New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals
| العنوان: | New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals |
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| المؤلفون: | Anne-Claire Vergnaud, Tibor V. Varga, Melissa A. Richard, Jaakko Tuomilehto, Louise V. Wain, Leif Groop, Reedik Mägi, Danish Saleheen, Olle Melander, Marcus Dörr, He Zhang, Alena Stančáková, Michael Boehnke, Claudia Langenberg, Paul Elliott, Adam S. Butterworth, Andrianos M. Yiorkas, Yingchang Lu, Tea Skaaby, George Dedoussis, Xiuqing Guo, Robin Young, Cristiano Fava, Timo A. Lakka, Igor Rudan, Riccardo E. Marioni, Helen R. Warren, Ioanna Tzoulaki, Myriam Fornage, Bruce M. Psaty, Tõnu Esko, Najaf Amin, Vilmundur Gudnason, Ozren Polasek, Yongmei Liu, Panos Deloukas, Paul M. Ridker, Vinicius Tragante, John M. C. Connell, Mark J. Caulfield, Jette Bork-Jensen, Giovanni Malerba, Eric Boerwinkle, Alanna C. Morrison, Todd L. Edwards, Teresa Ferreira, Torben Hansen, Aldi T. Kraja, He Gao, Alaitz Poveda, Praveen Surendran, Christopher Newton-Cheh, Christian Theil Have, Cramer Christensen, Daniel I. Chasman, Paul W. Franks, Ian J. Deary, Xueling Sim, Evangelos Evangelou, Roby Joehanes, Daniel R. Witte, Cristina Menni, Niels Grarup, Weihua Zhang, Eleftheria Zeggini, Anubha Mahajan, Nora Franceschini, Fredrik Karpe, Lars Lind, Rainer Rauramaa, Oluf Pedersen, Pim van der Harst, Jeanette M. Stafford, Alisa K. Manning, Lori L. Bonnycastle, Rudolf A. de Boer, Kenneth Rice, Nicholas J. Wareham, Tiinamaija Tuomi, Charles Kooperberg, Alexandra I. F. Blakemore, Kathleen Stirrups, Marjo-Riitta Järvelin, Michael A. Province, Marit E. Jørgensen, Allan Linneberg, Veikko Salomaa, Albert V. Smith, Cornelia M. van Duijn, Hao Mei, Mark I. McCarthy, Nilesh J. Samani, Anna F. Dominiczak, Joanna M. M. Howson, Erik Ingelsson, Colin N. A. Palmer, Markku Laakso, Karen L. Mohlke, Folkert W. Asselbergs, Sarah E. Harris, Ayush Giri, Daniel Levy, Anne Mari Käräjämäki, Michael R. Barnes, Aliki-Eleni Farmaki, Muhammad Riaz, Lorraine Southam, Karl-Heinz Herzig, Caroline Hayward, Nigel W. Rayner, John Danesh, Ruth J. F. Loos, Jennifer A. Smith, Ivan Brandslund, Neil Poulter, Jerome I. Rotter, Peter S. Sever, Chunyu Liu, John M. Starr, Stefan Weiss, Georg Ehret, Cecilia M. Lindgren, Walter Palmas, Fotios Drenos, Jaspal S. Kooner, Göran Hallmans, Megan L. Grove, Patricia B. Munroe, Andrew P. Morris, Aki S. Havulinna, James P. Cook, John C. Chambers, Cristen J. Willer, Claudia P. Cabrera, Sharon L.R. Kardia, Peter van der Meer, James G. Wilson, Louis Little, Sandosh Padmanabhan, Oksa Heikki, Franco Giulianini, Giovanni Gambaro |
| المساهمون: | Cardiovascular Centre (CVC), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Ehret, Georg Benedikt, Medical Research Council (MRC), Wellcome Trust, National Institute for Health Research, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Epidemiology, Medical Informatics, Medical Oncology, Internal Medicine, Gastroenterology & Hepatology |
| المصدر: | Circulation-Cardiovascular Genetics, 10(5):001778. LIPPINCOTT WILLIAMS & WILKINS Circulation: Cardiovascular Genetics, Vol. 10, No 5 (2017) P. e001778 Kraja, A T, Cook, J P, Warren, H R, Surendran, P, Liu, C, Evangelou, E, Manning, A K, Grarup, N, Drenos, F, Sim, X, Smith, A V, Amin, N, Blakemore, A I F, Bork-Jensen, J, Brandslund, I, Farmaki, A-E, Fava, C, Ferreira, T, Herzig, K-H, Giri, A, Giulianini, F, Grove, M L, Guo, X, Harris, S E, Have, C T, Havulinna, A S, Zhang, H, Jørgensen, M E, Käräjämäki, A, Kooperberg, C, Linneberg, A, Little, L, Liu, Y, Bonnycastle, L L, Lu, Y, Mägi, R, Mahajan, A, Malerba, G, Marioni, R E, Mei, H, Menni, C, Morrison, A C, Padmanabhan, S, Palmas, W, Poveda, A, Rauramaa, R, Rayner, N W, Riaz, M, Christensen, C K, Hansen, T & Understanding Society Scientific Group 2017, ' New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals ', Circulation: Cardiovascular Genetics, vol. 10, no. 5, e001778 . https://doi.org/10.1161/CIRCGENETICS.117.001778 Circulation-cardiovascular genetics, 10(5):UNSP e001778. Lippincott Williams & Wilkins Circulation-Cardiovascular genetics, 10(5). Lippincott Williams and Wilkins CIRCULATION-CARDIOVASCULAR GENETICS Kraja, A T, Cook, J P, Warren, H R, Surendran, P, Liu, C, Evangelou, E, Manning, A K, Grarup, N, Drenos, F, Sim, X, Smith, A V, Amin, N, Blakemore, A I F, Bork-jensen, J, Brandslund, I, Farmaki, A, Fava, C, Ferreira, T, Herzig, K, Giri, A, Giulianini, F, Grove, M L, Guo, X, Harris, S E, Have, C T, Havulinna, A S, Zhang, H, Jørgensen, M E, Käräjämäki, A, Kooperberg, C, Linneberg, A, Little, L, Liu, Y, Bonnycastle, L L, Lu, Y, Mägi, R, Mahajan, A, Malerba, G, Marioni, R E, Mei, H, Menni, C, Morrison, A C, Padmanabhan, S, Palmas, W, Poveda, A, Rauramaa, R, Rayner, N W, Riaz, M, Richard, M A, Smith, J A, Southam, L, Stančáková, A, Stirrups, K E, Tragante, V, Tuomi, T, Tzoulaki, I, Varga, T V, Weiss, S, Yiorkas, A M, Young, R, Zhang, W, Barnes, M R, Cabrera, C P, Gao, H, Boehnke, M, Boerwinkle, E, Chambers, J C, Connell, J M, Christensen, C K, De Boer, R A, Deary, I J, Dedoussis, G, Deloukas, P, Dominiczak, A F, Dörr, M, Joehanes, R, Edwards, T L, Esko, T, Fornage, M, Franceschini, N, Franks, P W, Gambaro, G, Groop, L, Hallmans, G, Hansen, T, Hayward, C, Heikki, O, Ingelsson, E, Tuomilehto, J, Jarvelin, M, Kardia, S L R, Karpe, F, Kooner, J S, Lakka, T A, Langenberg, C, Lind, L, Loos, R J F, Laakso, M, Mccarthy, M I, Melander, O, Mohlke, K L, Morris, A P, Palmer, C N A, Pedersen, O, Polasek, O, Poulter, N R, Province, M A, Psaty, B M, Ridker, P M, Rotter, J I, Rudan, I, Salomaa, V, Samani, N J, Sever, P J, Skaaby, T, Stafford, J M, Starr, J M, Van Der Harst, P, Van Der Meer, P, Van Duijn, C M, Vergnaud, A, Gudnason, V, Wareham, N J, Wilson, J G, Willer, C J, Witte, D R, Zeggini, E, Saleheen, D, Butterworth, A S, Danesh, J, Asselbergs, F W, Wain, L V, Ehret, G B, Chasman, D I, Caulfield, M J, Elliott, P, Lindgren, C M, Levy, D, Newton-cheh, C, Munroe, P B & Howson, J M M 2017, ' New blood pressure–associated loci Identified in meta-analyses of 475 000 individuals ', Circulation: Cardiovascular Genetics, vol. 10, no. 5, pp. e001778 . https://doi.org/10.1161/CIRCGENETICS.117.001778 Grarup, N, Jørgensen, M E, Pedersen, O, Witte, D R & Understanding Society Scientific Group 2017, ' New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals ', Circulation: Cardiovascular Genetics, vol. 10, no. 5, e001778 . https://doi.org/10.1161/CIRCGENETICS.117.001778 |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, Databases, Factual, Neuronal, Association Studies, Genome-wide association study, Blood Pressure, 030204 cardiovascular system & hematology, VARIANTS, Lymphocyte Homing, DISEASE, Antiporters, Cell Adhesion Molecules, Neuronal/genetics, 0302 clinical medicine, Genotype, Receptors, Missense mutation, Settore MED/14 - NEFROLOGIA, FUNCTIONAL VARIATION, CHARGE EXOME BP, CHD Exome+, Exome BP, GoT2D:T2DGenes Consortia, The UK Biobank Cardio-Metabolic Traits Consortium Blood Pressure Working Group†, genetics, Exome, Genetics (clinical), Genetics, Genetics & Heredity, ddc:616, Antiporters/genetics, Microfilament Proteins, blood pressure, Single Nucleotide, sample size, Phenotype, COMPARATIVE RISK-ASSESSMENT, exome, genotype, Cell Adhesion Molecules, Neuronal, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Receptors, Lymphocyte Homing, Genetic Loci, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, SCAVENGER RECEPTOR, Understanding Society Scientific Group, Blood Pressure/genetics, Neuronal/genetics, Locus (genetics), Biology, Gene Expression and Regulation, 1102 Cardiovascular Medicine And Haematology, 03 medical and health sciences, Databases, Microfilament Proteins/genetics, SYSTEMATIC ANALYSIS, Journal Article, GENOME-WIDE ASSOCIATION, Polymorphism, COMMON, Receptors, Lymphocyte Homing/genetics, Factual, Genetic association, 0604 Genetics, Science & Technology, FAT DISTRIBUTION, GLOBAL BURDEN, Minor allele frequency, 030104 developmental biology, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Cell Adhesion Molecules, Lymphocyte Homing/genetics |
| الوصف: | Background— Genome-wide association studies have recently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP from meta-analyses of exome chip genotype data. An additional 100 variants yielded suggestive evidence of association. Methods and Results— Here, we augment the sample with 140 886 European individuals from the UK Biobank, in whom 77 of the 100 suggestive SNVs were available for association analysis with systolic BP or diastolic BP or pulse pressure. We performed 2 meta-analyses, one in individuals of European, South Asian, African, and Hispanic descent (pan-ancestry, ≈475 000), and the other in the subset of individuals of European descent (≈423 000). Twenty-one SNVs were genome-wide significant ( P − 8 ) for BP, of which 4 are new BP loci: rs9678851 (missense, SLC4A1AP ), rs7437940 ( AFAP1 ), rs13303 (missense, STAB1 ), and rs1055144 ( 7p15.2 ). In addition, we identified a potentially independent novel BP-associated SNV, rs3416322 (missense, SYNPO2L ) at a known locus, uncorrelated with the previously reported SNVs. Two SNVs are associated with expression levels of nearby genes, and SNVs at 3 loci are associated with other traits. One SNV with a minor allele frequency DBH ) was genome-wide significant. Conclusions— We report 4 novel loci associated with BP regulation, and 1 independent variant at an established BP locus. This analysis highlights several candidate genes with variation that alter protein function or gene expression for potential follow-up. |
| وصف الملف: | application/pdf; Print; image/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document |
| تدمد: | 1942-3268 1942-325X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d00d3d9a2c7fc810727b3a16ce55974e https://pubmed.ncbi.nlm.nih.gov/29030405 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....d00d3d9a2c7fc810727b3a16ce55974e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19423268 1942325X |
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