Publications

Authors:

Surendran, Praveen; Feofanova, Elena V; Lahrouchi, Najim; Ntalla, Ioanna; Karthikeyan, Savita; Cook, James; Chen, Lingyan; Mifsud, Borbala; Yao, Chen; Kraja, Aldi T; Cartwright, James H; Hellwege, Jacklyn N; Giri, Ayush; Tragante, Vinicius; Thorleifsson, Gudmar; Liu, Dajiang J; Prins, Bram P; Stewart, Isobel D; Cabrera, Claudia P; Eales, James M; Akbarov, Artur; Auer, Paul L; Bielak, Lawrence F; Bis, Joshua C; Braithwaite, Vickie S; Brody, Jennifer A; Daw, E Warwick; Warren, Helen R; Drenos, Fotios; Nielsen, Sune Fallgaard; Faul, Jessica D; Fauman, Eric B; Fava, Cristiano; Ferreira, Teresa; Foley, Christopher N; Franceschini, Nora; Gao, He; Giannakopoulou, Olga; Giulianini, Franco; Gudbjartsson, Daniel F; Guo, Xiuqing; Harris, Sarah E; Havulinna, Aki S; Helgadottir, Anna; Huffman, Jennifer E; Hwang, Shih-Jen; Kanoni, Stavroula; Kontto, Jukka; Larson, Martin G; Li-Gao, Ruifang; Lindström, Jaana; Lotta, Luca A; Lu, Yingchang; Luan, Jian'An; Mahajan, Anubha; Malerba, Giovanni; Masca, Nicholas G D; Mei, Hao; Menni, Cristina; Mook-Kanamori, Dennis O; Mosen-Ansorena, David; Müller-Nurasyid, Martina; Paré, Guillaume; Paul, Dirk S; Perola, Markus; Poveda, Alaitz; Rauramaa, Rainer; Richard, Melissa; Richardson, Tom G; Sepúlveda, Nuno; Sim, Xueling; Smith, Albert V; Smith, Jennifer A; Staley, James R; Stanáková, Alena; Sulem, Patrick; Thériault, Sébastien; Thorsteinsdottir, Unnur; Trompet, Stella; Varga, Tibor V; Velez Edwards, Digna R; Veronesi, Giovanni; Weiss, Stefan; Willems, Sara M; Yao, Jie; Young, Robin; Yu, Bing; Zhang, Weihua; Zhao, Jing-Hua; Zhao, Wei; Zhao, Wei; Evangelou, Evangelos; Aeschbacher, Stefanie; Asllanaj, Eralda; Blankenberg, Stefan; Bonnycastle, Lori L; Bork-Jensen, Jette; Brandslund, Ivan; Braund, Peter S; Burgess, Stephen; Cho, Kelly; Christensen, Cramer; Connell, John; Mutsert, Renée de; Dominiczak, Anna F; Dörr, Marcus; Eiriksdottir, Gudny; Farmaki, Aliki-Eleni; Gaziano, J Michael; Grarup, Niels; Grove, Megan L; Hallmans, Göran; Hansen, Torben; Have, Christian T; Heiss, Gerardo; Jørgensen, Marit E; Jousilahti, Pekka; Kajantie, Eero; Kamat, Mihir; Käräjämäki, Annemari; Karpe, Fredrik; Koistinen, Heikki A; Kovesdy, Csaba P; Kuulasmaa, Kari; Laatikainen, Tiina; Lannfelt, Lars; Lee, I-Te; Lee, Wen-Jane; Linneberg, Allan; Martin, Lisa W; Moitry, Marie; Nadkarni, Girish; Neville, Matt J; Palmer, Colin N A; Papanicolaou, George J; Pedersen, Oluf; Peters, James; Poulter, Neil; Rasheed, Asif; Rasmussen, Katrine L; Rayner, N William; Mägi, Reedik; Renström, Frida; Rettig, Rainer; Rossouw, Jacques; Schreiner, Pamela J; Sever, Peter S; Sigurdsson, Emil L; Skaaby, Tea; Sun, Yan V; Sundstrom, Johan; Thorgeirsson, Gudmundur; Esko, Tõnu; Trabetti, Elisabetta; Tsao, Philip S; Tuomi, Tiinamaija; Turner, Stephen T; Tzoulaki, Ioanna; Vaartjes, Ilonca; Vergnaud, Anne-Claire; Willer, Cristen J; Wilson, Peter W F; Witte, Daniel R; Yonova-Doing, Ekaterina; Zhang, He; Aliya, Naheed; Almgren, Peter; Amouyel, Philippe; Asselbergs, Folkert W; Barnes, Michael R; Blakemore, Alexandra I; Boehnke, Michael; Bots, Michiel L; Bottinger, Erwin P; Buring, Julie E; Chambers, John C; Chen, Yii-Der Ida; Chowdhury, Rajiv; Conen, David; Correa, Adolfo; Davey Smith, George; Boer, Rudolf A de; Deary, Ian J; Dedoussis, George; Deloukas, Panos; Di Angelantonio, Emanuele; Elliott, Paul; Felix, Stephan B; Ferrières, Jean; Ford, Ian; Fornage, Myriam; Franks, Paul W; Franks, Stephen; Frossard, Philippe; Gambaro, Giovanni; Gaunt, Tom R; Groop, Leif; Gudnason, Vilmundur; Harris, Tamara B; Hayward, Caroline; Hennig, Branwen J; Herzig, Karl-Heinz; Ingelsson, Erik; Tuomilehto, Jaakko; Järvelin, Marjo-Riitta; Jukema, J Wouter; Kardia, Sharon L R; Kee, Frank; Kooner, Jaspal S; Kooperberg, Charles; Launer, Lenore J; Lind, Lars; Loos, Ruth J F; Majumder, Abdulla Al Shafi; Laakso, Markku; Mccarthy, Mark I; Melander, Olle; Mohlke, Karen L; Murray, Alison D; Nordestgaard, Børge Grønne; Orho-Melander, Marju; Packard, Chris

Title:

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

Nature Genetics

ISSN of journal:

1061-4036

N° Volume:

52

Number or Folder:

12

Page numbers:

1314-1332

Keyword:

hypertension; blood pressure; genetics; meta-analysis; epidemiology

Short description of contents:

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 ~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 × 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 ~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.

Web page:

https://www.nature.com/articles/s41588-020-00713-x

Product ID:

118904

Handle IRIS:

11562/1034333

Last Modified:

January 29, 2025

Bibliographic citation:

Surendran, Praveen; Feofanova, Elena V; Lahrouchi, Najim; Ntalla, Ioanna; Karthikeyan, Savita; Cook, James; Chen, Lingyan; Mifsud, Borbala; Yao, Chen; Kraja, Aldi T; Cartwright, James H; Hellwege, Jacklyn N; Giri, Ayush; Tragante, Vinicius; Thorleifsson, Gudmar; Liu, Dajiang J; Prins, Bram P; Stewart, Isobel D; Cabrera, Claudia P; Eales, James M; Akbarov, Artur; Auer, Paul L; Bielak, Lawrence F; Bis, Joshua C; Braithwaite, Vickie S; Brody, Jennifer A; Daw, E Warwick; Warren, Helen R; Drenos, Fotios; Nielsen, Sune Fallgaard; Faul, Jessica D; Fauman, Eric B; Fava, Cristiano; Ferreira, Teresa; Foley, Christopher N; Franceschini, Nora; Gao, He; Giannakopoulou, Olga; Giulianini, Franco; Gudbjartsson, Daniel F; Guo, Xiuqing; Harris, Sarah E; Havulinna, Aki S; Helgadottir, Anna; Huffman, Jennifer E; Hwang, Shih-Jen; Kanoni, Stavroula; Kontto, Jukka; Larson, Martin G; Li-Gao, Ruifang; Lindström, Jaana; Lotta, Luca A; Lu, Yingchang; Luan, Jian'An; Mahajan, Anubha; Malerba, Giovanni; Masca, Nicholas G D; Mei, Hao; Menni, Cristina; Mook-Kanamori, Dennis O; Mosen-Ansorena, David; Müller-Nurasyid, Martina; Paré, Guillaume; Paul, Dirk S; Perola, Markus; Poveda, Alaitz; Rauramaa, Rainer; Richard, Melissa; Richardson, Tom G; Sepúlveda, Nuno; Sim, Xueling; Smith, Albert V; Smith, Jennifer A; Staley, James R; Stanáková, Alena; Sulem, Patrick; Thériault, Sébastien; Thorsteinsdottir, Unnur; Trompet, Stella; Varga, Tibor V; Velez Edwards, Digna R; Veronesi, Giovanni; Weiss, Stefan; Willems, Sara M; Yao, Jie; Young, Robin; Yu, Bing; Zhang, Weihua; Zhao, Jing-Hua; Zhao, Wei; Zhao, Wei; Evangelou, Evangelos; Aeschbacher, Stefanie; Asllanaj, Eralda; Blankenberg, Stefan; Bonnycastle, Lori L; Bork-Jensen, Jette; Brandslund, Ivan; Braund, Peter S; Burgess, Stephen; Cho, Kelly; Christensen, Cramer; Connell, John; Mutsert, Renée de; Dominiczak, Anna F; Dörr, Marcus; Eiriksdottir, Gudny; Farmaki, Aliki-Eleni; Gaziano, J Michael; Grarup, Niels; Grove, Megan L; Hallmans, Göran; Hansen, Torben; Have, Christian T; Heiss, Gerardo; Jørgensen, Marit E; Jousilahti, Pekka; Kajantie, Eero; Kamat, Mihir; Käräjämäki, Annemari; Karpe, Fredrik; Koistinen, Heikki A; Kovesdy, Csaba P; Kuulasmaa, Kari; Laatikainen, Tiina; Lannfelt, Lars; Lee, I-Te; Lee, Wen-Jane; Linneberg, Allan; Martin, Lisa W; Moitry, Marie; Nadkarni, Girish; Neville, Matt J; Palmer, Colin N A; Papanicolaou, George J; Pedersen, Oluf; Peters, James; Poulter, Neil; Rasheed, Asif; Rasmussen, Katrine L; Rayner, N William; Mägi, Reedik; Renström, Frida; Rettig, Rainer; Rossouw, Jacques; Schreiner, Pamela J; Sever, Peter S; Sigurdsson, Emil L; Skaaby, Tea; Sun, Yan V; Sundstrom, Johan; Thorgeirsson, Gudmundur; Esko, Tõnu; Trabetti, Elisabetta; Tsao, Philip S; Tuomi, Tiinamaija; Turner, Stephen T; Tzoulaki, Ioanna; Vaartjes, Ilonca; Vergnaud, Anne-Claire; Willer, Cristen J; Wilson, Peter W F; Witte, Daniel R; Yonova-Doing, Ekaterina; Zhang, He; Aliya, Naheed; Almgren, Peter; Amouyel, Philippe; Asselbergs, Folkert W; Barnes, Michael R; Blakemore, Alexandra I; Boehnke, Michael; Bots, Michiel L; Bottinger, Erwin P; Buring, Julie E; Chambers, John C; Chen, Yii-Der Ida; Chowdhury, Rajiv; Conen, David; Correa, Adolfo; Davey Smith, George; Boer, Rudolf A de; Deary, Ian J; Dedoussis, George; Deloukas, Panos; Di Angelantonio, Emanuele; Elliott, Paul; Felix, Stephan B; Ferrières, Jean; Ford, Ian; Fornage, Myriam; Franks, Paul W; Franks, Stephen; Frossard, Philippe; Gambaro, Giovanni; Gaunt, Tom R; Groop, Leif; Gudnason, Vilmundur; Harris, Tamara B; Hayward, Caroline; Hennig, Branwen J; Herzig, Karl-Heinz; Ingelsson, Erik; Tuomilehto, Jaakko; Järvelin, Marjo-Riitta; Jukema, J Wouter; Kardia, Sharon L R; Kee, Frank; Kooner, Jaspal S; Kooperberg, Charles; Launer, Lenore J; Lind, Lars; Loos, Ruth J F; Majumder, Abdulla Al Shafi; Laakso, Markku; Mccarthy, Mark I; Melander, Olle; Mohlke, Karen L; Murray, Alison D; Nordestgaard, Børge Grønne; Orho-Melander, Marju; Packard, Chris, Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals «Nature Genetics» , vol. 52 , n. 12 , 2020 , pp. 1314-1332

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo