期刊
NATURE
卷 437, 期 7063, 页码 1365-1369出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nature04244
关键词
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资金
- NIGMS NIH HHS [R01 GM081930-08, R01 GM081930] Funding Source: Medline
To study the genetic basis of natural variation in gene expression, we previously carried out genome-wide linkage analysis and mapped the determinants of similar to 1,000 expression phenotypes(1). In the present study, we carried out association analysis with dense sets of single-nucleotide polymorphism ( SNP) markers from the International HapMap Project(2). 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.
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