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FältnamnIndikatorerMetadata
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024a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4748762 URI
024a https://doi.org/10.1161/CIRCULATIONAHA.121.0578882 DOI
024a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3128122 URI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:1494053552 URI
024a https://lup.lub.lu.se/record/d3eadae5-454a-4246-af7d-6a3200ad2bf22 URI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:1493490722 URI
040 a (SwePub)uud (SwePub)kthd (SwePub)kid (SwePub)lud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Yang, Zhijianu Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.;Fudan Univ, Greater Bay Area Inst Precis Med Guangzhou, Ctr Intelligent Med Res, 2nd Nanjiang Rd, Guangzhou 511458, Peoples R China.,Fudan University,Sun Yat-sen University4 aut
2451 0a Genetic Landscape of the ACE2 Coronavirus Receptor
264 1b Ovid Technologies (Wolters Kluwer Health),c 2022
338 a electronic2 rdacarrier
500 a QC 20220524
520 a Background: SARS-CoV-2, the causal agent of COVID-19, enters human cells using the ACE2 (angiotensin-converting enzyme 2) protein as a receptor. ACE2 is thus key to the infection and treatment of the coronavirus. ACE2 is highly expressed in the heart and respiratory and gastrointestinal tracts, playing important regulatory roles in the cardiovascular and other biological systems. However, the genetic basis of the ACE2 protein levels is not well understood.Methods: We have conducted the largest genome-wide association meta-analysis of plasma ACE2 levels in >28 000 individuals of the SCALLOP Consortium (Systematic and Combined Analysis of Olink Proteins). We summarize the cross-sectional epidemiological correlates of circulating ACE2. Using the summary statistics-based high-definition likelihood method, we estimate relevant genetic correlations with cardiometabolic phenotypes, COVID-19, and other human complex traits and diseases. We perform causal inference of soluble ACE2 on vascular disease outcomes and COVID-19 severity using mendelian randomization. We also perform in silico functional analysis by integrating with other types of omics data.Results: We identified 10 loci, including 8 novel, capturing 30% of the heritability of the protein. We detected that plasma ACE2 was genetically correlated with vascular diseases, severe COVID-19, and a wide range of human complex diseases and medications. An X-chromosome cis-protein quantitative trait loci-based mendelian randomization analysis suggested a causal effect of elevated ACE2 levels on COVID-19 severity (odds ratio, 1.63 [95% CI, 1.10-2.42]; P=0.01), hospitalization (odds ratio, 1.52 [95% CI, 1.05-2.21]; P=0.03), and infection (odds ratio, 1.60 [95% CI, 1.08-2.37]; P=0.02). Tissue- and cell type-specific transcriptomic and epigenomic analysis revealed that the ACE2 regulatory variants were enriched for DNA methylation sites in blood immune cells.Conclusions: Human plasma ACE2 shares a genetic basis with cardiovascular disease, COVID-19, and other related diseases. The genetic architecture of the ACE2 protein is mapped, providing a useful resource for further biological and clinical studies on this coronavirus receptor.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
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
650 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
653 a angiotensin-converting enzyme 2
653 a Genome-Wide Association Study
653 a cardiovascular diseases
653 a COVID-19
653 a SARS-CoV-2
653 a angiotensin-converting enzyme 2
653 a cardiovascular diseases
653 a COVID-19
653 a Genome-Wide Association Study
653 a SARS-CoV-2
653 a angiotensin converting enzyme 2
653 a dipeptidyl carboxypeptidase
653 a Article
653 a cardiometabolic risk
653 a cardiovascular disease
653 a chromosome analysis
653 a computer model
653 a coronavirus disease 2019
653 a data extraction
653 a disorder of sex development
653 a gene amplification
653 a gene expression
653 a gene frequency
653 a genetic analysis
653 a genetic correlation
653 a genetic profile
653 a genetic variability
653 a genome-wide association study
653 a genotype
653 a heritability
653 a human
653 a human cell
653 a information processing
653 a information retrieval
653 a omics
653 a outcome assessment
653 a protein expression
653 a quantitative trait locus
653 a real time polymerase chain reaction
653 a Severe acute respiratory syndrome coronavirus 2
653 a single nucleotide polymorphism
653 a cross-sectional study
653 a genetics
653 a meta analysis
653 a metabolism
653 a Angiotensin-Converting Enzyme 2
653 a Cross-Sectional Studies
653 a Humans
653 a Peptidyl-Dipeptidase A
653 a Receptors, Coronavirus
700a Macdonald-Dunlop, Erinu Univ Edinburgh, Usher Inst, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland.4 aut
700a Chen, Jiantaou Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.;Fudan Univ, Greater Bay Area Inst Precis Med Guangzhou, Ctr Intelligent Med Res, 2nd Nanjiang Rd, Guangzhou 511458, Peoples R China.4 aut
700a Zhai, Ranranu Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.;Fudan Univ, Greater Bay Area Inst Precis Med Guangzhou, Ctr Intelligent Med Res, 2nd Nanjiang Rd, Guangzhou 511458, Peoples R China.4 aut
700a Li, Tingu Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.;Fudan Univ, Greater Bay Area Inst Precis Med Guangzhou, Ctr Intelligent Med Res, 2nd Nanjiang Rd, Guangzhou 511458, Peoples R China.4 aut
700a Richmond, Anneu Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Klaric, Lucijau Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Pirastu, Nicolau Univ Edinburgh, Usher Inst, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland.;Human Technopole Viale Rita Levi Montalcini, Milan, Italy.4 aut
700a Ning, Zhengu Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.;Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut
700a Zheng, Chenqingu Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.4 aut
700a Wang, Yipengu Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.4 aut
700a Huang, Tingtingu Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut
700a He, Yazhouu Univ Edinburgh, Usher Inst, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland.;Sichuan Univ, West China Fourth Hosp, West China Sch Publ Hlth, Chengdu, Peoples R China.4 aut
700a Guo, Huimingu Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Guangdong Cardiovasc Inst, Dept Cardiac Surg, Guangzhou, Peoples R China.4 aut
700a Ying, Kejunu Brigham & Womens Hosp, Dept Med, Div Genet, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA 02115 USA.;Harvard Univ, TH Chan Sch Publ Hlth, Boston, MA 02115 USA.4 aut
700a Gustafsson, Stefanu Uppsala universitet,Klinisk epidemiologi4 aut0 (Swepub:uu)stegu732
700a Prins, Bramu Univ Cambridge, Dept Publ Hlth & Primary Care, British Heart Fdn, Cardiovasc Epidemiol Unit, Cambridge, England.;Wellcome Genome Campus, Hlth Data Res UK Cambridge, Cambridge, England.;Univ Cambridge, Cambridge, England.4 aut
700a Ramisch, Annau Univ Geneva, Sch Med, Dept Genet Med & Dev, Geneva, Switzerland.4 aut
700a Dermitzakis, Emmanouil T.u Univ Geneva, Sch Med, Dept Genet Med & Dev, Geneva, Switzerland.4 aut
700a Png, Graceu German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Translat Genom, Neuherberg, Germany.;Tech Univ Munich TUM, Sch Med, Munich, Germany.4 aut
700a Eriksson, Niclas,d 1978-u Uppsala universitet,Uppsala kliniska forskningscentrum (UCR)4 aut0 (Swepub:uu)nieri103
700a Haessler, Jeffreyu Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA.4 aut
700a Hu, Xiaoweiu Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA.4 aut
700a Zanetti, Danielau Stanford Univ, Dept Med, Sch Med, Div Cardiovasc Med, Stanford, CA 94305 USA.;Stanford Univ, Stanford Cardiovasc Inst, Stanford, CA 94305 USA.4 aut
700a Boutin, Thibaudu Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Hwang, Shih-Jenu Framingham Heart Dis Epidemiol Study, Framingham, MA USA.;NHLBI, Populat Sci Branch, Div Intramural Res, NIH, Bldg 10, Bethesda, MD 20892 USA.4 aut
700a Wheeler, Eleanoru Univ Cambridge, MRC Epidemiol Unit, Cambridge, England.4 aut
700a Pietzner, Maiku Univ Cambridge, MRC Epidemiol Unit, Cambridge, England.;Charite, Berlin Inst Hlth, Computat Med, Berlin, Germany.4 aut
700a Raffield, Laura M.u Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA.4 aut
700a Kalnapenkis, Anetteu Univ Tartu, Inst Genom, Estonian Genome Ctr, Tartu, Estonia.;Univ Tartu, Inst Mol & Cell Biol, Tartu, Estonia.4 aut
700a Peters, James E.u Imperial Coll London, Dept Immunol & Inflammat, London, England.;Univ Cambridge, Dept Publ Hlth & Primary Care, British Heart Fdn, Cardiovasc Epidemiol Unit, Cambridge, England.;Wellcome Genome Campus, Hlth Data Res UK Cambridge, Cambridge, England.;Univ Cambridge, Cambridge, England.4 aut
700a Vinuela, Anau Univ Geneva, Sch Med, Dept Genet Med & Dev, Geneva, Switzerland.;Newcastle Univ, Fac Med Sci, Biosci Inst, Newcastle Upon Tyne, Tyne & Wear, England.4 aut
700a Gilly, Arthuru German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Translat Genom, Neuherberg, Germany.;Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge, England.4 aut
700a Elmståhl, S.u Lund University,Lunds universitet,Geriatrik,Forskargrupper vid Lunds universitet,Geriatrics,Lund University Research Groups4 aut0 (Swepub:lu)smi-sel
700a Dedoussis, Georgeu Harokopio Univ Athens, Sch Hlth Sci & Educ, Dept Nutr & Dietet, Athens, Greece.4 aut
700a Petrie, John R.u Univ Glasgow, Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland.4 aut
700a Polasek, Ozrenu Univ Split, Sch Med, Split, Croatia.;Algebra Univ Coll, Zagreb, Croatia.4 aut
700a Folkersen, Lasseu Danish Natl Genome Ctr, Copenhagen, Denmark.4 aut
700a Chen, Yanu Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.,Framingham Heart Dis Epidemiol Study, Framingham, MA USA.;NHLBI, Populat Sci Branch, Div Intramural Res, NIH, Bldg 10, Bethesda, MD 20892 USA.4 aut
700a Yao, Chenu Framingham Heart Dis Epidemiol Study, Framingham, MA USA.;NHLBI, Populat Sci Branch, Div Intramural Res, NIH, Bldg 10, Bethesda, MD 20892 USA.4 aut
700a Vosa, Urmou Univ Tartu, Inst Genom, Estonian Genome Ctr, Tartu, Estonia.4 aut
700a Pairo-Castineira, Erolau Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Roslin Inst, Edinburgh, Midlothian, Scotland.4 aut
700a Clohisey, Sarau Univ Edinburgh, Roslin Inst, Edinburgh, Midlothian, Scotland.4 aut
700a Bretherick, Andrew D.u Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Rawlik, Konradu Univ Edinburgh, Roslin Inst, Edinburgh, Midlothian, Scotland.4 aut
700a Esko, Tonuu Univ Tartu, Inst Genom, Estonian Genome Ctr, Tartu, Estonia.4 aut
700a Enroth, Stefan,d 1976-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)stenr451
700a Johansson, Åsau Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)asjoh108
700a Gyllensten, Ulf B.u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)ulfgyll
700a Langenberg, Claudiau Univ Cambridge, MRC Epidemiol Unit, Cambridge, England.;Charite, Berlin Inst Hlth, Computat Med, Berlin, Germany.4 aut
700a Levy, Danielu Framingham Heart Dis Epidemiol Study, Framingham, MA USA.;NHLBI, Populat Sci Branch, Div Intramural Res, NIH, Bldg 10, Bethesda, MD 20892 USA.4 aut
700a Hayward, Carolineu Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Lind, Larsu Uppsala universitet,Klinisk epidemiologi4 aut0 (Swepub:uu)larslind
700a Kooperberg, Charlesu Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA.4 aut
700a Manichaikul, Ani W.u Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA.4 aut
700a Siegbahn, Agneta,d 1947-u Uppsala universitet,Koagulation och inflammationsvetenskap4 aut0 (Swepub:uu)agsie424
700a Wallentin, Lars,d 1943-u Uppsala universitet,Kardiologi4 aut0 (Swepub:uu)larswall
700a Lind, Larsu Uppsala universitet,Klinisk epidemiologi4 aut0 (Swepub:uu)larslind
700a Zeggini, Eleftheriau German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Translat Genom, Neuherberg, Germany.;Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge, England.;Tech Univ Munich TUM, Munich, Germany.;Klinikum Rechts Der Isar, TUM Sch Med, Munich, Germany.4 aut
700a Schwenk, Jochen M.u KTH,Science for Life Laboratory, SciLifeLab,Affinitets-proteomik,Affin Prote, Sci Life Lab, Solna, Sweden.,KTH Royal Inst Technol, Affin Prote, Sci Life Lab, Solna, Sweden.4 aut0 (Swepub:kth)u1h7wtme
700a Butterworth, Adam S.u Univ Cambridge, Dept Publ Hlth & Primary Care, British Heart Fdn, Cardiovasc Epidemiol Unit, Cambridge, England.;Wellcome Genome Campus, Hlth Data Res UK Cambridge, Cambridge, England.;Univ Cambridge, Cambridge, England.;Univ Cambridge, British Heart Fdn, Ctr Res Excellence, Cambridge, England.;Univ Cambridge, Natl Inst Hlth Res, Blood & Transplant Res Unit Donor Hlth & Genom, Cambridge, England.4 aut
700a Michaëlsson, Karl,d 1959-u Uppsala universitet,Medicinsk epidemiologi4 aut0 (Swepub:uu)karlmich
700a Pawitan, Yudiu Karolinska Institutet4 aut
700a Joshi, Peter K.u Univ Edinburgh, Usher Inst, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland.4 aut
700a Baillie, J. Kennethu Univ Edinburgh, Roslin Inst, Edinburgh, Midlothian, Scotland.;Royal Infirm Edinburgh NHS Trust, Intens Care Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Malarstig, Andersu Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.;Pfizer Worldwide Res Dev & Med, Stockholm, Sweden.4 aut
700a Reiner, Alexander P.u Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA.4 aut
700a Wilson, James F.u Univ Edinburgh, Usher Inst, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Inst Genet & Canc, Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.4 aut
700a Shen, Xiau Karolinska Institutet,Fudan University,Sun Yat-sen University,University of Edinburgh4 aut
710a Sun Yat Sen Univ, Sch Life Sci, Biostat Grp, Guangzhou, Peoples R China.;Fudan Univ, Greater Bay Area Inst Precis Med Guangzhou, Ctr Intelligent Med Res, 2nd Nanjiang Rd, Guangzhou 511458, Peoples R China.b Fudan University4 org
710a et al.
773t Circulationd : Ovid Technologies (Wolters Kluwer Health)g 30:SUPPL 1, s. 36-36q 145:18<1398-1411x 0009-7322x 1524-4539
773t EUROPEAN JOURNAL OF HUMAN GENETICSd : Ovid Technologies (Wolters Kluwer Health)g 30:SUPPL 1, s. 36-36q 30:SUPPL 1<36-36x 1018-4813
856u https://doi.org/10.1161/CIRCULATIONAHA.121.057888y Fulltext
856u https://uu.diva-portal.org/smash/get/diva2:1662366/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856u http://dx.doi.org/10.1161/CIRCULATIONAHA.121.057888x freey FULLTEXT
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-474876
8564 8u https://doi.org/10.1161/CIRCULATIONAHA.121.057888
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-312812
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:149405355
8564 8u https://lup.lub.lu.se/record/d3eadae5-454a-4246-af7d-6a3200ad2bf2
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:149349072

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Richmond, Anne
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Pirastu, Nicola
Ning, Zheng
Zheng, Chenqing
Wang, Yipeng
Huang, Tingting
He, Yazhou
Guo, Huiming
Ying, Kejun
Gustafsson, Stef ...
Prins, Bram
Ramisch, Anna
Dermitzakis, Emm ...
Png, Grace
Eriksson, Niclas ...
Haessler, Jeffre ...
Hu, Xiaowei
Zanetti, Daniela
Boutin, Thibaud
Hwang, Shih-Jen
Wheeler, Eleanor
Pietzner, Maik
Raffield, Laura ...
Kalnapenkis, Ane ...
Peters, James E.
Vinuela, Ana
Gilly, Arthur
Elmståhl, S.
Dedoussis, Georg ...
Petrie, John R.
Polasek, Ozren
Folkersen, Lasse
Chen, Yan
Yao, Chen
Vosa, Urmo
Pairo-Castineira ...
Clohisey, Sara
Bretherick, Andr ...
Rawlik, Konrad
Esko, Tonu
Enroth, Stefan, ...
Johansson, Åsa
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Levy, Daniel
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Lind, Lars
Kooperberg, Char ...
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Siegbahn, Agneta ...
Wallentin, Lars, ...
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Butterworth, Ada ...
Michaëlsson, Kar ...
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