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Mendelian disorders and multifactorial traits: the big divide or one for all?

Nature Reviews Genetics volume 11, pages 380–384 (2010)Cite this article

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Abstract

For the past century, Mendelian and multifactorial traits have existed at opposite ends of the disease spectrum in humans. Furthermore, the recent emphasis on genome-wide association studies for uncovering variants that underlie common diseases has risked deepening the divide — or has it? Four experienced human geneticists express their views on the changing landscape of human disease studies and the impact of new technologies and study designs on the age-old aim of connecting a genomic variant with its phenotypic consequences.

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Figure 1: Feasibility of identifying genetic variants by risk-allele frequency and strength of genetic effect (odds ratio).

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Authors and Affiliations

  1. Stylianos E. Antonarakis is at the Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, 1211 Geneva, Switzerland; and the University Hospitals of Geneva, 4 Rue Gabrielle-Perret-Gentil, 1211 Geneva, Switzerland. e-mail: Stylianos.Antonarakis@unige.ch,

    Stylianos E. Antonarakis

  2. and the University Hospitals of Geneva, 4 Rue Gabrielle-Perret-Gentil, 1211 Geneva, Switzerland. e-mail: Stylianos.Antonarakis@unige.ch,

    Stylianos E. Antonarakis

  3. Aravinda Chakravarti is at the Center for Complex Disease Genomics, McKusick–Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Broadway Research Building, Suite 579, 733 North Broadway, Baltimore, Maryland 21205, USA. e-mail: aravinda@jhmi.edu,

    Aravinda Chakravarti

  4. Jonathan C. Cohen is at the University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-9052, USA. e-mail: jonathan.cohen@utsouthwestern.edu,

    Jonathan C. Cohen

  5. John Hardy is at the Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, Queen Square, London WC1N 3BG, UK. e-mail: j.hardy@ion.ucl.ac.uk,

    John Hardy

Authors
  1. Stylianos E. Antonarakis
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  2. Aravinda Chakravarti
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  3. Jonathan C. Cohen
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  4. John Hardy
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Competing interests

John Hardy consults on Alzheimer's disease and Parkinson's disease for Eisai and MerckSerono.

Related links

Related links

DATABASES

Human Gene Mutation Database

OMIM

Hirschsprung disease

Marfan syndrome

progressive supranuclear palsy

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Stylianos E. Antonarakis's homepage

Aravinda Chakravarti's homepage

Jonathan C. Cohen's homepage

John Hardy's homepage

AnEUploidy

Frontiers in Genetics

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Antonarakis, S., Chakravarti, A., Cohen, J. et al. Mendelian disorders and multifactorial traits: the big divide or one for all?. Nat Rev Genet 11, 380–384 (2010). https://doi.org/10.1038/nrg2793

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