心肺健康的多基因预测:亨特研究
Karsten Øvretveit1,2, Marie Klevjer3,4, Ben M Brumpton1,5
1HUNT Center for Molecular and Clinical Epidemiology (MCE), Department of Public Health and Nursing, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
medRxiv : the preprint server for health sciences
|July 17, 2025
概括
开发和验证了一种新的心肺呼吸能力 (CRF) 多基因评分. 高CRF多基因分数 (PGS) 与降低心血管疾病风险和死亡率有关,显示出与高CRF本身相似的好处.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 公共卫生 公共卫生
背景情况:
- 心血管健康 (CRF) 具有重要的遗传基础.
- 低CRF是心血管发病率和死亡率的主要风险因素.
研究的目的:
- 开发和验证CRF的多基因评分 (PGS) (CRFPGS).
- 评估CRFPGS与心血管疾病 (CVD) 和所有原因死亡率之间的关联.
- 假设CRFPGS提供与CRF表型相比的心脏保护益处.
主要方法:
- 开发了多个PGS,使用直接测量CRF的全基因组关联研究 (Trøndelag健康研究,HUNT;n=4,525) 的效果估计.
- 使用贝叶斯回归框架与英国生物银行 (n=65,165) 的独立队列用于PGS开发.
- 在HUNT目标队列 (n=82,109) 中应用了表现最好的PGS,不包括发现样本.
主要成果:
- 在目标人群中,在CRFPGS的底部和顶部分数之间观察到CRF的差异为1.55mL·kg-1·min-1.
- 高CRFPGS与心血管疾病,心肌梗塞,高血压和全因死亡率降低的风险有关.
- 在女性中,CRFPGS也与心力衰竭和缩性心肌病的风险较低有关.
结论:
- 从高质量的表型中获得的CRF的PGS捕获了CRF的临床相关变异.
- CRFPGS与心血管发病率和死亡率降低的风险有关.
- 开发和完善PGS的挑战包括大种群中的表型异质性.
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