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Common genetic variants contribute more to rare diseases than previously thought

In rare diseases, rare mutations have long been thought of as the only contributor. Genetic analyses of people with such conditions now suggest that the effects of common genetic variants can stack up and contribute to disease risk.
By
  1. Gerome Breen

    1. Gerome Breen is in the Social, Genetic and Developmental Psychiatry Centre at the Institute of Psychiatry, Psychology, and Neuroscience, King’s College London, London SE5 8AF, UK.

Rare conditions that affect a person's neurodevelopment are thought to arise almost exclusively from rare genetic mutations that greatly disrupt gene function. These mutations have a large effect on biological systems and development and, consequently, have a strong effect on an individual’s traits and risk of developing a disease. By contrast, rare conditions are not thought to arise from common genetic variants, which tend to have much smaller effects. Writing in Nature, Huang et al.1 reveal that common genetic variants related to psychiatric disorders and cognitive traits contribute considerably to the risk of rare neurodevelopmental conditions.

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Nature 636, 304-305 (2024)

doi: https://doi.org/10.1038/d41586-024-03554-4

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Competing Interests

The author declares no competing interests.

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