开发和复制慢性背痛全基因组多基因风险评分
Yakov A Tsepilov1,2, Elizaveta E Elgaeva1,3, Arina V Nostaeva3
1Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk 630090, Russia.
Journal of personalized medicine
|June 28, 2023
概括
慢性背痛 (CBP) 的新多基因风险评分 (PRS) 显示预测能力有限. 然而,最高的PRS得分表明CBP的风险增加了近两倍.
科学领域:
- 遗传学 是一个遗传学.
- 流行病学 流行病学
- 疼痛医学 医学 疼痛医学
背景情况:
- 慢性背痛 (CBP) 是一种复杂的,遗传性特征,是全球残疾的主要原因.
- 了解CBP的遗传基础对于开发有针对性的干预措施至关重要.
研究的目的:
- 开发和验证慢性背痛 (CBP) 的全基因组多基因风险评分 (PRS).
- 评估PRS对CBP的预测能力和临床关联.
主要方法:
- 进行了一项全基因组关联研究 (GWAS),使用欧洲血统的英国生物库参与者 (N=265,000) 来得出PRS.
- 在一个独立的队列 (TwinsUK) 中验证了PRS.
- 分析了与诊断码 (ICD-10,OPCS-4) 的关联以及基因与环境的相互作用.
主要成果:
- PRS显示出整体预测能力较差 (AUC=0.56),但99个百分点中的个体的CBP风险增加了近两倍 (OR=1.82).
- 在TwinsUK样本中的验证产生了类似的效果大小.
- PRS与心血管疾病,肥胖,代谢特征,脊椎疾病和关节炎有显著的相关性.
结论:
- 开发的PRS由于CBP的复杂性,异质性和多基因性而对CBP的预测能力有限.
- 需要更大的样本大小才能对像CBP这样的复杂特征进行可靠估计的小遗传效应.
- 该PRS可以提供洞察力,了解CBP的遗传倾向的类效应.
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