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

Overview

Journal Science

Specialty Science

Date 2007 Feb 10

PMID 17289997

Citations 922

Authors

Barbara E Stranger

Matthew S Forrest

Mark Dunning

Catherine E Ingle

Claude Beazley

Natalie Thorne

Richard Redon

Christine P Bird

Anna De Grassi

Charles Lee

Chris Tyler-Smith

Nigel Carter

Stephen W Scherer

Simon Tavare

Panagiotis Deloukas

Matthew E Hurles

Emmanouil T Dermitzakis

Affiliations

Soon will be listed here.

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.

Citing Articles

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