Genetic Risk Factors for Ischemic and Hemorrhagic Stroke

被引:102
作者
Chauhan, Ganesh [1 ,2 ,3 ]
Debette, Stephanie [1 ,2 ,4 ]
机构
[1] Bordeaux Populat Hlth Res Ctr, INSERM, U1219, 146 Rue Leo Saignat, F-33000 Bordeaux, France
[2] Univ Bordeaux, Bordeaux, France
[3] Indian Inst Sci, Ctr Brain Res, Bangalore, Karnataka, India
[4] Bordeaux Univ Hosp, Dept Neurol, Bordeaux, France
基金
欧盟地平线“2020”;
关键词
Stroke; Ischemic stroke; Hemorrhagic stroke; Genome-wide association studies; Multifactorial; GENOME-WIDE ASSOCIATION; EHLERS-DANLOS-SYNDROME; RETINAL ARTERIOLAR TORTUOSITY; SMALL VESSEL DISEASE; SUSCEPTIBILITY LOCI; CEREBRAL-HEMORRHAGE; ATRIAL-FIBRILLATION; LACTIC-ACIDOSIS; AMYLOID ANGIOPATHY; COL4A1; MUTATIONS;
D O I
10.1007/s11886-016-0804-z
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Understanding the genetic risk factors for stroke is an essential step to decipher the underlying mechanisms, facilitate the identification of novel therapeutic targets, and optimize the design of prevention strategies. A very small proportion of strokes are attributable to monogenic conditions, the vast majority being multifactorial, with multiple genetic and environmental risk factors of small effect size. Genome-wide association studies and large international consortia have been instrumental in finding genetic risk factors for stroke. While initial studies identified risk loci for specific stroke subtypes, more recent studies also revealed loci associated with all stroke and all ischemic stroke. Risk loci for ischemic stroke and its subtypes have been implicated in atrial fibrillation (PITX2 and ZFHX3), coronary artery disease (ABO, chr9p21, HDAC9, and ALDH2), blood pressure (ALDH2 and HDAC9), pericyte and smooth muscle cell development (FOXF2), coagulation (HABP2), carotid plaque formation (MMP12), and neuro-inflammation (TSPAN2). For hemorrhagic stroke, two loci (APOE and PMF1) have been identified.
引用
收藏
页数:11
相关论文
共 117 条
[1]   Genome-wide meta-analysis identifies new susceptibility loci for migraine [J].
Anttila, Verneri ;
Winsvold, Bendik S. ;
Gormley, Padhraig ;
Kurth, Tobias ;
Bettella, Francesco ;
McMahon, George ;
Kallela, Mikko ;
Malik, Rainer ;
de Vries, Boukje ;
Terwindt, Gisela ;
Medland, Sarah E. ;
Todt, Unda ;
McArdle, Wendy L. ;
Quaye, Lydia ;
Koiranen, Markku ;
Ikram, M. Arfan ;
Lehtimaki, Terho ;
Stam, Anine H. ;
Ligthart, Lannie ;
Wedenoja, Juho ;
Dunham, Ian ;
Neale, Benjamin M. ;
Palta, Priit ;
Hamalainen, Eija ;
Schuerks, Markus ;
Rose, Lynda M. ;
Buring, Julie E. ;
Ridker, Paul M. ;
Steinberg, Stacy ;
Stefansson, Hreinn ;
Jakobsson, Finnbogi ;
Lawlor, Debbie A. ;
Evans, David M. ;
Ring, Susan M. ;
Farkkila, Markus ;
Artto, Ville ;
Kaunisto, Mari A. ;
Freilinger, Tobias ;
Schoenen, Jean ;
Frants, Rune R. ;
Pelzer, Nadine ;
Weller, Claudia M. ;
Zielman, Ronald ;
Heath, Andrew C. ;
Madden, Pamela A. F. ;
Montgomery, Grant W. ;
Martin, Nicholas G. ;
Borck, Guntram ;
Goebel, Hartmut ;
Heinze, Axel .
NATURE GENETICS, 2013, 45 (08) :912-U255
[2]   Deficiency of the Stroke Relevant HDAC9 Gene Attenuates Atherosclerosis in Accord With Allele-Specific Effects at 7p21.1 [J].
Azghandi, Sepiede ;
Prell, Caroline ;
van der Laan, Sander W. ;
Schneider, Manuela ;
Malik, Rainer ;
Berer, Kerstin ;
Gerdes, Norbert ;
Pasterkamp, Gerard ;
Weber, Christian ;
Haffner, Christof ;
Dichgans, Martin .
STROKE, 2015, 46 (01) :197-+
[3]   Genetic liability in stroke - A long-term follow-up study of Danish twins [J].
Bak, S ;
Gaist, D ;
Sindrup, SH ;
Skytthe, A ;
Christensen, K .
STROKE, 2002, 33 (03) :769-774
[4]   Recommendations From the International Stroke Genetics Consortium, Part 2 Biological Sample Collection and Storage [J].
Battey, Thomas W. K. ;
Valant, Valerie ;
Kassis, Sylvia Baedorf ;
Kourkoulis, Christina ;
Lee, Chaeyoung ;
Anderson, Christopher D. ;
Falcone, Guido J. ;
Jimenez-Conde, Jordi ;
Fernandez-Cadenas, Israel ;
Pare, Guillaume ;
Rundek, Tatjana ;
James, Michael L. ;
Lemmens, Robin ;
Lee, Tsong-Hai ;
Tatlisumak, Turgut ;
Kittner, Steven J. ;
Lindgren, Arne ;
Mateen, Farrah J. ;
Berkowitz, Aaron L. ;
Holliday, Elizabeth G. ;
Majersik, Jennifer ;
Maguire, Jane ;
Sudlow, Cathie ;
Rosand, Jonathan .
STROKE, 2015, 46 (01) :285-+
[5]   Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries [J].
Beaudoin, Melissa ;
Gupta, Rajat M. ;
Won, Hong-Hee ;
Lo, Ken Sin ;
Do, Ron ;
Henderson, Christopher A. ;
Lavoie-St-Amour, Claire ;
Langlois, Simon ;
Rivas, Daniel ;
Lehoux, Stephanie ;
Kathiresan, Sekar ;
Tardif, Jean-Claude ;
Musunuru, Kiran ;
Lettre, Guillaume .
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2015, 35 (06) :1472-1479
[6]  
Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO
[7]  
2-O
[8]   Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke [J].
Bellenguez, Celine ;
Bevan, Steve ;
Gschwendtner, Andreas ;
Spencer, Chris C. A. ;
Burgess, Annette I. ;
Pirinen, Matti ;
Jackson, Caroline A. ;
Traylor, Matthew ;
Strange, Amy ;
Su, Zhan ;
Band, Gavin ;
Syme, Paul D. ;
Malik, Rainer ;
Pera, Joanna ;
Norrving, Bo ;
Lemmens, Robin ;
Freeman, Colin ;
Schanz, Renata ;
James, Tom ;
Poole, Deborah ;
Murphy, Lee ;
Segal, Helen ;
Cortellini, Lynelle ;
Cheng, Yu-Ching ;
Woo, Daniel ;
Nalls, Michael A. ;
Mueller-Myhsok, Bertram ;
Meisinger, Christa ;
Seedorf, Udo ;
Ross-Adams, Helen ;
Boonen, Steven ;
Wloch-Kopec, Dorota ;
Valant, Valerie ;
Slark, Julia ;
Furie, Karen ;
Delavaran, Hossein ;
Langford, Cordelia ;
Deloukas, Panos ;
Edkins, Sarah ;
Hunt, Sarah ;
Gray, Emma ;
Dronov, Serge ;
Peltonen, Leena ;
Gretarsdottir, Solveig ;
Thorleifsson, Gudmar ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari ;
Boncoraglio, Giorgio B. ;
Parati, Eugenio A. ;
Attia, John .
NATURE GENETICS, 2012, 44 (03) :328-U141
[9]   Genetic Heritability of Ischemic Stroke and the Contribution of Previously Reported Candidate Gene and Genomewide Associations [J].
Bevan, Steve ;
Traylor, Matthew ;
Adih-Samii, Poneh ;
Malik, Rainer ;
Paul, Nicola L. M. ;
Jackson, Caroline ;
Farrall, Martin ;
Rothwell, Peter M. ;
Sudlow, Cathie ;
Dichgans, Martin ;
Markus, Hugh S. .
STROKE, 2012, 43 (12) :3161-+
[10]   APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study [J].
Biffi, Alessandro ;
Anderson, Christopher D. ;
Jagiella, Jeremiasz M. ;
Schmidt, Helena ;
Kissela, Brett ;
Hansen, Bjorn M. ;
Jimenez-Conde, Jordi ;
Pires, Caroline R. ;
Ayres, Alison M. ;
Schwab, Kristin ;
Cortellini, Lynelle ;
Pera, Joanna ;
Urbanik, Andrzej ;
Romero, Javier M. ;
Rost, Natalia S. ;
Goldstein, Joshua N. ;
Viswanathan, Anand ;
Pichler, Alexander ;
Enzinger, Christian ;
Rabionet, Raquel ;
Norrving, Bo ;
Tirschwell, David L. ;
Selim, Magdy ;
Brown, Devin L. ;
Silliman, Scott L. ;
Worrall, Bradford B. ;
Meschia, James F. ;
Kidwell, Chelsea S. ;
Broderick, Joseph P. ;
Greenberg, Steven M. ;
Roquer, Jaume ;
Lindgren, Arne ;
Slowik, Agnieszka ;
Schmidt, Reinhold ;
Woo, Daniel ;
Rosand, Jonathan .
LANCET NEUROLOGY, 2011, 10 (08) :702-709