Novel Polygenic Risk Score for Intracranial Aneurysms.
Novel Polygenic Risk Score for Intracranial Aneurysms.
复制标题
颅内动脉瘤的新型多基因风险评分。
DOI：
10.1161/strokeaha.122.041807
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发表时间：
2023
期刊：
影响因子：
8.3
通讯作者：
Cole,JohnW
中科院分区：
文献类型：
--
作者：
Frerich,Simon;Cole,JohnW
自21世纪初完成第一个全基因组关联研究以来，多基因风险预测对研究和临床应用提出了相当大的期望。1尽管对多基因风险评分（PRS）的构建和有效性存在方法上的担忧，2多项研究表明，PRS与疾病状态密切相关，3与PRS相关的研究数量呈指数级增加（基于PubMed搜索术语：“多基因风险评分 *”或“遗传风险评分 *”或“遗传评分 *”或“多基因评分 *”，截至2022年11月23日）。最常见的是，多基因风险评分，也称为遗传风险评分（GRS），代表了基于全基因组关联研究结果的一组定义的风险变体。对于每个个体，将风险等位基因的数量相加并通过其效应大小进行加权。3因此，PRS可以根据个体对特定性状或疾病的遗传易感性来区分个体。
Since the completion of the first genome-wide asso-ciation studies in the early 2000s, polygenic risk prediction has raised considerable expectations for research and clinical use. 1 Despite methodological concerns about construction and validity of polygenic risk scores (PRS), 2 multiple studies have shown that PRS strongly associate with disease status, 3 and the number of studies related to PRS is increasing exponentially (based on a PubMed search for the terms:“polygenic risk score*” OR “genetic risk score*” OR “genetic score*” OR “polygenic score*,” as of 23/11/2022). Most commonly, polygenic risk scores, also known as genetic risk scores (GRS), represent a defined set of risk variants based on findings from genome-wide association studies. For each individual, the number of risk alleles is summed and weighted by its effect size. 3 Therefore, PRS can discriminate individuals based on their genetic susceptibility to a particular trait or disease.