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全转录组关联研究确定了与膀癌风险相关的基因

Siting Li^1,2, Jiang Gui¹, Margaret R Karagas²

¹Department of Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.

Scientific reports

|January 9, 2025

概括

这项研究使用了全转录组关联研究 (TWAS) 来将基因表达与膀癌风险联系起来. 四个基因,SLC39A3,ZNF737,FAM53A和PPP1R2,被确定与膀癌的发展有显著关联.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
生物信息学是一种生物信息学.

背景情况:

全基因组关联研究 (GWAS) 已经确定了与膀癌易感性相关的遗传变异.
然而,基因调节在膀癌发展中的作用仍然在很大程度上未被探索.

研究的目的:

研究基因预测基因表达与膀癌风险之间的关联.
通过探索基因调节的功能影响来扩展现有的GWAS发现.

主要方法:

使用PrediXcan.进行了一项全转录组关联研究 (TWAS).
用6180例膀癌病例和5699例对照的全基因组基因型数据预测全血基因表达水平.
使用后勤回归分析来评估基因水平与膀癌风险的关联,并对相关共变量进行调整.

主要成果:

TWAS确定了四个与膀癌症风险显著相关的基因:SLC39A3 (OR=0.91),ZNF737 (OR=0.91),FAM53A (OR=1.09) 和PPP1R2 (OR=1.09).
通过使用错误发现率 (FDR) 校正来对多次测试的控制来评估关联.
进一步评估了单个单核酸多态 (SNP) 和近位点.

结论:

基因调节的基因表达在膀癌的发展中起作用.
这些已识别的基因 (SLC39A3,ZNF737,FAM53A,PPP1R2) 是膀癌预防和治疗策略的潜在目标.

关键词:

膀癌:膀癌是一种癌症.案件控制 - 案件控制.在GWAS中,GWAS就是GWAS.在TWAS中,TWAS就是TWAS.

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