Genetic Risk Factors for Ischemic and Hemorrhagic Stroke

被引:103
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
[41]   Risk Variants for Atrial Fibrillation on Chromosome 4q25 Associate with Ischemic Stroke [J].
Gretarsdottir, Solveig ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Sryrkarsdottir, Unnur ;
Helgadottir, Anna ;
Gschwendtner, Andreas ;
Kostulas, Konstantinos ;
Kuhlenbaeumer, Gregor ;
Bevan, Steve ;
Jonsdottir, Thorbjorg ;
Bjarnason, Hjordis ;
Saemundsdottir, Jona ;
Palsson, Stefan ;
Arnar, David O. ;
Holm, Hilma ;
Thorgeirsson, Gudmundur ;
Valdimarsson, Einar Mar ;
Sveinbjoernsdottir, Sigurlaug ;
Gieger, Christian ;
Berger, Klaus ;
Wichmann, H-Erich ;
Hillert, Jan ;
Markus, Hugh ;
Gulcher, Jeffrey Robert ;
Ringelstein, E. Bernd ;
Kong, Augustine ;
Dichgans, Martin ;
Gudbjartsson, Daniel Fannar ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
ANNALS OF NEUROLOGY, 2008, 64 (04) :402-409
[42]   Sequence Variants on Chromosome 9p21.3 Confer Risk for Atherosclerotic Stroke [J].
Gschwendtner, Andreas ;
Bevan, Steve ;
Cole, John W. ;
Plourde, Anna ;
Matarin, Mar ;
Ross-Adams, Helen ;
Meitinger, Thomas ;
Wichmann, Erich ;
Mitchell, Braxton D. ;
Furie, Karen ;
Slowik, Agnieszka ;
Rich, Stephen S. ;
Syme, Paul D. ;
MacLeod, Mary J. ;
Meschia, James F. ;
Rosand, Jonathan ;
Kittner, Steve J. ;
Markus, Hugh S. ;
Mueller-Myhsok, Bertram ;
Dichgans, Martin .
ANNALS OF NEUROLOGY, 2009, 65 (05) :531-539
[43]   A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke [J].
Gudbjartsson, Daniel F. ;
Holm, Hilma ;
Gretarsdottir, Solveig ;
Thorleifsson, Gudmar ;
Walters, G. Bragi ;
Thorgeirsson, Gudmundur ;
Gulcher, Jeffrey ;
Mathiesen, Ellisiv B. ;
Njolstad, Inger ;
Nyrnes, Audhild ;
Wilsgaard, Tom ;
Hald, Erin M. ;
Hveem, Kristian ;
Stoltenberg, Camilla ;
Kucera, Gayle ;
Stubblefield, Tanya ;
Carter, Shannon ;
Roden, Dan ;
Ng, Maggie C. Y. ;
Baum, Larry ;
So, Wing Yee ;
Wong, Ka Sing ;
Chan, Juliana C. N. ;
Gieger, Christian ;
Wichmann, H-Erich ;
Gschwendtner, Andreas ;
Dichgans, Martin ;
Kuhlenbaeumer, Gregor ;
Berger, Klaus ;
Ringelstein, E. Bernd ;
Bevan, Steve ;
Markus, Hugh S. ;
Kostulas, Konstantinos ;
Hillert, Jan ;
Sveinbjornsdottir, Sigurlaug ;
Valdimarsson, Einar M. ;
Lochen, Maja-Lisa ;
Ma, Ronald C. W. ;
Darbar, Dawood ;
Kong, Augustine ;
Arnar, David O. ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
NATURE GENETICS, 2009, 41 (08) :876-878
[44]   Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease [J].
Hara, Kenju ;
Shiga, Atsushi ;
Fukutake, Toshio ;
Nozaki, Hiroaki ;
Miyashita, Akinori ;
Yokoseki, Akio ;
Kawata, Hirotoshi ;
Koyama, Akihide ;
Arima, Kunimasa ;
Takahashi, Toshiaki ;
Ikeda, Mari ;
Shiota, Hiroshi ;
Tamura, Masato ;
Shimoe, Yutaka ;
Hirayama, Mikio ;
Arisato, Takayo ;
Yanagawa, Sohei ;
Tanaka, Akira ;
Nakano, Imaharu ;
Ikeda, Shu-ichi ;
Yoshida, Yutaka ;
Yamamoto, Tadashi ;
Ikeuchi, Takeshi ;
Kuwano, Ryozo ;
Nishizawa, Masatoyo ;
Tsuji, Shoji ;
Onodera, Osamu .
NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (17) :1729-1739
[45]   Genetics and ischaemic stroke [J].
Hassan, A ;
Markus, HS .
BRAIN, 2000, 123 :1784-1812
[46]   A comprehensive review of genetic association studies [J].
Hirschhorn, JN ;
Lohmueller, K ;
Byrne, E ;
Hirschhorn, K .
GENETICS IN MEDICINE, 2002, 4 (02) :45-61
[47]   Common variants at 6p21.1 are associated with large artery atherosclerotic stroke [J].
Holliday, Elizabeth G. ;
Maguire, Jane M. ;
Evans, Tiffany-Jane ;
Koblar, Simon A. ;
Jannes, Jim ;
Sturm, Jonathan W. ;
Hankey, Graeme J. ;
Baker, Ross ;
Golledge, Jonathan ;
Parsons, Mark W. ;
Malik, Rainer ;
McEvoy, Mark ;
Biros, Erik ;
Lewis, Martin D. ;
Lincz, Lisa F. ;
Peel, Roseanne ;
Oldmeadow, Christopher ;
Smith, Wayne ;
Moscato, Pablo ;
Barlera, Simona ;
Bevan, Steve ;
Bis, Joshua C. ;
Boerwinkle, Eric ;
Boncoraglio, Giorgio B. ;
Brott, Thomas G. ;
Brown, Robert D., Jr. ;
Cheng, Yu-Ching ;
Cole, John W. ;
Cotlarciuc, Ioana ;
Devan, William J. ;
Fornage, Myriam ;
Furie, Karen L. ;
Gretarsdottir, Solveig ;
Gschwendtner, Andreas ;
Ikram, M. Arfan ;
Longstreth, W. T., Jr. ;
Meschia, James F. ;
Mitchell, Braxton D. ;
Mosley, Thomas H. ;
Nalls, Michael A. ;
Parati, Eugenio A. ;
Psaty, Bruce M. ;
Sharma, Pankaj ;
Stefansson, Kari ;
Thorleifsson, Gudmar ;
Thorsteinsdottir, Unnur ;
Traylor, Matthew ;
Verhaaren, Benjamin F. J. ;
Wiggins, Kerri L. ;
Worrall, Bradford B. .
NATURE GENETICS, 2012, 44 (10) :1147-+
[48]   Genomewide Association Studies of Stroke [J].
Ikram, M. Arfan ;
Seshadri, Sudha ;
Bis, Joshua C. ;
Fornage, Myriam ;
DeStefano, Anita L. ;
Aulchenko, Yurii S. ;
Debette, Stephanie ;
Lumley, Thomas ;
Folsom, Aaron R. ;
van den Herik, Evita G. ;
Bos, Michiel J. ;
Beiser, Alexa ;
Cushman, Mary ;
Launer, Lenore J. ;
Shahar, Eyal ;
Struchalin, Maksim ;
Du, Yangchun ;
Glazer, Nicole L. ;
Rosamond, Wayne D. ;
Rivadeneira, Fernando ;
Kelly-Hayes, Margaret ;
Lopez, Oscar L. ;
Coresh, Josef ;
Hofman, Albert ;
DeCarli, Charles ;
Heckbert, Susan R. ;
Koudstaal, Peter J. ;
Yang, Qiong ;
Smith, Nicholas L. ;
Kase, Carlos S. ;
Rice, Kenneth ;
Haritunians, Talin ;
Roks, Gerwin ;
de Kort, Paul L. M. ;
Taylor, Kent D. ;
de Lau, Lonneke M. ;
Oostra, Ben A. ;
Uitterlinden, Andre G. ;
Rotter, Jerome I. ;
Boerwinkle, Eric ;
Psaty, Bruce M. ;
Mosley, Thomas H. ;
van Duijn, Cornelia M. ;
Breteler, Monique M. B. ;
Longstreth, W. T., Jr. ;
Wolf, Philip A. .
NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (17) :1718-1728
[49]   Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) [J].
Jen, J ;
Cohen, AH ;
Yue, Q ;
Stout, JT ;
Vinters, HV ;
Nelson, S ;
Baloh, RW .
NEUROLOGY, 1997, 49 (05) :1322-1330
[50]   Global variation in stroke burden and mortality: estimates from monitoring, surveillance, and modelling [J].
Johnston, S. Claiborne ;
Mendis, Shanthi ;
Mathers, Colin D. .
LANCET NEUROLOGY, 2009, 8 (04) :345-354