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American Association for the Advancement of Science, Science, 5813(315), p. 848-853, 2007

DOI: 10.1126/science.1136678

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Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

Journal article published in 2007 by Stranger Be, Barbara E. Stranger, Matthew S. Forrest, Forrest Ms, Mark Dunning ORCID, Ingle Ce, Catherine E. Ingle, Claude Beazley, Natalie Thorne, Richard Redon ORCID, Bird Cp, Christine P. Bird, Anna de Grassi, Charles Lee, Chris Tyler-Smith and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy number variants (CNVs). To determine the overall contribution of CNVs to complex phenotypes, we have performed association analyses of expression levels of 14,925 transcripts with SNPs and CNVs in individuals who are part of the International HapMap project. SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans.