DIAPH2 gene polymorphisms and laryngeal cancer risk in men

• Published in: Journal of cancer research and clinical oncology Vol. 150; no. 6; p. 295
• Main Authors: Cichocka, Edyta, Górczyńska-Kosiorz, Sylwia, Misiołek, Maciej, Ścierski, Wojciech, Koniewska, Anna, Stryjewska-Makuch, Grażyna, Gumprecht, Janusz
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 07.06.2024; Springer Nature B.V
• Subjects: Adult; Aged; Cancer Research; Carcinoma, Squamous Cell - genetics; Carcinoma, Squamous Cell - pathology; DNA; environmental exposure; Formins - genetics; Gene polymorphism; genes; Genetic diversity; Genetic Predisposition to Disease; Genetic screening; Genotype; Genotyping; Hematology; heterozygosity; Heterozygotes; homozygosity; Homozygotes; Humans; Internal Medicine; Laryngeal cancer; Laryngeal carcinoma; laryngeal neoplasms; Laryngeal Neoplasms - epidemiology; Laryngeal Neoplasms - genetics; Laryngeal Neoplasms - pathology; larynx; Male; males; Medicine; Medicine & Public Health; Middle Aged; Oncology; pathogenesis; patients; Polymorphism; Polymorphism, Single Nucleotide; risk; Risk Factors; Squamous cell carcinoma; Genetic factor; gene polymorphisms; Laryngeal cancer risk; DIAPH2 gene polymorphisms
• ISSN: 1432-1335; 0171-5216; 1432-1335
• DOI: 10.1007/s00432-024-05820-4

Background The DIAPH2 gene is one of the genes commonly associated with laryngeal squamous cell carcinoma (LSCC). In our study, we considered the four polymorphisms of this gene, i.e. rs5920828, rs4322175, rs12851931 and rs5921830 as potential genetic risk factors for LSCC. Methods We determined the genotyping of the genetic variants of DIAPH2 in 230 male patients with histologically confirmed LSCC compared to the European population. Demographic and environmental exposure data of each subject were examined. To conduct the genetic tests, extraction of total DNA was performed. We genotyped all four variants in each patient and determined their frequencies. Results In the case of the rs12851931 polymorphism in the DIAPH2 gene, a significant difference was observed in the distribution of the T stage depending on the polymorphism. Heterozygotes were more often associated with T2 stage, while homozygotes were more likely to have higher tumor stages. The rs12851931 homozygotes of DIAPH2 were statistically significantly more prevalent in smokers. The results suggested that rs12851931 polymorphism in DIAPH2 could increase the onset risk of LSCC. Conclusions Our results provide further information on the role of the DIAPH2 gene in the pathogenesis of LSCC.