Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.

ABSTRACT: A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation¹. Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature^2-5, it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations. Here, we develop and validate genome-wide polygenic scores for five common diseases. The approach identifies 8.0, 6.1, 3.5, 3.2, and 1.5% of the population at greater than threefold increas

SUBMITTER: Khera AV 

PROVIDER: S-EPMC6128408 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature