The ever-growing body of genome-wide association studies (GWASs) enables development of polygenic risk scores (PRSs). Unlike Mendelian disorders with high penetrance, the effects of common genetic variants are often incremental and non-deterministic for chronic diseases. Despite the generally small effect size, recent research findings indicate that PRSs – a large number of genetic variants put together – can explain a considerable proportion of disease liability. An early landmark study by Khera et al. [1] demonstrated that PRSs derived from a large number of common genetic variants of low penetrance could identify individuals with genetic liability comparable to rare genetic variants.

不断增长的全基因组关联研究 (GWAS) 使得多基因风险评分 (PRS) 的开发成为可能。与高外显率的孟德尔疾病不同，常见遗传变异对慢性疾病的影响通常是增量的且具有不确定性。尽管效应量普遍较小，但最近的研究结果表明，PRS（大量遗传变异的组合）可以解释相当大比例的疾病倾向。 Khera等人的一项早期里程碑式研究。 [1]证明，源自大量低外显率的常见遗传变异的 PRS 可以识别具有与罕见遗传变异相当的遗传倾向的个体。