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Characterization of expression quantitative trait loci in extensively phenotyped pedigrees ascertained for bipolar disorder

C. Peterson, S. Service, A. Jasinska, F. Gao, I. Zelaya, T. Teshiba, C. Bearden, V. Reus, G. Macaya, C. López-Jaramillo, M. Bogomolov, Y. Benjamini, E. Eskin, G. Coppola, N. Freimer, C. Sabatti
doi: https://doi.org/10.1101/031427
C. Peterson
1Department of Health Research and Policy, Stanford University, Stanford, California, USA
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S. Service
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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A. Jasinska
3Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California, USA
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F. Gao
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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I. Zelaya
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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T. Teshiba
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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C. Bearden
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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V. Reus
4Department of Psychiatry, University of California San Francisco, San Francisco, California, USA
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G. Macaya
5Cell and Molecular Biology Research Center, Universidad de Costa Rica, San Pedro de Montes de Oca, San José, Costa Rica
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C. López-Jaramillo
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M. Bogomolov
7Faculty of Industrial Engineering and Management, Technion, Haifa, Israel
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Y. Benjamini
8Department of Statistics and Operations Research, Tel Aviv University, Tel Aviv, Israel
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E. Eskin
9Department of Computer Science and Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA
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G. Coppola
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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N. Freimer
2Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA
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C. Sabatti
10Department of Biomedical Data Science and Department of Statistics, Stanford University, Stanford, California, USA
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ABSTRACT

The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and a wide range of BP-related quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus.

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Posted November 12, 2015.
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Characterization of expression quantitative trait loci in extensively phenotyped pedigrees ascertained for bipolar disorder
C. Peterson, S. Service, A. Jasinska, F. Gao, I. Zelaya, T. Teshiba, C. Bearden, V. Reus, G. Macaya, C. López-Jaramillo, M. Bogomolov, Y. Benjamini, E. Eskin, G. Coppola, N. Freimer, C. Sabatti
bioRxiv 031427; doi: https://doi.org/10.1101/031427
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Characterization of expression quantitative trait loci in extensively phenotyped pedigrees ascertained for bipolar disorder
C. Peterson, S. Service, A. Jasinska, F. Gao, I. Zelaya, T. Teshiba, C. Bearden, V. Reus, G. Macaya, C. López-Jaramillo, M. Bogomolov, Y. Benjamini, E. Eskin, G. Coppola, N. Freimer, C. Sabatti
bioRxiv 031427; doi: https://doi.org/10.1101/031427

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