Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
2007
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 variationhas 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 variationin gene expression, respectively, but the signals from the two types of
variationhad 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.
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