Λεπτομέρειες βιβλιογραφικής εγγραφής
| Τίτλος: |
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals |
| Συγγραφείς: |
Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen LY, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN, Giri A, Tragante V, Thorleifsson G, Liu DJJ, Prins BP, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, Daw EW, Warren HR, Drenos F, Nielsen SF, Faul JD, Fauman EB, Fava C, Ferreira T, Foley CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo XQ, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang SJ, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindstrom J, Lotta LA, Lu YC, Luan JA, Mahajan A, Malerba G, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Muller-Nurasyid M, Pare G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepulveda N, Sim XL, Smith AV, Smith JA, Staley JR, Stanakova A, Sulem P, Theriault S, Thorsteinsdottir U, Trompet S, Varga TV, Edwards DRV, Veronesi G, Weiss S, Willems SM, Yao J, Young RB, Yu B, Zhang WH, Zhao JH, Zhao W, Evangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, de Mutsert R, Dominiczak AF, Dorr M, Eiriksdottir G, Farmaki AE, Gaziano JM, Grarup N, Grove ML, Hallmans G, Hansen T, Have CT, Heiss G, Jorgensen ME, Jousilahti P, Kajantie E, Kamat M, Karajamaki A, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen T, Lannfelt L, Lee IT, Lee WJ, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville MJ, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, Rayner NW, Magi R, Renstrom F, Rettig R, Rossouw J, Schreiner PJ, Sever PS, Sigurdsson EL, Skaaby T, Sun YV, Sundstrom J, Thorgeirsson G, Esko T, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud AC, Willer CJ, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buring JE, Chambers JC, Chen YDI, Chowdhury R, Conen D, Correa A, Smith GD, de Boer RA, Deary IJ, Dedoussis G, Deloukas P, Di Angelantonio E, Elliott P, Felix SB, Ferrieres J, Ford I, Fornage M, Franks PW, Franks S, Frossard P, Gambaro G, Gaunt TR, Groop L, Gudnason V, Harris TB, Hayward C, Hennig BJ, Herzig KH, Ingelsson E, Tuomilehto J, Jarvelin MR, Jukema JW, Kardia SLR, Kee F, Kooner JS, Kooperberg C, Launer LJ, Lind L, Loos RJF, Majumder AA, Laakso M, McCarthy MI, Melander O, Mohlke KL, Murray AD, Nordestgaard BG, Orho-Melander M, Packard CJ, Padmanabhan S, Palmas W, Polasek O, Porteous DJ, Prentice AM, Province MA, Relton CL, Rice K, Ridker PM, Rolandsson O, Rosendaal FR, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sattar N, Sheu WHH, Smith BH, Soranzo N, Spector TD, Starr JM, Sebert S, Taylor KD, Lakka TA, Timpson NJ, Tobin MD, van der Harst P, van der Meer P, Ramachandran VS, Verweij N, Virtamo J, Volker U, Weir DR, Zeggini E, Charchar FJ, Wareham NJ, Langenberg C, Tomaszewski M, Butterworth AS, Caulfield MJ, Danesh J, Edwards TL, Holm H, Hung AM, Lindgren CM, Liu CY, Manning AK, Morris AP, Morrison AC, O'Donnell CJ, Psaty BM, Saleheen D, Stefansson K, Boerwinkle E, Chasman DI, Levy D, Newton-Cheh C, Munroe PB, Howson JMM |
| Συνεισφορές: |
P. Surendran, E. Feofanova, N. Lahrouchi, I. Ntalla, S. Karthikeyan, J. Cook, L. Chen, B. Mifsud, C. Yao, A. Kraja, J. Cartwright, J. Hellwege, A. Giri, V. Tragante, G. Thorleifsson, D. Liu, B. Prin, I. Stewart, C. Cabrera, J. Eale, A. Akbarov, P. Auer, L. Bielak, J. Bi, V. Braithwaite, J. Brody, E. Daw, H. Warren, F. Dreno, S. Nielsen, J. Faul, E. Fauman, C. Fava, T. Ferreira, C. Foley, N. Franceschini, H. Gao, O. Giannakopoulou, F. Giulianini, D. Gudbjartsson, X. Guo, S. Harri, A. Havulinna, A. Helgadottir, J. Huffman, S. Hwang, S. Kanoni, J. Kontto, M. Larson, R. Li-Gao, J. Lindstrom, L. Lotta, Y. Lu, J. Luan, A. Mahajan, G. Malerba, N. Masca, H. Mei, C. Menni, D. Mook-Kanamori, D. Mosen-Ansorena, M. Muller-Nurasyid, G. Pare, D. Paul, M. Perola, A. Poveda, R. Rauramaa, M. Richard, T. Richardson, N. Sepulveda, X. Sim, A. Smith, J. Smith, J. Staley, A. Stanakova, P. Sulem, S. Theriault, U. Thorsteinsdottir, S. Trompet, T. Varga, D. Edward, G. Veronesi, S. Wei, S. Willem, J. Yao, R. Young, B. Yu, W. Zhang, J. Zhao, W. Zhao, E. Evangelou, S. Aeschbacher, E. Asllanaj, S. Blankenberg, L. Bonnycastle, J. Bork-Jensen, I. Brandslund, P. Braund, S. Burge |
| Έτος έκδοσης: |
2020 |
| Συλλογή: |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| Θεματικοί όροι: |
Settore MEDS-24/A - Statistica medica |
| Περιγραφή: |
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets. |
| Τύπος εγγράφου: |
article in journal/newspaper |
| Γλώσσα: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/33230300; info:eu-repo/semantics/altIdentifier/wos/WOS:000592028900001; volume:52; issue:12; firstpage:1314; lastpage:1332; numberofpages:19; journal:NATURE GENETICS; https://hdl.handle.net/2434/1100331 |
| Διαθεσιμότητα: |
https://hdl.handle.net/2434/1100331 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Αριθμός Καταχώρησης: |
edsbas.9E3A558E |
| Βάση Δεδομένων: |
BASE |