Lutheran血型BCAM基因在KIRC中的生物信息学研究  

Bioinformatics study of Lutheran blood type BCAMgene in KIRC

作　　者：周仁龙 张勇刚 黄馥玲 黄国清 陈荣贵 唐丹丹 ZHOU Renlong;ZHANG Yonggang;HUANG Fuling;HUANG Guoqing;CHEN Ronggui;TANG Dandan(Department of Blood Transfusion,Shenzhen Longhua District Central Hospital,Shenzhen,518100,China;Department of Clinical Laboratory,Shenzhen Longhua District Central Hospital;Department of Scientific Research,Shenzhen Longhua District Central Hospital;Shenzhen Medical Group Headquarters,Nanshan District)

机构地区：[1]深圳市龙华区中心医院输血科,广东深圳518100 [2]深圳市龙华区中心医院检验科 [3]深圳市龙华区中心医院科研科 [4]深圳市南山区医疗集团总部

出　　处：《临床血液学杂志》2024年第10期689-695,共7页Journal of Clinical Hematology

基　　金：广东省自然科学基金面上资助项目(No:2022A1515012542)。

摘　　要：目的:基于生物信息学研究Lutheran血型基底细胞黏附分子基因(basal cell adhesion molecule,BCAM)在肾透明细胞癌(kidney renal clear cell carcinoma, KIRC)中的表达及临床意义。方法:从UCSC Xena数据门户(https://xenabrowser.net/)下载经统一标准化的泛癌数据集:TCGA Pan-Cancer(PANCAN,n=10 535,G=60 499)以及临床随访数据。使用Sangerbox、GEPIA和UALCAN等数据库进行综合分析,评估Lutheran血型BCAM基因在KIRC中的表达水平及其在临床预后中的潜在价值。结果:Lutheran血型BCAM基因在不同肿瘤存在着表达差异,BCAM在14种肿瘤中观察到了显著上调(P<0.05),在12种肿瘤中观察到了显著下调(P<0.05),其中BCAM在KIRC组织中mRNA表达水平显著低于正常组织(6.59±0.94 vs 8.48±1.69,P<0.05)。在KIRC中BCAM低表达与高级别的肿瘤分期、分级、淋巴结转移和远处转移等不良临床特征密切相关(P<0.05)。BAP1基因在KIRC中具有广泛的突变(突变率34.7%),与高表达组比较BCAM在低表达组的突变频率显著高于高表达组。生存分析表明,BCAM表达水平与KIRC总生存期呈显著正相关(P<0.05)。基于单因素Cox和多因素Cox回归结果分析低表达BCAM是KIRC预后危险因素。结论:Lutheran血型BCAM基因在多数KIRC中表达水平较低,与KIRC的发生、发展以及不良预后相关,有望作为KIRC诊疗、预后评判的重要指标。Objective: To study the expression of Lutheran blood group basal cell adhesion molecule(BCAM) gene in Kidney renal clear cell carcinoma(KIRC) based on bioinformatics KIRC expression and its clinical significance. Methods: The unified and standardized Pan-Cancer dataset TCGA Pan-cancer(PANCAN, n=10 535, G=60 499) and clinical follow-up data were downloaded from the UCSC Xena data portal(https://xenabrowser. net/). Sangerbox, GEPIA and UALCAN databases were used for comprehensive analysis to evaluate the expression level of Lutheran BCAM gene in KIRC and its potential value in clinical prognosis. Results: Lutheran blood type BCAM gene expression was different in different tumors. BCAM was significantly up-regulated in 14 tumors(P<0.05), and significantly down-regulated in 12 tumors(P<0.05). The expression of BCAM mRNA in KIRC tissues was significantly lower than that in normal tissues(6.59±0.94 vs 8.48±1.69, P<0.05). The low expression of BCAM in KIRC was closely related to high tumor stage, grade lymph node metastasis and distant metastasis(P<0.05). The BAP1 gene was widely mutated in KIRC with a mutation rate of 34.7%. The mutation frequency of BCAM in KIRC with low BAP1 expression was significantly higher than that in KIRC with high BAP1 expression. Survival analysis showed that the expression level of BCAM was positively correlated with the overall survival of KIRC(P<0.05). Based on univariate Cox and multivariate Cox regression analysis, low expression of BCAM was a risk factor for the prognosis of KIRC. Conclusion: Lutheran BCAM gene was low expressed in most KIRC, which might be related to the occurrence, development and poor prognosis of KIRC. It might be used as an important indicator for the diagnosis and treatment of KIRC.

关 键 词：Lutheran血型 基底细胞黏附分子基因 肾透明细胞癌 生物信息学 

分 类 号：R457[医药卫生—治疗学]