Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes
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 detec...
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| Veröffentlicht in: | Nature genetics 2007-10, Vol.39 (10), p.1208-1216 |
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| creator | Göring, Harald H H Curran, Joanne E Johnson, Matthew P Dyer, Thomas D Charlesworth, Jac Cole, Shelley A Jowett, Jeremy B M Abraham, Lawrence J Rainwater, David L Comuzzie, Anthony G Mahaney, Michael C Almasy, Laura MacCluer, Jean W Kissebah, Ahmed H Collier, Gregory R Moses, Eric K Blangero, John |
| description | 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. |
| doi_str_mv | 10.1038/ng2119 |
| format | Article |
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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.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng2119</identifier><identifier>PMID: 17873875</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Amidohydrolases - genetics ; Animal Genetics and Genomics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Cardiovascular Diseases - blood ; Cardiovascular Diseases - genetics ; Cell Adhesion Molecules - genetics ; Cholesterol ; Cholesterol, HDL - genetics ; Cholesterol, HDL - metabolism ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene Expression Profiling ; Gene Function ; Gene mapping ; Genetic aspects ; Genetic Linkage ; Genetic Markers ; Genetic transcription ; Genetics of eukaryotes. Biological and molecular evolution ; Genomics ; Genotype ; Genotype & phenotype ; GPI-Linked Proteins ; Human Genetics ; Humans ; Identification and classification ; Lymphocytes ; Lymphocytes - metabolism ; Mexican Americans - genetics ; Molecular and cellular biology ; Molecular genetics ; Phenotype ; Physiological aspects ; Promoter Regions, Genetic ; Quantitative Trait Loci ; Transcription, Genetic ; Transcription. Transcription factor. Splicing. Rna processing</subject><ispartof>Nature genetics, 2007-10, Vol.39 (10), p.1208-1216</ispartof><rights>Springer Nature America, Inc. 2007</rights><rights>2007 INIST-CNRS</rights><rights>COPYRIGHT 2007 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Oct 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c630t-b56aec190d2d53841b6357a361583f71dd5166e74f98e79c6d48ace862db177d3</citedby><cites>FETCH-LOGICAL-c630t-b56aec190d2d53841b6357a361583f71dd5166e74f98e79c6d48ace862db177d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng2119$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng2119$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19142681$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17873875$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Göring, Harald H H</creatorcontrib><creatorcontrib>Curran, Joanne E</creatorcontrib><creatorcontrib>Johnson, Matthew P</creatorcontrib><creatorcontrib>Dyer, Thomas D</creatorcontrib><creatorcontrib>Charlesworth, Jac</creatorcontrib><creatorcontrib>Cole, Shelley A</creatorcontrib><creatorcontrib>Jowett, Jeremy B M</creatorcontrib><creatorcontrib>Abraham, Lawrence J</creatorcontrib><creatorcontrib>Rainwater, David L</creatorcontrib><creatorcontrib>Comuzzie, Anthony G</creatorcontrib><creatorcontrib>Mahaney, Michael C</creatorcontrib><creatorcontrib>Almasy, Laura</creatorcontrib><creatorcontrib>MacCluer, Jean W</creatorcontrib><creatorcontrib>Kissebah, Ahmed H</creatorcontrib><creatorcontrib>Collier, Gregory R</creatorcontrib><creatorcontrib>Moses, Eric K</creatorcontrib><creatorcontrib>Blangero, John</creatorcontrib><title>Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>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.</description><subject>Agriculture</subject><subject>Amidohydrolases - genetics</subject><subject>Animal Genetics and Genomics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Cardiovascular Diseases - blood</subject><subject>Cardiovascular Diseases - genetics</subject><subject>Cell Adhesion Molecules - genetics</subject><subject>Cholesterol</subject><subject>Cholesterol, HDL - genetics</subject><subject>Cholesterol, HDL - metabolism</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene expression</subject><subject>Gene Expression Profiling</subject><subject>Gene Function</subject><subject>Gene mapping</subject><subject>Genetic aspects</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Genetic transcription</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>GPI-Linked Proteins</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Lymphocytes</subject><subject>Lymphocytes - metabolism</subject><subject>Mexican Americans - genetics</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Phenotype</subject><subject>Physiological aspects</subject><subject>Promoter Regions, Genetic</subject><subject>Quantitative Trait Loci</subject><subject>Transcription, Genetic</subject><subject>Transcription. Transcription factor. Splicing. 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Psychology</topic><topic>Gene expression</topic><topic>Gene Expression Profiling</topic><topic>Gene Function</topic><topic>Gene mapping</topic><topic>Genetic aspects</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Genetic transcription</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomics</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>GPI-Linked Proteins</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Identification and classification</topic><topic>Lymphocytes</topic><topic>Lymphocytes - metabolism</topic><topic>Mexican Americans - genetics</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Phenotype</topic><topic>Physiological aspects</topic><topic>Promoter Regions, Genetic</topic><topic>Quantitative Trait Loci</topic><topic>Transcription, Genetic</topic><topic>Transcription. Transcription factor. Splicing. 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Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Göring, Harald H H</au><au>Curran, Joanne E</au><au>Johnson, Matthew P</au><au>Dyer, Thomas D</au><au>Charlesworth, Jac</au><au>Cole, Shelley A</au><au>Jowett, Jeremy B M</au><au>Abraham, Lawrence J</au><au>Rainwater, David L</au><au>Comuzzie, Anthony G</au><au>Mahaney, Michael C</au><au>Almasy, Laura</au><au>MacCluer, Jean W</au><au>Kissebah, Ahmed H</au><au>Collier, Gregory R</au><au>Moses, Eric K</au><au>Blangero, John</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2007-10-01</date><risdate>2007</risdate><volume>39</volume><issue>10</issue><spage>1208</spage><epage>1216</epage><pages>1208-1216</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><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.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>17873875</pmid><doi>10.1038/ng2119</doi><tpages>9</tpages></addata></record> |
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| ispartof | Nature genetics, 2007-10, Vol.39 (10), p.1208-1216 |
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| language | eng |
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| source | MEDLINE; Nature Journals Online; SpringerLink Journals - AutoHoldings |
| subjects | Agriculture Amidohydrolases - genetics Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Cardiovascular Diseases - blood Cardiovascular Diseases - genetics Cell Adhesion Molecules - genetics Cholesterol Cholesterol, HDL - genetics Cholesterol, HDL - metabolism Fundamental and applied biological sciences. Psychology Gene expression Gene Expression Profiling Gene Function Gene mapping Genetic aspects Genetic Linkage Genetic Markers Genetic transcription Genetics of eukaryotes. Biological and molecular evolution Genomics Genotype Genotype & phenotype GPI-Linked Proteins Human Genetics Humans Identification and classification Lymphocytes Lymphocytes - metabolism Mexican Americans - genetics Molecular and cellular biology Molecular genetics Phenotype Physiological aspects Promoter Regions, Genetic Quantitative Trait Loci Transcription, Genetic Transcription. Transcription factor. Splicing. Rna processing |
| title | Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes |
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