作者
Dragana Vuckovic, Erik L Bao, Parsa Akbari, Caleb A Lareau, Abdou Mousas, Tao Jiang, Ming-Huei Chen, Laura M Raffield, Manuel Tardaguila, Jennifer E Huffman, Scott C Ritchie, Karyn Megy, Hannes Ponstingl, Christopher J Penkett, Patrick K Albers, Emilie M Wigdor, Saori Sakaue, Arden Moscati, Regina Manansala, Ken Sin Lo, Huijun Qian, Masato Akiyama, Traci M Bartz, Yoav Ben-Shlomo, Andrew Beswick, Jette Bork-Jensen, Erwin P Bottinger, Jennifer A Brody, Frank JA van Rooij, Kumaraswamy N Chitrala, Peter WF Wilson, Hélène Choquet, John Danesh, Emanuele Di Angelantonio, Niki Dimou, Jingzhong Ding, Paul Elliott, Tõnu Esko, Michele K Evans, Stephan B Felix, James S Floyd, Linda Broer, Niels Grarup, Michael H Guo, Qi Guo, Andreas Greinacher, Jeff Haessler, Torben Hansen, Joanna MM Howson, Wei Huang, Eric Jorgenson, Tim Kacprowski, Mika Kähönen, Yoichiro Kamatani, Masahiro Kanai, Savita Karthikeyan, Fotios Koskeridis, Leslie A Lange, Terho Lehtimäki, Allan Linneberg, Yongmei Liu, Leo-Pekka Lyytikäinen, Ani Manichaikul, Koichi Matsuda, Karen L Mohlke, Nina Mononen, Yoshinori Murakami, Girish N Nadkarni, Kjell Nikus, Nathan Pankratz, Oluf Pedersen, Michael Preuss, Bruce M Psaty, Olli T Raitakari, Stephen S Rich, Benjamin AT Rodriguez, Jonathan D Rosen, Jerome I Rotter, Petra Schubert, Cassandra N Spracklen, Praveen Surendran, Hua Tang, Jean-Claude Tardif, Mohsen Ghanbari, Uwe Völker, Henry Völzke, Nicholas A Watkins, Stefan Weiss, VA Million Veteran Program, Na Cai, Kousik Kundu, Stephen B Watt, Klaudia Walter, Alan B Zonderman, Kelly Cho, Yun Li, Ruth JF Loos, Julian C Knight, Michel Georges, Oliver Stegle, Evangelos Evangelou, Yukinori Okada, David J Roberts, Michael Inouye, Andrew D Johnson, Paul L Auer, William J Astle, Alexander P Reiner, Adam S Butterworth, Willem H Ouwehand, Guillaume Lettre, Vijay G Sankaran, Nicole Soranzo
发表日期
2020/9/3
期刊
Cell
卷号
182
期号
5
页码范围
1214-1231. e11
出版商
Cell Press
简介
Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of …
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D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020