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- Title
Mapping determinants of human gene expression by regional and genome-wide association.
- Authors
Cheung, Vivian G; Spielman, Richard S; Ewens, Kathryn G; Weber, Teresa M; Morley, Michael; Burdick, Joshua T
- Abstract
To study the genetic basis of natural variation in gene expression, we previously carried out genome-wide linkage analysis and mapped the determinants of approximately 1,000 expression phenotypes. In the present study, we carried out association analysis with dense sets of single-nucleotide polymorphism (SNP) markers from the International HapMap Project. For 374 phenotypes, the association study was performed with markers only from regions with strong linkage evidence; these regions all mapped close to the expressed gene. For a subset of 27 phenotypes, analysis of genome-wide association was performed with >770,000 markers. The association analysis with markers under the linkage peaks confirmed the linkage results and narrowed the candidate regulatory regions for many phenotypes with strong linkage evidence. The genome-wide association analysis yielded highly significant results that point to the same locations as the genome scans for about 50% of the phenotypes. For one candidate determinant, we carried out functional analyses and confirmed the variation in cis-acting regulatory activity. Our findings suggest that association studies with dense SNP maps will identify susceptibility loci or other determinants for some complex traits or diseases.
- Publication
Nature, 2005, Vol 437, Issue 7063, p1365
- ISSN
1476-4687
- Publication type
Journal Article
- DOI
10.1038/nature04244