106042 A allele on HNSCC risk was significant in older age groups (≥60), females, nonsmokers, non-alcohol drinkers, and subjects with oral cavity cancer (P<0.05). Conclusion Potentially, functional single nucleotide polymorphism in PIWIL1 might modify the risk of HNSCC in China. Key words: Head and neck squamous cell carcinoma; microRNA; Single nucleotide polymorphism; PIWIL1; Case-control study