E2F1 和 E2F2 单核苷酸多态性与喉鳞状细胞癌病理形态特征的关系。

The association of E2F1 and E2F2 single nucleotide polymorphisms with laryngeal squamous cell carcinoma pathomorphological features.

机构信息

Department of Otorhinolaryngology, Lithuanian University of Health Sciences, Kaunas, Lithuania.

Oncology Research Laboratory, Oncology Institute, Lithuanian University of Health Sciences, Kaunas, Lithuania.

出版信息

BMC Cancer. 2024 Feb 15;24(1):214. doi: 10.1186/s12885-024-11953-z.

DOI:10.1186/s12885-024-11953-z

PMID:38360622

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10870611/

Abstract

BACKGROUND

Laryngeal squamous cell carcinoma (LSCC) is one of the most common types of cancer in the upper respiratory tract. It is well-known that it has a high mortality rate and poor prognosis in advanced stages. There are well-known risk factors for LSCC, though new specific and prognostic blood-based markers for LSCC development and prognosis are essential. The current study aimed to evaluate the impact of four different single nucleotide polymorphisms (SNPs), E2F1 (rs3213183 and rs3213180) and E2F2 (rs2075993 and rs3820028), on LSCC development, morphological features, and patient 5-year survival rate.

METHODS

A total of 200 LSCC patients and 200 controls were included in this study; both groups were matched by age and sex. In the present study, we analyzed four single nucleotide polymorphisms (SNPs) in the genes E2F1 (rs3213183 and rs3213180) and E2F2 (rs2075993 and rs3820028) and evaluated their associations with the risk of LSCC development, its clinical and morphological manifestation, and patients 5-year survival rate. Genotyping was carried out using RT-PCR.

RESULTS

None of the analyzed SNPs showed a direct association with LSCC development. E2F2 rs2075993 G allele carriers (OR = 4.589, 95% CI 1.050-20.051, p = 0.043) and rs3820028 A allele carriers (OR = 4.750, 95% CI 1.088-20.736, p = 0.038) had a statistically significantly higher risk for poor differentiated or undifferentiated LSCC than non-carriers. E2F1 rs3213180 GC heterozygotes were found to have a 3.7-fold increased risk for lymph node involvement (OR = 3.710, 95% CI 1.452-9.479, p = 0.006). There was no statistically significant association between investigated SNPs and patient 5-year survival rate.

CONCLUSIONS

The present study indicates that E2F2 rs2075993 and rs3820028 impact LSCC differentiation, whereas E2F1 rs3213180 - on lymph node involvement.

摘要

背景

喉鳞状细胞癌（LSCC）是上呼吸道最常见的癌症类型之一。众所周知，晚期 LSCC 死亡率高，预后差。LSCC 的已知危险因素很多，但对于 LSCC 的发展和预后，新型特异性和预后性血液标志物非常必要。本研究旨在评估四个不同的单核苷酸多态性（SNP），E2F1（rs3213183 和 rs3213180）和 E2F2（rs2075993 和 rs3820028）对 LSCC 发展、形态特征和患者 5 年生存率的影响。

方法

本研究共纳入 200 例 LSCC 患者和 200 例对照，两组按年龄和性别匹配。本研究分析了 E2F1（rs3213183 和 rs3213180）和 E2F2（rs2075993 和 rs3820028）基因中的四个单核苷酸多态性（SNP），并评估了它们与 LSCC 发病风险、临床和形态表现以及患者 5 年生存率的关系。采用 RT-PCR 进行基因分型。

结果

未发现分析的 SNP 与 LSCC 发展有直接关联。E2F2 rs2075993G 等位基因携带者（OR=4.589，95%CI 1.050-20.051，p=0.043）和 rs3820028A 等位基因携带者（OR=4.750，95%CI 1.088-20.736，p=0.038）分化差或未分化 LSCC 的风险明显高于非携带者。E2F1 rs3213180GC 杂合子的淋巴结受累风险增加 3.7 倍（OR=3.710，95%CI 1.452-9.479，p=0.006）。未发现调查 SNP 与患者 5 年生存率之间存在统计学显著关联。