title: Relative impact of nucleotide and copy number variation on gene expression phenotypes.
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.
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Stranger
authors.forename: Matthew S
authors.initials: MS
authors.lastname: Forrest
authors.forename: Mark
authors.initials: M
authors.lastname: Dunning
authors.forename: Catherine E
authors.initials: CE
authors.lastname: Ingle
authors.forename: Claude
authors.initials: C
authors.lastname: Beazley
authors.forename: Natalie
authors.initials: N
authors.lastname: Thorne
authors.forename: Richard
authors.initials: R
authors.lastname: Redon
authors.forename: Christine P
authors.initials: CP
authors.lastname: Bird
authors.forename: Anna
authors.initials: A
authors.lastname: de Grassi
authors.forename: Charles
authors.initials: C
authors.lastname: Lee
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Nigel
authors.initials: N
authors.lastname: Carter
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Simon
authors.initials: S
authors.lastname: Tavaré
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Deloukas
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
mesh_terms: D002460:Cell Line; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D005786:Gene Expression Regulation; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D023281:Genomics / Q000379:methods; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis