Polygenic scores in biomedical research.

Polygenic scores in biomedical research.
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DOI:
10.1038/s41576-022-00470-z
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发表时间:
2022-09
期刊:
Nature reviews. Genetics
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其他
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旨在预防疾病或早期发现和干预的公共卫生战略有可能在全世界促进人类健康。然而,它们的成功取决于确定构成一般人群疾病负担的风险因素。全基因组关联研究(GWAS)表明,在常见的复杂疾病或性状中存在数千种单核苷酸多态性(snp)。通过计算个体携带的性状相关等位基因数量的加权和,可以构建多基因评分(PGS),也称为多基因风险评分(PRS),反映个体对给定表型的估计遗传易感性。在这里,我们请六位专家就这些概率工具的效用、它们的优势和局限性以及为公平使用它们需要克服的剩余障碍发表意见。
Public health strategies aimed at disease prevention or early detection and intervention have the potential to advance human health worldwide. However, their success depends on the identification of risk factors that underlie disease burden in the general population. Genome-wide association studies (GWAS) have implicated thousands of single-nucleotide polymorphisms (SNPs) in common complex diseases or traits. By calculating a weighted sum of the number of trait-associated alleles harboured by an individual, a polygenic score (PGS), also called a polygenic risk score (PRS), can be constructed that reflects an individual’s estimated genetic predisposition for a given phenotype. Here, we ask six experts to give their opinions on the utility of these probabilistic tools, their strengths and limitations, and the remaining barriers that need to be overcome for their equitable use.
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发表时间: 2006-01-04
影响因子: 10.3
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