Home > Publications Database > Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. > print

001     154282
005     20250414142632.0
024 7 _ |a 10.1038/s41588-020-00725-7
|2 doi
024 7 _ |a pmid:33199917
|2 pmid
024 7 _ |a pmc:PMC7116530
|2 pmc
024 7 _ |a 1061-4036
|2 ISSN
024 7 _ |a 1546-1718
|2 ISSN
024 7 _ |a altmetric:94394947
|2 altmetric
037 _ _ |a DZNE-2021-00136
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Bakker, Mark K
|0 0000-0002-7887-9014
|b 0
245 _ _ |a Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
260 _ _ |a London
|c 2020
|b Macmillan Publishers Limited, part of Springer Nature
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1744633550_21651
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
500 _ _ |a ISSN 1546-1718 not unique: **3 hits**.
520 _ _ |a Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
|0 G:(DE-HGF)POF3-344
|c POF3-344
|f POF III
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 2 |a Asian People: genetics
|2 MeSH
650 _ 2 |a Asian Continental Ancestry Group: genetics
|2 MeSH
650 _ 2 |a Blood Pressure: genetics
|2 MeSH
650 _ 2 |a Case-Control Studies
|2 MeSH
650 _ 2 |a Endothelial Cells: pathology
|2 MeSH
650 _ 2 |a European Continental Ancestry Group: genetics
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease: genetics
|2 MeSH
650 _ 2 |a Genome-Wide Association Study
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Hypertension: genetics
|2 MeSH
650 _ 2 |a Hypertension: physiopathology
|2 MeSH
650 _ 2 |a Intracranial Aneurysm: genetics
|2 MeSH
650 _ 2 |a Intracranial Aneurysm: pathology
|2 MeSH
650 _ 2 |a Polymorphism, Single Nucleotide: genetics
|2 MeSH
650 _ 2 |a Risk Factors
|2 MeSH
650 _ 2 |a Smoking: adverse effects
|2 MeSH
650 _ 2 |a Smoking: genetics
|2 MeSH
650 _ 2 |a Subarachnoid Hemorrhage: genetics
|2 MeSH
650 _ 2 |a Subarachnoid Hemorrhage: pathology
|2 MeSH
650 _ 2 |a White People: genetics
|2 MeSH
700 1 _ |a van der Spek, Rick A A
|b 1
700 1 _ |a van Rheenen, Wouter
|0 0000-0002-5860-1533
|b 2
700 1 _ |a Morel, Sandrine
|0 0000-0003-1538-3553
|b 3
700 1 _ |a Bourcier, Romain
|b 4
700 1 _ |a Hostettler, Isabel C
|0 0000-0002-9004-2540
|b 5
700 1 _ |a Alg, Varinder S
|b 6
700 1 _ |a van Eijk, Kristel R
|b 7
700 1 _ |a Koido, Masaru
|0 0000-0002-0348-0666
|b 8
700 1 _ |a Akiyama, Masato
|b 9
700 1 _ |a Terao, Chikashi
|0 0000-0002-6452-4095
|b 10
700 1 _ |a Matsuda, Koichi
|0 0000-0001-7292-2686
|b 11
700 1 _ |a Walters, Robin G
|0 0000-0002-9179-0321
|b 12
700 1 _ |a Lin, Kuang
|b 13
700 1 _ |a Li, Liming
|b 14
700 1 _ |a Millwood, Iona Y
|b 15
700 1 _ |a Chen, Zhengming
|0 0000-0001-6423-105X
|b 16
700 1 _ |a Rouleau, Guy A
|0 0000-0001-8403-1418
|b 17
700 1 _ |a Zhou, Sirui
|b 18
700 1 _ |a Rannikmäe, Kristiina
|0 0000-0002-2384-7568
|b 19
700 1 _ |a Sudlow, Cathie L M
|b 20
700 1 _ |a Houlden, Henry
|0 0000-0002-2866-7777
|b 21
700 1 _ |a van den Berg, Leonard H
|b 22
700 1 _ |a Dina, Christian
|0 0000-0002-7722-7348
|b 23
700 1 _ |a Naggara, Olivier
|b 24
700 1 _ |a Gentric, Jean-Christophe
|b 25
700 1 _ |a Shotar, Eimad
|b 26
700 1 _ |a Eugène, François
|0 0000-0001-7367-8793
|b 27
700 1 _ |a Desal, Hubert
|b 28
700 1 _ |a Winsvold, Bendik S
|0 0000-0003-4171-8919
|b 29
700 1 _ |a Børte, Sigrid
|0 0000-0001-9540-3256
|b 30
700 1 _ |a Johnsen, Marianne Bakke
|b 31
700 1 _ |a Brumpton, Ben M
|0 0000-0002-3058-1059
|b 32
700 1 _ |a Sandvei, Marie Søfteland
|0 0000-0002-8972-8254
|b 33
700 1 _ |a Willer, Cristen J
|0 0000-0001-5645-4966
|b 34
700 1 _ |a Hveem, Kristian
|b 35
700 1 _ |a Zwart, John-Anker
|0 0000-0001-5721-0154
|b 36
700 1 _ |a Verschuren, W M Monique
|b 37
700 1 _ |a Friedrich, Christoph M
|0 0000-0001-7906-0038
|b 38
700 1 _ |a Hirsch, Sven
|0 0000-0002-5678-4110
|b 39
700 1 _ |a Schilling, Sabine
|0 0000-0002-8318-9421
|b 40
700 1 _ |a Dauvillier, Jérôme
|0 0000-0002-1353-7478
|b 41
700 1 _ |a Martin, Olivier
|b 42
700 1 _ |a Stroke, HUNT All-In
|b 43
|e Collaboration Author
700 1 _ |a Group, China Kadoorie Biobank Collaborative
|b 44
|e Collaboration Author
700 1 _ |a Consortium, BioBank Japan Project
|b 45
|e Collaboration Author
700 1 _ |a Group, ICAN Study
|b 46
|e Collaboration Author
700 1 _ |a Group, CADISP
|b 47
|e Collaboration Author
700 1 _ |a Genetics
|b 48
700 1 _ |a Haemorrhage, Observational Subarachnoid
|b 49
|e Collaboration Author
700 1 _ |a Consortium, International Stroke Genetics
|b 50
|e Collaboration Author
700 1 _ |a Jones, Gregory T
|0 0000-0002-6950-4210
|b 51
700 1 _ |a Bown, Matthew J
|0 0000-0002-6180-3611
|b 52
700 1 _ |a Ko, Nerissa U
|0 0000-0002-3439-0559
|b 53
700 1 _ |a Kim, Helen
|0 0000-0002-1937-354X
|b 54
700 1 _ |a Coleman, Jonathan R I
|0 0000-0002-6759-0944
|b 55
700 1 _ |a Breen, Gerome
|b 56
700 1 _ |a Zaroff, Jonathan G
|b 57
700 1 _ |a Klijn, Catharina J M
|0 0000-0002-8495-4578
|b 58
700 1 _ |a Malik, Rainer
|b 59
700 1 _ |a Dichgans, Martin
|0 P:(DE-2719)2000030
|b 60
|u dzne
700 1 _ |a Sargurupremraj, Muralidharan
|b 61
700 1 _ |a Tatlisumak, Turgut
|b 62
700 1 _ |a Amouyel, Philippe
|0 0000-0001-9088-234X
|b 63
700 1 _ |a Debette, Stéphanie
|0 0000-0001-8675-7968
|b 64
700 1 _ |a Rinkel, Gabriel J E
|b 65
700 1 _ |a Worrall, Bradford B
|b 66
700 1 _ |a Pera, Joanna
|b 67
700 1 _ |a Slowik, Agnieszka
|b 68
700 1 _ |a Gaál-Paavola, Emília I
|b 69
700 1 _ |a Niemelä, Mika
|b 70
700 1 _ |a Jääskeläinen, Juha E
|b 71
700 1 _ |a von Und Zu Fraunberg, Mikael
|b 72
700 1 _ |a Lindgren, Antti
|0 0000-0002-1264-7667
|b 73
700 1 _ |a Broderick, Joseph P
|b 74
700 1 _ |a Werring, David J
|0 0000-0003-2074-1861
|b 75
700 1 _ |a Woo, Daniel
|b 76
700 1 _ |a Redon, Richard
|0 0000-0001-7751-2280
|b 77
700 1 _ |a Bijlenga, Philippe
|0 0000-0002-3586-2757
|b 78
700 1 _ |a Kamatani, Yoichiro
|b 79
700 1 _ |a Veldink, Jan H
|0 0000-0001-5572-9657
|b 80
700 1 _ |a Ruigrok, Ynte M
|0 0000-0002-5396-2989
|b 81
700 1 _ |a Bian, Zheng
|b 82
700 1 _ |a Chen, Junshi
|b 83
700 1 _ |a Chen, Yiping
|b 84
700 1 _ |a Clarke, Robert
|b 85
700 1 _ |a Collins, Rory
|b 86
700 1 _ |a Guo, Yu
|b 87
700 1 _ |a Han, Xiao
|b 88
700 1 _ |a Hill, Michael
|b 89
700 1 _ |a Liu, Depei
|b 90
700 1 _ |a Lv, Jun
|b 91
700 1 _ |a Millwood, Iona
|b 92
700 1 _ |a Peto, Richard
|b 93
700 1 _ |a Sansome, Sam
|b 94
700 1 _ |a Walters, Robin
|b 95
700 1 _ |a Yang, Xiaoming
|b 96
700 1 _ |a Yu, Canqing
|b 97
700 1 _ |a Bonner, Stephen
|b 98
700 1 _ |a Walsh, Daniel
|b 99
700 1 _ |a Bulters, Diederik
|b 100
700 1 _ |a Kitchen, Neil
|b 101
700 1 _ |a Brown, Martin
|b 102
700 1 _ |a Grieve, Joan
|b 103
700 1 _ |a Dichgans, Martin
|b 104
773 _ _ |a 10.1038/s41588-020-00725-7
|g Vol. 52, no. 12, p. 1303 - 1313
|0 PERI:(DE-600)1494946-5
|n 12
|p 1303 - 1313
|t Nature genetics
|v 52
|y 2020
|x 1546-1718
856 4 _ |u https://www.nature.com/articles/s41588-020-00725-7
856 4 _ |u https://pub.dzne.de/record/154282/files/DZNE-2021-00136_Restricted.pdf
856 4 _ |u https://pub.dzne.de/record/154282/files/DZNE-2021-00136_Restricted.pdf?subformat=pdfa
|x pdfa
909 C O |p VDB
|o oai:pub.dzne.de:154282
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 60
|6 P:(DE-2719)2000030
913 1 _ |a DE-HGF
|b Gesundheit
|l Erkrankungen des Nervensystems
|1 G:(DE-HGF)POF3-340
|0 G:(DE-HGF)POF3-344
|3 G:(DE-HGF)POF3
|2 G:(DE-HGF)POF3-300
|4 G:(DE-HGF)POF
|v Clinical and Health Care Research
|x 0
913 2 _ |a DE-HGF
|b Programmungebundene Forschung
|l ohne Programm
|1 G:(DE-HGF)POF4-890
|0 G:(DE-HGF)POF4-899
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-800
|4 G:(DE-HGF)POF
|v ohne Topic
|x 0
914 1 _ |y 2020
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0160
|2 StatID
|b Essential Science Indicators
|d 2021-01-28
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1190
|2 StatID
|b Biological Abstracts
|d 2021-01-28
915 _ _ |a WoS
|0 StatID:(DE-HGF)0113
|2 StatID
|b Science Citation Index Expanded
|d 2021-01-28
915 _ _ |a Nationallizenz
|0 StatID:(DE-HGF)0420
|2 StatID
|d 2022-11-09
|w ger
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b NAT GENET : 2021
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0600
|2 StatID
|b Ebsco Academic Search
|d 2022-11-09
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b ASC
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
|d 2022-11-09
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
|d 2022-11-09
915 _ _ |a IF >= 40
|0 StatID:(DE-HGF)9940
|2 StatID
|b NAT GENET : 2021
|d 2022-11-09
920 1 _ |0 I:(DE-2719)1111015
|k Clinical Research (Munich)
|l Clinical Research (Munich)
|x 0
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-2719)1111015
980 _ _ |a UNRESTRICTED

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21