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Polygenic Risk

Meaning

Polygenic Risk refers to the cumulative genetic predisposition to a specific disease or trait that is conferred by the combined effects of numerous genetic variants, each having a small individual effect. Unlike monogenic diseases caused by a single gene mutation, polygenic conditions, such as type 2 diabetes or heart disease, arise from the interaction of hundreds or thousands of single nucleotide polymorphisms (SNPs) across the genome. The Polygenic Risk Score (PRS) is a calculated metric used in personalized medicine to quantify an individual’s inherited genetic likelihood for developing these complex conditions.