Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

H.H.H. Goring; J.E. Curran; M.P. Johnson; T.D. Dyer; J. Charlesworth; S.A. Cole; J.B.M. Jowett; Lawrence Abraham; D.L. Rainwater; A.G. Comuzzie; M.C. Mahaney; L. Almasy; J.W. Maccluer; A.H. Kissebah; G.R. Collier; E.K. Moses; J. Blangero

doi:10.1038/ng2119

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

H.H.H. Goring, J.E. Curran, M.P. Johnson, T.D. Dyer, J. Charlesworth, S.A. Cole, J.B.M. Jowett, Lawrence Abraham, D.L. Rainwater, A.G. Comuzzie, M.C. Mahaney, L. Almasy, J.W. Maccluer, A.H. Kissebah, G.R. Collier, E.K. Moses, J. Blangero

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Abstract

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.

Original language	English
Pages (from-to)	1208-1216
Journal	Nature Genetics
Volume	39
Issue number	10
DOIs	https://doi.org/10.1038/ng2119
Publication status	Published - 2007

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Goring, H. H. H., Curran, J. E., Johnson, M. P., Dyer, T. D., Charlesworth, J., Cole, S. A., Jowett, J. B. M., Abraham, L., 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. (2007). Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nature Genetics, 39(10), 1208-1216. https://doi.org/10.1038/ng2119

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title = "Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes",

abstract = "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.",

author = "H.H.H. Goring and J.E. Curran and M.P. Johnson and T.D. Dyer and J. Charlesworth and S.A. Cole and J.B.M. Jowett and Lawrence Abraham and D.L. Rainwater and A.G. Comuzzie and M.C. Mahaney and L. Almasy and J.W. Maccluer and A.H. Kissebah and G.R. Collier and E.K. Moses and J. Blangero",

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Goring, HHH, Curran, JE, Johnson, MP, Dyer, TD, Charlesworth, J, Cole, SA, Jowett, JBM, Abraham, L, Rainwater, DL, Comuzzie, AG, Mahaney, MC, Almasy, L, Maccluer, JW, Kissebah, AH, Collier, GR, Moses, EK & Blangero, J 2007, 'Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes', Nature Genetics, vol. 39, no. 10, pp. 1208-1216. https://doi.org/10.1038/ng2119

TY - JOUR

T1 - Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

AU - Goring, H.H.H.

AU - Curran, J.E.

AU - Johnson, M.P.

AU - Dyer, T.D.

AU - Charlesworth, J.

AU - Cole, S.A.

AU - Jowett, J.B.M.

AU - Abraham, Lawrence

AU - Rainwater, D.L.

AU - Comuzzie, A.G.

AU - Mahaney, M.C.

AU - Almasy, L.

AU - Maccluer, J.W.

AU - Kissebah, A.H.

AU - Collier, G.R.

AU - Moses, E.K.

AU - Blangero, J.

PY - 2007

Y1 - 2007

N2 - 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.

AB - 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.

U2 - 10.1038/ng2119

DO - 10.1038/ng2119

M3 - Article

SN - 1061-4036

VL - 39

SP - 1208

EP - 1216

JO - Nature Genetics

JF - Nature Genetics

IS - 10

ER -

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

Abstract

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