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Peer-reviewed

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

Praveen Surendran, Elena V. Feofanova, Najim Lahrouchi, Ioanna Ntalla, Savita Karthikeyan, James P. Cook, Lingyan Chen, Borbála Mifsud, Chen Yao, Aldi T. Kraja, James Cartwright, Jacklyn N. Hellwege, Ayush Giri, Vinicius Tragante, Guðmar Þorleifsson, Dajiang J. Liu, Bram P. Prins, Isobel D. Stewart, Claudia P. Cabrera, James Eales, Artur Akbarov, Paul L. Auer, Lawrence F. Bielak, Joshua C. Bis, Vickie Braithwaite, Jennifer A. Brody, E. Warwick Daw, Helen R. Warren, Fotios Drenos, Sune Fallgaard Nielsen, Jessica D. Faul, Eric B. Fauman, Cristiano Fava, Teresa Ferreira, Christopher N. Foley, Nora Franceschini, He Gao, Olga Giannakopoulou, Franco Giulianini, Daníel F. Guðbjartsson, Xiuqing Guo, Sarah E. Harris, Aki S. Havulinna, Anna Helgadóttir, Jennifer E. Huffman, Shih‐Jen Hwang, Stavroula Kanoni, Jukka Kontto, Martin G. Larson, Ruifang Li‐Gao, Jaana Lindström, Luca A. Lotta, Yingchang Lu, Jian’an Luan, Anubha Mahajan, Giovanni Malerba, Nicholas G. D. Masca, Hao Mei, Cristina Menni, Dennis O. Mook‐Kanamori, David Mosén-Ansorena, Martina Müller‐Nurasyid, Guillaume Paré, Dirk S. Paul, Markus Perola, Alaitz Poveda, Rainer Rauramaa, Melissa A. Richard, Tom G. Richardson, Nuno Sepúlveda, Xueling Sim, Albert V. Smith, Jennifer A. Smith, James R Staley, Alena Stanáková, Patrick Sulem, Sébastien Thériault, Unnur Þorsteinsdóttir, Stella Trompet, Tibor V. Varga, Digna R. Velez Edwards, Giovanni Veronesi, Stefan Weiß, Sara M. Willems, Jie Yao, Robin Young, Bing Yu, Weihua Zhang, Jinghua Zhao, Wei Zhao, Wei Zhao, Εvangelos Εvangelou, Stefanie Aeschbacher, Eralda Asllanaj, Stefan Blankenberg, Lori L. Bonnycastle, Jette Bork‐Jensen, Ivan Brandslund, Peter S. Braund, Stephen Burgess

Nature Genetics · 2020

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Summary

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<sup>-8</sup>), 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 de

Source type
Peer-reviewed study
DOI
10.1038/s41588-020-00713-x
Catalogue ID
SNmohdwj4i-6ibb24
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