Stroke genetics informs drug discovery and risk prediction across ancestries.

Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an indepen... Mehr ...

Verfasser: Mishra, Aniket
Malik, Rainer
Hachiya, Tsuyoshi
Jürgenson, Tuuli
Namba, Shinichi
Posner, Daniel C
Kamanu, Frederick K
Koido, Masaru
Le Grand, Quentin
Shi, Mingyang
He, Yunye
Georgakis, Marios K
Caro, Ilana
Krebs, Kristi
Liaw, Yi-Ching
Vaura, Felix C
Lin, Kuang
Winsvold, Bendik Slagsvold
Srinivasasainagendra, Vinodh
Parodi, Livia
Bae, Hee-Joon
Chauhan, Ganesh
Chong, Michael R
Tomppo, Liisa
Akinyemi, Rufus
Roshchupkin, Gennady V
Habib, Naomi
Jee, Yon Ho
Thomassen, Jesper Qvist
Abedi, Vida
Cárcel-Márquez, Jara
Nygaard, Marianne
Leonard, Hampton L
Yang, Chaojie
Yonova-Doing, Ekaterina
Knol, Maria J
Lewis, Adam J
Judy, Renae L
Ago, Tetsuro
Amouyel, Philippe
Armstrong, Nicole D
Bakker, Mark K
Bartz, Traci M
Bennett, David A
Bis, Joshua C
Bordes, Constance
Børte, Sigrid
Cain, Anael
Ridker, Paul M
Cho, Kelly
Chen, Zhengming
Cruchaga, Carlos
Cole, John W
de Jager, Phil L
de Cid, Rafael
Endres, Matthias
Ferreira, Leslie E
Geerlings, Mirjam I
Gasca, Natalie C
Gudnason, Vilmundur
Hata, Jun
He, Jing
Heath, Alicia K
Ho, Yuk-Lam
Havulinna, Aki S
Hopewell, Jemma C
Hyacinth, Hyacinth I
Inouye, Michael
Jacob, Mina A
Jeon, Christina E
Jern, Christina
Kamouchi, Masahiro
Keene, Keith L
Kitazono, Takanari
Kittner, Steven J
Konuma, Takahiro
Kumar, Amit
Lacaze, Paul
Launer, Lenore J
Lee, Keon-Joo
Lepik, Kaido
Li, Jiang
Li, Liming
Manichaikul, Ani
Markus, Hugh S
Marston, Nicholas A
Meitinger, Thomas
Mitchell, Braxton D
Montellano, Felipe A
Morisaki, Takayuki
Mosley, Thomas H
Nalls, Mike A
Nordestgaard, Børge G
O'Donnell, Martin J
Okada, Yukinori
Onland-Moret, N Charlotte
Ovbiagele, Bruce
Peters, Annette
Psaty, Bruce M
Rich, Stephen S
Rosand, Jonathan
Sabatine, Marc S
Sacco, Ralph L
Saleheen, Danish
Sandset, Else Charlotte
Salomaa, Veikko
Sargurupremraj, Muralidharan
Sasaki, Makoto
Satizabal, Claudia L
Schmidt, Carsten O
Shimizu, Atsushi
Smith, Nicholas L
Sloane, Kelly L
Sutoh, Yoichi
Sun, Yan V
Tanno, Kozo
Tiedt, Steffen
Tatlisumak, Turgut
Torres-Aguila, Nuria P
Tiwari, Hemant K
Trégouët, David-Alexandre
Trompet, Stella
Tuladhar, Anil Man
Tybjærg-Hansen, Anne
van Vugt, Marion
Vibo, Riina
Verma, Shefali S
Wiggins, Kerri L
Wennberg, Patrik
Woo, Daniel
Wilson, Peter WF
Xu, Huichun
Yang, Qiong
Yoon, Kyungheon
COMPASS Consortium
INVENT Consortium
Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group
Estonian Biobank
PRECISEQ Consortium
FinnGen Consortium
NINDS Stroke Genetics Network (SiGN)
MEGASTROKE Consortium
SIREN Consortium
China Kadoorie Biobank Collaborative Group
VA Million Veteran Program
International Stroke Genetics Consortium (ISGC)
Biobank Japan
CHARGE Consortium
GIGASTROKE Consortium
Millwood, Iona Y
Gieger, Christian
Ninomiya, Toshiharu
Grabe, Hans J
Jukema, J Wouter
Rissanen, Ina L
Strbian, Daniel
Kim, Young Jin
Chen, Pei-Hsin
Mayerhofer, Ernst
Howson, Joanna MM
Irvin, Marguerite R
Adams, Hieab
Wassertheil-Smoller, Sylvia
Christensen, Kaare
Ikram, Mohammad A
Rundek, Tatjana
Worrall, Bradford B
Lathrop, G Mark
Riaz, Moeen
Simonsick, Eleanor M
Kõrv, Janika
França, Paulo HC
Zand, Ramin
Prasad, Kameshwar
Frikke-Schmidt, Ruth
de Leeuw, Frank-Erik
Liman, Thomas
Haeusler, Karl Georg
Ruigrok, Ynte M
Heuschmann, Peter Ulrich
Longstreth, WT
Jung, Keum Ji
Bastarache, Lisa
Paré, Guillaume
Damrauer, Scott M
Chasman, Daniel I
Rotter, Jerome I
Anderson, Christopher D
Zwart, John-Anker
Niiranen, Teemu J
Fornage, Myriam
Liaw, Yung-Po
Seshadri, Sudha
Fernández-Cadenas, Israel
Walters, Robin G
Ruff, Christian T
Owolabi, Mayowa O
Huffman, Jennifer E
Milani, Lili
Kamatani, Yoichiro
Dichgans, Martin
Debette, Stephanie
Dokumenttyp: Artikel
Erscheinungsdatum: 2022
Verlag/Hrsg.: Springer Science and Business Media LLC
Schlagwörter: COMPASS Consortium / INVENT Consortium / Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group / Estonian Biobank / PRECISEQ Consortium / FinnGen Consortium / NINDS Stroke Genetics Network (SiGN) / MEGASTROKE Consortium / SIREN Consortium / China Kadoorie Biobank Collaborative Group / VA Million Veteran Program / International Stroke Genetics Consortium (ISGC) / Biobank Japan / CHARGE Consortium / GIGASTROKE Consortium
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29031641
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://www.repository.cam.ac.uk/handle/1810/342622

Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.