Get access

Gene copy number variation and common human disease

Authors

  • M Fanciulli,

    1. Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, W12 0NN, UK
    Search for more papers by this author
  • E Petretto,

    1. Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, W12 0NN, UK
    2. Department of Epidemiology and Public Health, Faculty of Medicine, Imperial College, Norfolk Place, London, W2 1 PG, UK
    Search for more papers by this author
  • TJ Aitman

    Corresponding author
    1. Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, W12 0NN, UK
    Search for more papers by this author

Timothy J. Aitman, Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.
Tel: +44-(0)208 383 4253/8336;
fax: +44-(0)208 383 8577;
e-mail: t.aitman@csc.mrc.ac.uk

Abstract

Fanciulli M, Petretto E, Aitman TJ. Gene copy number variation and common human disease.

Variation in gene copy number is increasingly recognized as a common, heritable source of inter-individual differences in genomic sequence. The role of copy number variation is well established in the pathogenesis of rare genomic disorders. More recently, germline and somatic copy number variation have been shown to be important pathogenic factors in a range of common diseases, including infectious, autoimmune and neuropsychiatric diseases and cancer. In this review, we describe the range of methods available for measuring copy number variants (CNVs) in individuals and populations, including the limitations of presently available assays, and highlight some key examples of common diseases in which CNVs have been shown clearly to have a pathogenic role. Although there has been major progress in this field in the last 5 years, understanding the full contribution of CNVs to the genetic basis of common diseases will require further studies, with more accurate CNV assays and larger cohorts than have presently been completed.

Ancillary