The role of HEYL and HEY1 single nucleotide polymorphisms in laryngeal squamous cell carcinoma development

Abstract

Background: Laryngeal squamous cell carcinoma (LSCC) is the most common cancer of the head and neck region. Despite the great research effort, the role of potential behavioral and genetic risk factors remains unclear. Therefore, it is essential to search for genetic factors that could contribute to earlier diagnostics and help improve patient survival. Material and Methods: 172 men with diagnosed LSCC were enrolled in this retrospective case-control study with the control group of 220 healthy men. Genomic DNA was extracted from EDTA-preserved peripheral venous blood samples from all individuals. Genotyping of selected polymorphisms HEYL rs41264499 and rs11206478, HEY1 rs2467789 and rs1046472 using real-time PCR was performed at the Oncology Research Laboratory of Oncology Institute at the Lithuanian University of Health Sciences. Statistical data analysis was performed using SPSS v29.0. Results: Our study results show that the HEYL rs41264499 CG genotype carriers had a 1.874-fold increased risk of LSCC (OR = 1.874, CI 95% (1.057-3.323), p = 0.031). Also, it was determined that the G allele carriers of HEYL rs41264499 had an increased risk of LSCC (OR = 1.838, CI 95% (1.055-3.203), p = 0.032). Further, HEY1 rs1046472 TT genotype carriers (compared to GG genotype) had an increased odds of LSCC by 2.527-fold (OR=2.527, 95% CI (1.028-6.212), p = 0.043). HEY1 rs1046472 G allele carriers had a reduced likelihood of LSCC compared to the control group (OR = 0.395, 95% CI (0.163-0.955, p = 0.039). Conclusion: HEYL rs41264499 and HEY1 rs1046472 polymorphisms have significant association with LSCC development.