Kadhum Thura, Selinski Silvia, Blaszkewicz Meinolf, Reinders Jörg, Roth Emanuel, Volkert Frank, Ovsiannikov Daniel, Moormann Oliver, Gerullis Holger, Barski Dimitri, Otto Thomas, Höhne Svetlana, Hengstler Jan G, Golka Klaus
Leibniz Research Centre for Working Environment and Human Factors at TU Dortmund (IfADo), Dortmund, Germany.
Specialist Clinic for Psychosomatic Rehabilitation, Mittelrhein-Klinik, Boppard - Bad Salzig, Germany.
EXCLI J. 2023 Aug 18;22:867-879. doi: 10.17179/excli2023-5862. eCollection 2023.
Urinary bladder cancer, a smoking and occupation related disease, was subject of several genome-wide association studies (GWAS). However, studies on the course of the disease based on GWAS findings differentiating between muscle invasive bladder cancer (MIBC) and non-muscle invasive bladder cancer (NMIBC) are rare. Thus we investigated 4 single nucleotide polymorphisms (SNPs) detected in GWAS, related to the genes coding for TACC3 (transforming, acidic coiled-coil containing protein 3), for FGFR3 (fibroblast growth factor receptor 3), for PSCA (prostate stem cell antigen) and the genes coding for CBX6 (chromobox homolog 6) and APOBEC3A (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A). This study is based on 712 bladder cancer patients and 875 controls from 3 different case control studies in Germany. The 4 SNPs of interest (PSCA rs2294008 and rs2978974, FGFR3-TACC3 rs798766, and CBX6-APOBEC3A rs1014971) were determined by real-time polymerase chain reaction. The distribution of the 4 SNPs does not vary significantly between cases and controls in the entire study group and in the 3 local subgroups, including two former highly industrialized areas and a region without such history. Also, no significant differences in the bladder cancer subgroups of MIBC and NMIBC were observed. The 4 investigated SNPs do not noticeably contribute differently to the bladder cancer risk for the bladder cancer subgroups of MIBC and NMIBC.
膀胱癌是一种与吸烟和职业相关的疾病，是多项全基因组关联研究（GWAS）的研究对象。然而，基于GWAS结果区分肌肉浸润性膀胱癌（MIBC）和非肌肉浸润性膀胱癌（NMIBC）的疾病进程研究却很少。因此，我们研究了在GWAS中检测到的4个单核苷酸多态性（SNP），它们分别与编码TACC3（转化酸性卷曲螺旋蛋白3）、FGFR3（成纤维细胞生长因子受体3）、PSCA（前列腺干细胞抗原）的基因以及编码CBX6（染色体盒同源物6）和APOBEC3A（载脂蛋白B mRNA编辑酶催化多肽样3A）的基因有关。本研究基于来自德国3项不同病例对照研究的712例膀胱癌患者和875例对照。通过实时聚合酶链反应确定了4个感兴趣的SNP（PSCA rs2294008和rs2978974、FGFR3 - TACC3 rs798766以及CBX6 - APOBEC3A rs1014971）。在整个研究组以及3个本地亚组（包括两个以前高度工业化的地区和一个没有此类历史的地区）中，4个SNP的分布在病例组和对照组之间没有显著差异。此外，在MIBC和NMIBC的膀胱癌亚组中也未观察到显著差异。所研究的4个SNP对MIBC和NMIBC膀胱癌亚组的膀胱癌风险的贡献没有明显差异。
