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膀癌的过程,四种高风险的遗传变异,以及他的病理学发现

Thura Kadhum^1,2, Silvia Selinski¹, Meinolf Blaszkewicz¹

¹Leibniz Research Centre for Working Environment and Human Factors at TU Dortmund (IfADo), Dortmund, Germany.

|September 18, 2023

概括

这项研究发现,四种特定的遗传变异 (SNP) 不会显著影响患膀癌的风险,包括肌肉侵入性膀癌 (MIBC) 和非肌肉侵入性膀癌 (NMIBC). 这些发现表明,这些特定的SNP对于区分膀癌亚型并不有用.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
流行病学流行病学

背景情况:

膀癌与吸烟和职业暴露有关.
全基因组关联研究 (GWAS) 已经确定了膀癌的遗传风险因素.
很少有研究根据疾病侵入性 (MIBC与NMIBC) 区分遗传风险.

研究的目的:

调查四个GWAS识别的单核酸多态 (SNP) 与膀癌风险的关联.
确定这些SNP是否区分肌肉侵入性膀癌 (MIBC) 和非肌肉侵入性膀癌 (NMIBC) 的风险.

主要方法:

病例控制研究涉及712名膀癌患者和875名来自德国的对照.
使用实时聚合酶链反应进行四种特定SNP (PSCA rs2294008, rs2978974; FGFR3-TACC3 rs798766; CBX6-APOBEC3A rs1014971) 的基因定型.
在整个队列和MIBC和NMIBC子组内分析SNP分布.

主要成果:

在膀癌病例和对照人群之间,没有发现四个研究的SNP分布的显著差异.
国家统计计划在不同地理分组 (包括工业化和非工业化地区) 中没有显著的差异.
没有观察到SNP与MIBC和NMIBC亚组之间的差异之间存在显著的关联.

结论:

四个研究的SNP (与TACC3,FGFR3,PSCA,CBX6,APOBEC3A相关) 似乎不是研究的德国人群中膀癌的重要风险因素.
这些特定的遗传标记不能帮助区分肌肉侵入性和非肌肉侵入性膀癌.
可能需要进一步的研究来确定影响膀癌侵袭性的遗传因素.

关键词:

在CBX6-APOBEC3A基因区域 rs1014971 在 FGFR3-TACC3 基因区域 rs79876666 PSCA 基因 rs2294008 和 rs297897474 两种情况.肌肉侵入性膀癌 (MIBC) 是一种癌症.非肌肉侵入性膀癌 (NMIBC) 是一种非肌肉侵入性膀癌.

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