程序性死亡配体-1（PD-L1）单核苷酸多态性对一组埃及人群中B细胞非霍奇金淋巴瘤发病率的遗传影响。
The Genetic Influence of Programmed Death Ligand-1 (PD-L1) Single Nucleotide Polymorphisms on the Incidence of B-Cell Non-Hodgkin Lymphoma in a Cohort of Egyptians.
作者信息
Hegazi Laila A, El-Masry Manal W, Gouda Heba M, Mattar Mervat M, Hassan Marwa T
机构信息
Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Department of Clinical hematology, Faculty of Medicine, Cairo University, Cairo, Egypt.
出版信息
Asian Pac J Cancer Prev. 2025 Feb 1;26(2):533-539. doi: 10.31557/APJCP.2025.26.2.533.
OBJECTIVE
This study was conducted to investigate the relationship between rs4143815 (C>G) and rs2890658 (A>C) of the PD-L1 (Programmed Death-Ligand 1) gene and the risk of developing non-Hodgkin's lymphoma (B-NHL) in a cohort of Egyptian population.
METHODS
In this case-control study, which included one hundred patients (males and females) diagnosed with B-NHL from Kasr El Aini hematology clinic, their age ranged between 18 and 71 years and 100 age and sex matched healthy controls from outpatient clinic. Three ml venous blood was withdrawn from all subjects and collected in EDTA vacutainer® and kept frozen at -20˚C till time of DNA extraction. DNA samples were extracted from blood samples using GeneJETTM Genomic DNA Purification Kit from Thermo Fisher. Genotyping was determined using Custom TaqMan® SNP Genotyping Assays from Applied biosystems by real-time PCR, and subsequently extensive statistical analysis was performed to investigate the clinical value of these polymorphisms. Patients' clinical information was obtained from patient's medical records.
RESULTS
The obtained results of the current study demonstrated GG genotype of PD-L1 rs4143815 and the CC genotype of PD-L1 rs2890658 were observed to be more prevalent among NHL patients compared to those reported for the healthy controls (62%, 80% vs 58%, 77%), respectively, however these results revealed no significant association between the studied SNPs of PDL1 gene and risk of NHL (p=0.837, *). Regarding survival analysis, results of 36 and 60 months DFS for the common genotype (GG) of rs4143815 versus the combined genotype (GC & CC) were (67%, 44.6% vs 63.8%, 63.8%), respectively (p=0.249) as well as results of 36, 60 months DFS for the common genotype (CC) of rs2890658 versus the combined genotype (AA & AC) revealed (61.5%, 46.1% vs 83.3%, 83.3%), respectively which was statistically insignificant (p=0.599), therefore PDL1 rs4143815 & rs2890658 polymorphisms have no significant impact on patients' DFS.
CONCLUSIONS
Our findings provided the first evidence that PD-L1 rs4143815 (C>G) and rs2890658 (A>C) are not molecular susceptibility markers for B-NHL in Egyptians, at least in the studied population.
目的
本研究旨在调查埃及人群队列中程序性死亡配体1（PD-L1）基因的rs4143815（C>G）和rs2890658（A>C）与非霍奇金淋巴瘤（B-NHL）发病风险之间的关系。
方法
在这项病例对照研究中，纳入了100例在开罗大学艾因夏姆斯医院血液科确诊为B-NHL的患者（男性和女性），年龄在18至71岁之间，以及100名来自门诊的年龄和性别匹配的健康对照。从所有受试者中抽取3ml静脉血，收集到乙二胺四乙酸（EDTA）抗凝真空管中，并保存在-20˚C直至DNA提取时。使用赛默飞世尔科技公司的GeneJETTM基因组DNA纯化试剂盒从血液样本中提取DNA样本。通过实时聚合酶链反应（PCR），使用应用生物系统公司的定制TaqMan®单核苷酸多态性（SNP）基因分型检测试剂盒进行基因分型，随后进行广泛的统计分析以研究这些多态性的临床价值。患者的临床信息从患者的病历中获取。
结果
本研究获得的结果表明，与健康对照相比，PD-L1 rs4143815的GG基因型和PD-L1 rs2890658的CC基因型在NHL患者中更为普遍（分别为62%、80%对58%、77%），然而这些结果显示PDL1基因的研究SNP与NHL风险之间无显著关联（p=0.837，*）。关于生存分析，rs4143815常见基因型（GG）与组合基因型（GC & CC）的36个月和60个月无病生存期（DFS）结果分别为（67%，44.6%对63.8%，63.8%）（p=0.249），以及rs2890658常见基因型（CC）与组合基因型（AA & AC）的36个月、60个月DFS结果分别为（61.5%，46.1%对83.3%，83.3%），差异无统计学意义（p=0.599），因此PDL1 rs4143815和rs2890658多态性对患者的DFS无显著影响。
结论
我们的研究结果首次证明，至少在所研究的人群中，PD-L1 rs4143815（C>G）和rs2890658（A>C）不是埃及人B-NHL的分子易感性标志物。
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