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Hum Mol Genet. 2016 May 15;25(10):2104-2112. Epub 2016 Feb 29.

Integrated analyses of gene expression and genetic association studies in a founder population.

Author information

1
Department of Human Genetics and.
2
Division of Biology and Medicine, Brown University, Providence, RI 02912, USA and.
3
Pulmonary and Critical Care, Yale School of Medicine, New Haven, CT 06519, USA.
4
Department of Medicine, Section of Cardiology, University of Chicago, Chicago, IL 60637, USA.
5
Department of Human Genetics and, c-ober@genetics.uchicago.edu.

Abstract

Genome-wide association studies (GWASs) have become a standard tool for dissecting genetic contributions to disease risk. However, these studies typically require extraordinarily large sample sizes to be adequately powered. Strategies that incorporate functional information alongside genetic associations have proved successful in increasing GWAS power. Following this paradigm, we present the results of 20 different genetic association studies for quantitative traits related to complex diseases, conducted in the Hutterites of South Dakota. To boost the power of these association studies, we collected RNA-sequencing data from lymphoblastoid cell lines for 431 Hutterite individuals. We then used Sherlock, a tool that integrates GWAS and expression quantitative trait locus (eQTL) data, to identify weak GWAS signals that are also supported by eQTL data. Using this approach, we found novel associations with quantitative phenotypes related to cardiovascular disease, including carotid intima-media thickness, left atrial volume index, monocyte count and serum YKL-40 levels.

PMID:
26931462
PMCID:
PMC5062579
DOI:
10.1093/hmg/ddw061
[Indexed for MEDLINE]
Free PMC Article

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