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基于多基因风险评分的头癌的全现象关联研究,涉及两个大型生物库

Young Chan Lee^1,2, Sang-Hyuk Jung¹, Manu Shivakumar¹

¹Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

|March 15, 2024

概括

这项研究使用全现象关联研究 (PheWAS) 来将头部和部状细胞癌 (HNSCC) 的遗传风险与吸烟和饮酒等生活方式因素联系起来. 研究结果显示,HNSCC和这些疾病之间存在共同的遗传基础.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
流行病学流行病学

背景情况:

观察性研究表明,对头部和部状细胞癌 (HNSCC) 的遗传倾向与各种风险因素有关.
观察性研究设计的局限性需要先进的方法来进行强大的遗传关联分析.

研究的目的:

使用全现象关联研究 (PheWAS) 方法系统地研究与HNSCC遗传倾向相关的表型.
将从基因组变异中获得的多基因风险评分 (PRS) 纳入,以识别与HNSCC相关的特征.
为了提高概括性,在多样化的队列中验证研究结果.

主要方法:

通过使用全基因组关联研究总结统计数据,为HNSCC及其亚型推导出多基因风险得分 (PRS).
通过分析来自英国生物库 (308,492人) 和宾夕法尼亚医学生物库 (PMBB,38,401人) 的基因类型数据和电子健康记录进行了PheWAS.
进行了敏感性分析,包括排除HNSCC病例和MHC位点,以确认关联的稳定性.

主要成果:

HNSCC PRS与包括烟草使用障碍 (OR=1.06),酒 (OR=1.06),与酒精有关的障碍 (OR=1.08),肺气 (OR=1.11),慢性气道阻塞 (OR=1.05) 和肺癌 (OR=1.08) 在内的表型显著相关.
在PMBB队列中复制了相关性.
证实了HNSCC PRS与与吸烟和饮酒有关的生活方式因素之间的重要联系.

结论:

基于PRS的PheWAS在识别HNSCC遗传风险因素和表型特征之间的关联方面是有效的.
这些发现强调了HNSCC病因学中遗传敏感性的重要性.
突出了HNSCC,其他健康状况和生活方式行为之间的共同遗传基础.

关键词:

酒精消费酒精消费酒精消费头癌是头部和部的癌症.人类乳头瘤病毒人类乳头瘤病毒整个现象的关联研究研究.多基因风险评分多基因风险评分.吸烟吸烟吸烟吸烟

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