Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

Autor:	Surendran, P., Drenos, F., Young, R., Warren, H., Cook, J.P., Manning, A.K., Grarup, N., Sim, X., Barnes, D.R., Witkowska, K., Staley, J.R., Tragante, V., Tukiainen, T., Yaghootkar, H., Masca, N., Freitag, D.F., Ferreira, T., Giannakopoulou, O., Tinker, A., Harakalova, M., Mihailov, E., Liu, C., Kraja, A.T., Nielsen, S.F., Rasheed, A., Samue, M., Zhao, W., Bonnycastle, L.L., Jackson, A.U., Narisu, N., Swift, A.J., Southam, L., Marten, J., Huyghe, J.R., Stancakova, A., Fava, C., Ohlsson, T., Matchan, A., Stirrups, K.E., Bork-Jensen, J., Gjesing, A.P., Kontto, J., Perola, M., Shaw-Hawkins, S., Havulinna, A.S., Zhang, H., Donnelly, L.A., Groves, C.J., Rayner, N.W., Neville, M.J., Robertson, N.R., Yiorkas, A.M., Herzig, K.H., Kajantie, E., Zhang, W., Willems, S.M., Lannfelt, L., Malerba, G., Soranzo, N., Trabetti, E., Verweij, N., Evangelou, E., Moayyeri, A., Vergnaud, A.C., Nelson, C.P., Poveda, A., Varga, T.V., Caslake, M., Craen, A.J.M. de, Trompet, S., Luan, J., Scott, R.A., Harris, S.E., Liewald, D.C.M., Marioni, R., Menni, C., Farmaki, A.E., Hallmans, G., Renstrom, F., Huffman, J.E., Hassinen, M., Burgess, S., Vasan, R.S., Felix, J.F., Uria-Nickelsen, M., Malarstign, A., Reilly, D.F., Hoek, M., Vogt, T.F., Lin, H.H., Lieb, W., Traylor, M., Markus, H.S., Highland, H.M., Justice, A.E., Marouli, E., Lindstrom, J., Uusitupa, M., Komulainen, P., Lakka, T.A., Rauramaa, R., Polasek, O., Rudan, I., Rolandsson, O., Franks, P.W., Dedoussis, G., Spector, T.D., Jousilahti, P., Mannisto, S., Deary, I.J., Starr, J.M., Langenberg, C., Wareham, N.J., Brown, M.J., Dominiczak, A.F., Connell, J.M., Jukema, J.W., Sattar, N., Ford, I., Packard, C.J., Esko, T., Magi, R., Metspalu, A., Boer, R.A. de, Meer, P. van der, Harst, P. van der, Gambaro, G., Ingelsson, E., Lind, L., Bakker, P.I.W. de, Numans, M.E., Brandslund, I., Christensen, C., Petersen, E.R.B., Korpi-Hyovalti, E., Oksa, H., Chambers, J.C., Kooner, J.S., Blakemore, A.I.F., Franks, S., Jarvelin, M.R., Husemoen, L.L., Linneberg, A., Skaaby, T., Thuesen, B., Karpe, F., Tuomilehto, J., Doney, A.S.F., Morris, A.D., Palmer, C.N.A., Holmen, O.L., Hveem, K., Willer, C.J., Tuomi, T., Groop, L., Karajamaki, A., Palotie, A., Ripatti, S., Salomaa, V., Alam, D.S., Majmnder, A.A.S., Angelantonio, E. di, Chowdhury, R., McCarthy, M.I., Poulter, N., Stanton, A.V., Sever, P., Amouyel, P., Arveiler, D., Blankenberg, S., Ferrieres, J., Kee, F., Kuulasmaa, K., Muller-Nurasyid, M., Veronesi, G., Virtamo, J., Deloukas, P., Elliott, P., Zeggini, E., Kathiresan, S., Melander, O., Kuusisto, J., Laakso, M., Padmanabhan, S., Porteous, D.J., Hayward, C., Scotland, G., Collins, F.S., Mohlke, K.L., Hansen, T., Pedersen, O., Boehnke, M., Stringham, H.M., Frossard, P., Newton-Cheh, C., Tobin, M.D., Nordestgaard, B.G., Caulfield, M.J., Mahajan, A., Morris, A.P., Tomaszewski, M., Samani, N.J., Saleheen, D., Asselbergs, F.W., Lindgren, C.M., Danesh, J., Wain, L.V., Butterworth, A.S., Howson, J.M.M., Munroe, P.B., CHARGE Heart Failure Consortiumm, EchoGen Consortiumm, Metastroke Consortiumm, Giant Consortiumm, EPIC-InterAct Consortium, Lifelines Cohort Study, Wellcome Trust Case Control Consor, Understanding Soc Sci Grp, EPIC-CVD Consortium, CHARGE Exome Chip Blood Pressure C, T2D-GENES Consortium, GoT2DGenes Consortium, ExomeBP Consortium, CHD Exome Consortium
Přispěvatelé:	Erasmus MC other, Epidemiology, Internal Medicine, Cardiovascular Centre (CVC), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Surendran, Praveen [0000-0002-4911-6077], Barnes, Daniel [0000-0002-3781-7570], Marten, Jonathan [0000-0001-6916-2014], Johnson, Kathleen [0000-0002-6823-3252], Soranzo, Nicole [0000-0003-1095-3852], Luan, Jian'an [0000-0003-3137-6337], Burgess, Stephen [0000-0001-5365-8760], Traylor, Matthew [0000-0001-6624-8621], Markus, Hugh [0000-0002-9794-5996], Langenberg, Claudia [0000-0002-5017-7344], Wareham, Nicholas [0000-0003-1422-2993], Di Angelantonio, Emanuele [0000-0001-8776-6719], Chowdhury, Rajiv [0000-0003-4881-5690], Danesh, John [0000-0003-1158-6791], Butterworth, Adam [0000-0002-6915-9015], Howson, Joanna [0000-0001-7618-0050], Apollo - University of Cambridge Repository, British Heart Foundation, Home Office, Medical Research Council (MRC), Wellcome Trust, National Institute for Health Research, Action on Hearing Loss
Jazyk:	angličtina
Předmět:	0301 basic medicine EchoGen Consortium Population genetics LOCI Genome-wide association study Blood Pressure 030204 cardiovascular system & hematology Bioinformatics Genome-wide association studies 0302 clinical medicine Settore MED/14 - NEFROLOGIA Missense mutation GENE-CENTRIC ARRAY GoT2DGenes Consortium AGING RESEARCH Genetics education.field_of_study CHD Exome+ Consortium CHARGE-Heart Failure Consortium 11 Medical And Health Sciences 3. Good health CARDIOVASCULAR-DISEASE Hypertension Medical genetics HEART Wellcome Trust Case Control Consortium EPIC-InterAct Consortium ExomeBP Consortium CHARGE Understanding Society Scientific Group medicine.medical_specialty Genotype Population Biology CHARGE+ Exome Chip Blood Pressure Consortium EPIC-CVD Consortium Article 03 medical and health sciences Lifelines Cohort Study genome-wide association studies hypertension population genetics Genetic variation GIANT Consortium medicine Journal Article Humans Genetic Predisposition to Disease Allele GENOME-WIDE ASSOCIATION education PLASMA-LEVELS IDENTIFICATION Genetic Variation 06 Biological Sciences medicine.disease METASTROKE Consortium T2D-GENES Consortium 030104 developmental biology Blood pressure Pathophysiology of hypertension RISK-FACTORS Developmental Biology Genome-Wide Association Study blood pressure gene
Zdroj:	Nature Genetics, 48(10), 1151-1161. Nature Publishing Group Nature Genetics, 48(10), 1151-1161 Nature Genetics, 48(10), 1151. Nature Publishing Group NATURE GENETICS Nature genetics CHARGE-Heart Failure Consortium, EchoGen Consortium, METASTROKE Consortium, GIANT Consortium, EPIC-InterAct Consortium, Lifelines Cohort Study, Wellcome Trust Case Control Consortium, Understanding Society Scientific Group, Generation Scotland, EPIC-CVD Consortium, CHARGE+ Exome Chip Blood Pressure Consortium, T2D-GENES Consortium, GoT2DGenes Consortium, ExomeBP Consortium & CHD Exome+ Consortium 2016, ' Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension ', Nature Genetics, vol. 48, no. 10, pp. 1151-1161 . https://doi.org/10.1038/ng.3654 Surendran, P, Drenos, F, Young, R, Warren, H, Cook, J P, Manning, A K, Grarup, N, Sim, X, Barnes, D R, Witkowska, K, Staley, J R, Tragante, V, Tukiainen, T, Yaghootkar, H, Masca, N, Freitag, D F, Ferreira, T, Giannakopoulou, O, Tinker, A, Harakalova, M, Mihailov, E, Liu, C, Kraja, A T, Nielsen, S F, Rasheed, A, Samuel, M, Zhao, W, Bonnycastle, L L, Jackson, A U, Narisu, N, Swift, A J, Southam, L, Marten, J, Huyghe, J R, Stančáková, A, Fava, C, Ohlsson, T, Matchan, A, Stirrups, K E, Bork-Jensen, J, Gjesing, A P, Kontto, J, Perola, M, Shaw-Hawkins, S, Havulinna, A S, Zhang, H, Donnelly, L A, Groves, C J, Rayner, N W, Neville, M J, Robertson, N R, Yiorkas, A M, Herzig, K H, Kajantie, E, Zhang, W, Willems, S M, Lannfelt, L, Malerba, G, Soranzo, N, Trabetti, E, Verweij, N, Evangelou, E, Moayyeri, A, Vergnaud, A C, Nelson, C P, Poveda, A, Varga, T V, Caslake, M, De Craen, A J M, Trompet, S, Luan, JA, Scott, R A, Harris, S E, Liewald, D C M, Marioni, R, Menni, C, Farmaki, A E, Hallmans, G, Renström, F, Huffman, J E, Hassinen, M, Burgess, S, Vasan, R S, Felix, J F, Uria-Nickelsen, M, Malarstig, A, Reilly, D F, Hoek, M, Vogt, T F, Lin, H, Lieb, W, Traylor, M, Markus, H S, Highland, H M, Justice, A E, Marouli, E, Lindström, J, Uusitupa, M, Komulainen, P, Lakka, T A, Rauramaa, R, Polasek, O, Rudan, I, Rolandsson, O, Franks, P W, Dedoussis, G, Spector, T D, Jousilahti, P, Männistö, S, Deary, I J, Starr, J M, Langenberg, C, Wareham, N J, Brown, M J, Dominiczak, A F, Connell, J M, Jukema, J W, Sattar, N, Ford, I, Packard, C J, Esko, T, Mägi, R, Metspalu, A, De Boer, R A, Van Der Meer, P, Van Der Harst, P, Gambaro, G, Ingelsson, E, Lind, L, De Bakker, P I W, Numans, M E, Brandslund, I, Christensen, C, Petersen, E R B, Korpi-Hyövälti, E, Oksa, H, Chambers, J C, Kooner, J S, Blakemore, A I F, Franks, S, Jarvelin, M R, Husemoen, L L, Linneberg, A, Skaaby, T, Thuesen, B, Karpe, F, Tuomilehto, J, Doney, A S F, Morris, A D, Palmer, C N A, Holmen, O L, Hveem, K, Willer, C J, Tuomi, T, Groop, L, Käräjämäki, A, Palotie, A, Ripatti, S, Salomaa, V, Alam, D S, Majumder, A A S, Di Angelantonio, E, Chowdhury, R, McCarthy, M I, Poulter, N, Stanton, A V, Sever, P, Amouyel, P, Arveiler, D, Blankenberg, S, Ferrières, J, Kee, F, Kuulasmaa, K, Müller-Nurasyid, M, Veronesi, G, Virtamo, J, Deloukas, P, Elliott, P, Zeggini, E, Kathiresan, S, Melander, O, Kuusisto, J, Laakso, M, Padmanabhan, S, Porteous, D J, Hayward, C, Scotland, G, Collins, F S, Mohlke, K L, Hansen, T, Pedersen, O, Boehnke, M, Stringham, H M, Frossard, P, Newton-Cheh, C, Tobin, M D, Nordestgaard, B G, Caulfield, M J, Mahajan, A, Morris, A P, Tomaszewski, M, Samani, N J, Saleheen, D, Asselbergs, F W, Lindgren, C M, Danesh, J, Wain, L V, Butterworth, A S, Howson, J M M & Munroe, P B 2016, ' Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension ', Nature Genetics, vol. 48, no. 10, pp. 1151-1161 . https://doi.org/10.1038/ng.3654 Nature Genetics Surendran, P, Drenos, F, Young, R, Warren, H, Cook, J P, Manning, A K, Grarup, N, Sim, X, Barnes, D R, Witkowska, K, Staley, J R, Tragante, V, Tukiainen, T, Yaghootkar, H, Masca, N, Freitag, D F, Ferreira, T, Giannakopoulou, O, Tinker, A, Harakalova, M, Mihailov, E, Liu, C, Kraja, A T, Nielsen, S F, Rasheed, A, Samuel, M, Zhao, W, Bonnycastle, L L, Jackson, A U, Narisu, N, Swift, A J, Southam, L, Marten, J, Huyghe, J R, Stančáková, A, Fava, C, Ohlsson, T, Matchan, A, Stirrups, K E, Bork-Jensen, J, Harris, S E, Liewald, D C M, Marioni, R, Polasek, O, Rudan, I, Deary, I J, Starr, J M, Morris, A D & Porteous, D J & Hayward, C 2016, ' Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension ', Nature Genetics . https://doi.org/10.1038/ng.3654
ISSN:	1546-1718 1061-4036
DOI:	10.1038/ng.3654
Popis:	High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used ~155,063 samples for independent replication. We identified 30 new blood pressure– or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention. N.P. has received financial support from several pharmaceutical companies that manufacture either blood pressure -lowering or lipid-lowering agents, or both, and consultancy fees. S.K. has received research grants from Merck, Bayer and Aegerion, is on the SAB of Catabasis, Regeneron Genetics Center, Merck and Celera, has equity in San Therapeutics and Catabasis, and performs consulting for Novartis, Aegerion, Bristol Myers Squibb, Sanofi, AstraZeneca and Alnylam. P. Sever has received research awards from Pfizer. A. Malarstig and M.U.-N. are full-time employees of Pfizer. D.F.R. and M. Hoek are full-time employees of Merck. M.J.C. is Chief Scientist for Genomics England, a UK government company. The authors declare no other competing financial interests.
Databáze:	OpenAIRE
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