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Complex Disease

Definition
AI-generated

A complex disease (or complex trait) is influenced by many genetic variants of small to moderate effect together with environment and behavior, rather than following simple Mendelian inheritance from one or a few genes.

Topics

Why it matters in GWAS

GWAS was designed to detect common and low-penetrance contributors to complex disease; findings motivate polygenic models, pathway analyses, and comparison with rare Mendelian forms of related phenotypes.

Example usage

"Type 2 diabetes behaves as a complex disease with hundreds of associated loci of small individual effect."

References

  • Boyle EA, Li YI, Pritchard JK. (2017). An expanded view of complex traits: from polygenic to omnigenic. Cell.

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