Gümüş Alper, Sönmez Dilara, Demirkol Şeyda, Tolgahan Hakan Mehmet, Verim Ayşegül, Süoğlu Yusufhan, Yaylım İlhan, Ergen Arzu
Medical Biochemistry Laboratory, Çam Sakura City Hospital, University of Health Sciences, Istanbul, Turkey.
Institute of Health Sciences, Istanbul University, Istanbul, Turkey.
PLoS One. 2024 Dec 3;19(12):e0312576. doi: 10.1371/journal.pone.0312576. eCollection 2024.
The most prevalent head and neck cancer type is laryngeal cancer. Laryngeal cancer susceptibility is increased by a combination of genetic variables and environmental factors. Genetic predispositions that influence the functioning of the immune system can affect tumor development. Our study investigates the impact of alterations in CD40 (rs1883832) and CD40L (rs1126535) genes and the levels of their proteins on the development of laryngeal cancer.
The PCR-RFLP method was used for genotyping SNPs in 96 patients with laryngeal cancer and 127 healthy individuals. Additionally, ELISA was utilized to measure circulating levels of sCD40 and sCD40L.
We identified a significant difference in the genotype distribution of CD40 (rs1883832) between laryngeal cancer patients and healthy individuals (p = 0.05). The C allele was dominant, and the CC genotype was more frequently observed in patients with laryngeal cancer (OR: 2.34, 95% CI: 0.98-5.54). In contrast, no statistically significant difference in the genotypes of CD40L (rs1126535) was detected between laryngeal cancer patients and the control group (p = 0.12). Additionally, no significant differences in serum sCD40 or sCD40L levels were observed between the groups (p = 0.48 and p = 0.15, respectively). However, a moderate positive correlation was found between sCD40 and sCD40L levels in the laryngeal cancer group (r = 0.52, p<0.01), a relationship that was not observed in the control group.
According to the current findings, it is suggested that the CD40 (rs1883832) gene variation found in patients may indicate an individual's susceptibility to developing laryngeal cancer. On the other hand, CD40L (rs1126535) seems to not play a significant role. While serum sCD40 and sCD40L levels did not show significant differences between patients and controls, the correlation in cancer patients suggests that these markers may be relevant in tumor progression. Further research is required to clarify the functional implications of these genetic variants and their potential use as biomarkers for laryngeal cancer.
最常见的头颈癌类型是喉癌。喉癌易感性会因遗传变量和环境因素的综合作用而增加。影响免疫系统功能的遗传易感性会影响肿瘤发展。我们的研究调查了CD40(rs1883832)和CD40L(rs1126535)基因改变及其蛋白水平对喉癌发展的影响。
采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对96例喉癌患者和127名健康个体的单核苷酸多态性(SNP)进行基因分型。此外,利用酶联免疫吸附测定(ELISA)来测量可溶性CD40(sCD40)和可溶性CD40L(sCD40L)的循环水平。
我们发现喉癌患者与健康个体在CD40(rs1883832)的基因型分布上存在显著差异(p = 0.05)。C等位基因占主导,CC基因型在喉癌患者中更常见(优势比:2.34,95%置信区间:0.98 - 5.54)。相比之下,在喉癌患者与对照组之间未检测到CD40L(rs1126535)基因型的统计学显著差异(p = 0.12)。此外,两组之间血清sCD40或sCD40L水平也未观察到显著差异(分别为p = 0.48和p = 0.15)。然而,在喉癌组中发现sCD40和sCD40L水平之间存在中度正相关(r = 0.52,p<0.01),而在对照组中未观察到这种关系。
根据目前的研究结果,提示在患者中发现的CD40(rs1883832)基因变异可能表明个体患喉癌的易感性。另一方面,CD40L(rs1126535)似乎未发挥显著作用。虽然患者与对照组之间血清sCD40和sCD40L水平未显示出显著差异,但癌症患者中的相关性表明这些标志物可能与肿瘤进展相关。需要进一步研究以阐明这些基因变异的功能影响及其作为喉癌生物标志物的潜在用途。