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Common vs. rare allele hypotheses for complex diseases.

Nicholas J Schork1, Sarah S Murray, Kelly A Frazer

  • 1Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States. nschork@scripps.edu

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The genetic basis of common diseases is debated. Two main hypotheses suggest either common genetic variants with low penetrance or rare variants with high penetrance contribute to disease susceptibility.

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Area of Science:

  • Genetics
  • Complex Diseases
  • Disease Susceptibility

Background:

  • Debate exists regarding the genetic underpinnings of common complex diseases like diabetes, osteoporosis, and cancer.
  • Individual susceptibility to these diseases is influenced by genetic factors.
  • Understanding these genetic contributions is crucial for disease prevention and treatment.

Purpose of the Study:

  • To explore the two prominent hypotheses on genetic susceptibility to common complex diseases: the Common Disease, Common Variant (CDCV) and the Common Disease, Rare Variant (CDRV) hypotheses.
  • To discuss the roles of variant frequency and penetrance in disease susceptibility.
  • To highlight the ongoing research efforts in this field.

Main Methods:

  • This study is a review and discussion of existing hypotheses and research.
  • It analyzes the core tenets of the CDCV and CDRV hypotheses.
  • It considers the implications of variant frequency and penetrance in genetic susceptibility.

Main Results:

  • The Common Disease, Common Variant (CDCV) hypothesis posits that common genetic variations with low penetrance are major contributors.
  • The Common Disease, Rare Variant (CDRV) hypothesis suggests that multiple rare DNA variations with high penetrance are the primary drivers.
  • Both hypotheses offer valid perspectives on the genetic architecture of common diseases.

Conclusions:

  • The genetic contribution to common complex diseases is multifaceted.
  • Both common and rare genetic variants likely play a role in disease susceptibility.
  • Further research is needed to fully elucidate the interplay of genetic factors in common diseases.