Medical University of Silesia, Katowice, Poland.
J Cancer Res Clin Oncol. 2024 Jun 7;150(6):295. doi: 10.1007/s00432-024-05820-4.
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.
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.
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.
Our results provide further information on the role of the DIAPH2 gene in the pathogenesis of LSCC.
DIAPH2 基因是与喉鳞状细胞癌（LSCC）相关的基因之一。在我们的研究中，我们考虑了该基因的四个多态性，即 rs5920828、rs4322175、rs12851931 和 rs5921830，作为 LSCC 的潜在遗传风险因素。
我们对 230 名经组织学证实患有 LSCC 的男性患者与欧洲人群进行了 DIAPH2 基因遗传变异的基因分型。检查了每位受试者的人口统计学和环境暴露数据。为了进行遗传检测，我们对每个患者进行了所有四个变体的基因分型，并确定了它们的频率。
在 DIAPH2 基因的 rs12851931 多态性方面，根据多态性，T 期的分布存在显著差异。杂合子更常与 T2 期相关，而纯合子更可能处于更高的肿瘤期。DIAPH2 的 rs12851931 纯合子在吸烟者中更为普遍。结果表明，DIAPH2 中的 rs12851931 多态性可能增加 LSCC 的发病风险。
我们的结果提供了关于 DIAPH2 基因在 LSCC 发病机制中的作用的进一步信息。
