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Sökning: id:"swepub:oai:prod.swepub.kib.ki.se:133977211" > Integrative functio...

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FältnamnIndikatorerMetadata
00005669naa a2200565 4500
001oai:prod.swepub.kib.ki.se:133977211
003SwePub
008240701s2016 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-307963
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1339772112 URI
0247 a https://doi.org/10.1038/ncomms120922 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3079632 URI
040 a (SwePub)kid (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Miller, CLu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
2451 0a Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci
264 c 2016-07-08
264 1b Springer Science and Business Media LLC,c 2016
520 a Coronary artery disease (CAD) is the leading cause of mortality and morbidity, driven by both genetic and environmental risk factors. Meta-analyses of genome-wide association studies have identified >150 loci associated with CAD and myocardial infarction susceptibility in humans. A majority of these variants reside in non-coding regions and are co-inherited with hundreds of candidate regulatory variants, presenting a challenge to elucidate their functions. Herein, we use integrative genomic, epigenomic and transcriptomic profiling of perturbed human coronary artery smooth muscle cells and tissues to begin to identify causal regulatory variation and mechanisms responsible for CAD associations. Using these genome-wide maps, we prioritize 64 candidate variants and perform allele-specific binding and expression analyses at seven top candidate loci: 9p21.3, SMAD3, PDGFD, IL6R, BMP1, CCDC97/TGFB1 and LMOD1. We validate our findings in expression quantitative trait loci cohorts, which together reveal new links between CAD associations and regulatory function in the appropriate disease context.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 hsv//eng
7001 a Pjanic, Mu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Wang, Tu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Nguyen, Tu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Cohain, Au Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.4 aut
7001 a Lee, JDu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.;Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA.4 aut
7001 a Perisic, Lu Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, SE-17177 Stockholm, Sweden.4 aut
7001 a Hedin, Uu Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, SE-17177 Stockholm, Sweden.4 aut
7001 a Kundu, RKu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Majmudar, Du Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Kim, JBu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Wang, Ou Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Betsholtz, Christeru Uppsala universitet,Karolinska Institutet,Vaskulärbiologi,Karolinska Inst, Vasc Biol Unit, Dept Med Biochem & Biophys, SE-17177 Stockholm, Sweden.4 aut0 (Swepub:uu)chbet517
7001 a Ruusalepp, Au Tartu Univ Hosp, Dept Cardiac Surg, EE-50406 Tartu, Estonia.;Clin Gene Networks AB, SE-11444 Stockholm, Sweden.4 aut
7001 a Franzen, Ou Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.;Clin Gene Networks AB, SE-11444 Stockholm, Sweden.4 aut
7001 a Assimes, TLu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7001 a Montgomery, SBu Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA.;Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA.4 aut
7001 a Schadt, EEu Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.4 aut
7001 a Bjorkegren, JLMu Karolinska Institutet,Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.;Karolinska Inst, Vasc Biol Unit, Dept Med Biochem & Biophys, SE-17177 Stockholm, Sweden.;Univ Tartu, Inst Biomed & Translat Med, Dept Physiol, EE-50406 Tartu, Estonia.4 aut
7001 a Quertermous, Tu Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.4 aut
7102 a Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, CA 94305 USA.b Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.4 org
7730 t Nature communicationsd : Springer Science and Business Media LLCg 7, s. 12092-q 7<12092-x 2041-1723
8564 u https://www.nature.com/articles/ncomms12092.pdf
8564 u https://uu.diva-portal.org/smash/get/diva2:1049143/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:133977211
8564 8u https://doi.org/10.1038/ncomms12092
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-307963

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