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Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes
Open accessAbstract
Quantitative differences in gene expression are thought to contribute to phenotypic differences between individuals. We generated genome-wide transcriptional profiles of lymphocyte samples from 1,240 participants in the San Antonio Family Heart Study. The expression levels of 85% of the 19,648 detected autosomal transcripts were significantly heritable. Linkage analysis uncovered >1,000 cis-regulated transcripts at a false discovery rate of 5% and showed that the expression quantitative trait loci with the most significant linkage evidence are often located at the structural locus of a given transcript. To highlight the usefulness of this much-enlarged map of cis-regulated transcripts for the discovery of genes that influence complex traits in humans, as an example we selected high-density lipoprotein cholesterol concentration as a phenotype of clinical importance, and identified the cis-regulated vanin 1 (VNN1) gene as harboring sequence variants that influence high-density lipoprotein cholesterol concentrations.
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Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482
An integrative genomics approach to infer causal associations between gene expression and disease
Schadt, E. E., Lamb, J., Yang, X., Zhu, J., Edwards, S., GuhaThakurta, D., Sieberts, S. K., Monks, S., Reitman, M., Zhang, C., et al. (2005) · Nature Genetics · doi:10.1038/ng1589 · Cited by 1,043
The landscape of genetic complexity across 5,700 gene expression traits in yeast
Brem, R. B., & Kruglyak, L. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408709102 · Cited by 603
Large Upward Bias in Estimation of Locus-Specific Effects from Genomewide Scans
Göring, H. H. H., Terwilliger, J. D., & Blangero, J. (2001) · The American Journal of Human Genetics · doi:10.1086/324471 · Cited by 483
Self-citation
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McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891
An atlas of active enhancers across human cell types and tissues
The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature · doi:10.1038/nature12787 · Cited by 2,550
Common variants near MC4R are associated with fat mass, weight and risk of obesity
The Prostate, L., Loos, R. J. F., KORA, Study, N. H., Initiative, D. G., Study, T. S., The Wellcome Trust Case Control Consortium, FUSION, Lindgren, C. M., Li, S., et al. (2008) · Nature Genetics · doi:10.1038/ng.140 · Cited by 1,325
The role of regulatory variation in complex traits and disease
Albert, F. W., & Kruglyak, L. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3891 · Cited by 1,047
Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A
Sankaran, V. G., Menne, T. F., Xu, J., Akie, T. E., Lettre, G., Van Handel, B., Mikkola, H. K. A., Hirschhorn, J. N., Cantor, A. B., & Orkin, S. H. (2008) · Science · doi:10.1126/science.1165409 · Cited by 919
Mapping complex disease traits with global gene expression
Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2537 · Cited by 849
Ideker, T., & Sharan, R. (2008) · Genome Research · doi:10.1101/gr.071852.107 · Cited by 817
Mapping cis- and trans-regulatory effects across multiple tissues in twins
The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Grundberg, E., Small, K. S., Hedman, Å. K., Nica, A. C., Buil, A., Keildson, S., Bell, J. T., Yang, T.-P., Meduri, E., et al. (2012) · Nature Genetics · doi:10.1038/ng.2394 · Cited by 729
Transcriptome genetics using second generation sequencing in a Caucasian population
Montgomery, S. B., Sammeth, M., Gutierrez-Arcelus, M., Lach, R. P., Ingle, C., Nisbett, J., Guigo, R., & Dermitzakis, E. T. (2010) · Nature · doi:10.1038/nature08903 · Cited by 797
Battle, A., Mostafavi, S., Zhu, X., Potash, J. B., Weissman, M. M., McCormick, C., Haudenschild, C. D., Beckman, K. B., Shi, J., Mei, R., et al. (2014) · Genome Research · doi:10.1101/gr.155192.113 · Cited by 547
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature · doi:10.1038/nature13545 · Cited by 604
Progress and promise of genome-wide association studies for human complex trait genetics
Stranger, B. E., Stahl, E. A., & Raj, T. (2011) · Genetics · doi:10.1534/genetics.110.120907 · Cited by 567
High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation
Veyrieras, J.-B., Kudaravalli, S., Kim, S. Y., Dermitzakis, E. T., Gilad, Y., Stephens, M., & Pritchard, J. K. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000214 · Cited by 536
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
Melzer, D., Perry, J. R. B., Hernandez, D., Corsi, A.-M., Stevens, K., Rafferty, I., Lauretani, F., Murray, A., Gibbs, J. R., Paolisso, G., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000072 · Cited by 480
Plasma lipoproteins: genetic influences and clinical implications
Hegele, R. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2481 · Cited by 462
Comparison of co-expression measures: mutual information, correlation, and model based indices
Song, L., Langfelder, P., & Horvath, S. (2012) · BMC Bioinformatics · doi:10.1186/1471-2105-13-328 · Cited by 460
Genetic Control of Human Brain Transcript Expression in Alzheimer Disease
Webster, J. A., Gibbs, J. R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.011 · Cited by 304
Trans-Omics: How To Reconstruct Biochemical Networks Across Multiple ‘Omic’ Layers
Yugi, K., Kubota, H., Hatano, A., & Kuroda, S. (2016) · Trends in Biotechnology · doi:10.1016/j.tibtech.2015.12.013 · Cited by 258
The study of eQTL variations by RNA-seq: from SNPs to phenotypes
Majewski, J., & Pastinen, T. (2011) · Trends in Genetics · doi:10.1016/j.tig.2010.10.006 · Cited by 232
Tanaka, T., Ngwa, J. S., van Rooij, F. J., Zillikens, M. C., Wojczynski, M. K., Frazier-Wood, A. C., Houston, D. K., Kanoni, S., Lemaitre, R. N., Luan, J., et al. (2013) · The American Journal of Clinical Nutrition · doi:10.3945/ajcn.112.052183 · Cited by 226
Fourati, S., Cristescu, R., Loboda, A., Talla, A., Filali, A., Railkar, R., Schaeffer, A. K., Favre, D., Gagnon, D., Peretz, Y., et al. (2016) · Nature Communications · doi:10.1038/ncomms10369 · Cited by 183
van Meurs, J. B., Pare, G., Schwartz, S. M., Hazra, A., Tanaka, T., Vermeulen, S. H., Cotlarciuc, I., Yuan, X., Mälarstig, A., Bandinelli, S., et al. (2013) · The American Journal of Clinical Nutrition · doi:10.3945/ajcn.112.044545 · Cited by 198
Genetics of schizophrenia: new findings and challenges
Gejman, P. V., Sanders, A. R., & Kendler, K. S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101459 · Cited by 183
Ding, J., Gudjonsson, J. E., Liang, L., Stuart, P. E., Li, Y., Chen, W., Weichenthal, M., Ellinghaus, E., Franke, A., Cookson, W., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.024 · Cited by 180
Geographical genomics of human leukocyte gene expression variation in southern Morocco
Idaghdour, Y., Czika, W., Shianna, K. V., Lee, S. H., Visscher, P. M., Martin, H. C., Miclaus, K., Jadallah, S. J., Goldstein, D. B., Wolfinger, R. D., et al. (2010) · Nature Genetics · doi:10.1038/ng.495 · Cited by 151
Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer
Valle, L., Serena-Acedo, T., Liyanarachchi, S., Hampel, H., Comeras, I., Li, Z., Zeng, Q., Zhang, H.-T., Pennison, M. J., Sadim, M., et al. (2008) · Science · doi:10.1126/science.1159397 · Cited by 141
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression
Lalonde, E., Ha, K. C. H., Wang, Z., Bemmo, A., Kleinman, C. L., Kwan, T., Pastinen, T., & Majewski, J. (2011) · Genome Research · doi:10.1101/gr.111211.110 · Cited by 111
Plagnol, V., Smyth, D. J., Todd, J. A., & Clayton, D. G. (2009) · Biostatistics · doi:10.1093/biostatistics/kxn039 · Cited by 113
Systems genetics analysis of gene-by-environment interactions in human cells
Romanoski, C. E., Lee, S., Kim, M. J., Ingram-Drake, L., Plaisier, C. L., Yordanova, R., Tilford, C., Guan, B., He, A., Gargalovic, P. S., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.02.002 · Cited by 111
Identification of genetic variants influencing the human plasma proteome
Johansson, Å., Enroth, S., Palmblad, M., Deelder, A. M., Bergquist, J., & Gyllensten, U. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217238110 · Cited by 82
Ganesh, S. K., Chasman, D. I., Larson, M. G., Guo, X., Verwoert, G., Bis, J. C., Gu, X., Smith, A. V., Yang, M.-L., Zhang, Y., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.06.002 · Cited by 71
Whole-genome association mapping of gene expression in the human prefrontal cortex
Liu, C., Cheng, L., Badner, J. A., Zhang, D., Craig, D. W., Redman, M., & Gershon, E. S. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.128 · Cited by 63
Genetic Variation at the FTO Locus Influences RBL2 Gene Expression
Jowett, J. B. M., Curran, J. E., Johnson, M. P., Carless, M. A., Göring, H. H. H., Dyer, T. D., Cole, S. A., Comuzzie, A. G., MacCluer, J. W., Moses, E. K., et al. (2010) · Diabetes · doi:10.2337/db09-1277 · Cited by 61
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Metadata
- Authors
- Göring, H. H. H., Curran, J. E., Johnson, M. P., Dyer, T. D., Charlesworth, J., Cole, S. A., Jowett, J. B. M., Abraham, L. J., Rainwater, D. L., Comuzzie, A. G., Mahaney, M. C., Almasy, L., MacCluer, J. W., Kissebah, A. H., Collier, G. R., Moses, E. K., & Blangero, J.
- Venue
- Nature Genetics
- Published
- 2007-09-16
- Volume
- 39
- Issue
- 10
- Pages
- 1208-1216
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2145090915
- Cited by
- 504
- References
- 4
- FWCI
- 32.32
- Type
- journal article
- Language
- en
- Open access
- green
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