Genetic Determinants of Risk, Severity, and Outcome in Intracerebral Hemorrhage

被引:4
作者
Falcone, Guido J. [1 ,2 ,3 ]
Rosand, Jonathan [1 ,2 ,3 ]
机构
[1] Massachusetts Gen Hosp, Ctr Human Genet Res, 185 Cambridge St,CPZN 6810, Boston, MA 02114 USA
[2] Massachusetts Gen Hosp, Dept Neurol, Div Neurocrit Care & Emergency Neurol, Boston, MA 02114 USA
[3] Broad Inst, Dept Med & Populat Genet, Cambridge, MA USA
基金
美国国家卫生研究院;
关键词
stroke genetics; intracerebral hemorrhage; hemorrhagic stroke; genetic risk factors; CEREBRAL AMYLOID ANGIOPATHY; APOLIPOPROTEIN-E GENOTYPE; GENOME-WIDE ASSOCIATION; BLOOD-PRESSURE; MENDELIAN RANDOMIZATION; COL4A1; MUTATIONS; HERITABILITY; VARIANTS; STROKE; TRANSCRIPTION;
D O I
10.1055/s-0036-1582134
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Spontaneous, nontraumatic intracerebral hemorrhage (ICH) is the most severe manifestation of common forms of cerebral small vessel disease. Although ICH represents only 15% of all strokes, it accounts for a large proportion of stroke-related costs and mortality. Preventive and acute treatments remain limited. Because genetic variation contributes substantially to ICH, genomic analyses constitute a powerful tool to identify new biological mechanisms involved in its occurrence. Through translational research efforts, these newly identified mechanisms can become targets for innovative therapeutic interventions. Here, the authors summarize the most recent genetic discoveries for ICH. They also introduce the Platform for Accelerating Genetic Discovery for Cerebrovascular Disease, a newly created resource that aims to create a common workspace for genetic analyses that will bring together 100,000 stroke cases and suitable controls from numerous institutions in several countries.
引用
收藏
页码:298 / 305
页数:8
相关论文
共 51 条
  • [41] Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI
    Verhaaren, Benjamin F. J.
    Debette, Stephanie
    Bis, Joshua C.
    Smith, Jennifer A.
    Ikram, M. Kamran
    Adams, Hieab H.
    Beecham, Ashley H.
    Rajan, Kumar B.
    Lopez, Lorna M.
    Barral, Sandra
    van Buchem, Mark A.
    van der Grond, Jeroen
    Smith, Albert V.
    Hegenscheid, Katrin
    Aggarwal, Neelum T.
    de Andrade, Mariza
    Atkinson, Elizabeth J.
    Beekman, Marian
    Beiser, Alexa S.
    Blanton, Susan H.
    Boerwinkle, Eric
    Brickman, Adam M.
    Bryan, R. Nick
    Chauhan, Ganesh
    Chen, Christopher P. L. H.
    Chouraki, Vincent
    de Craen, Anton J. M.
    Crivello, Fabrice
    Deary, Ian J.
    Deelen, Joris
    De Jager, Philip L.
    Dufouil, Carole
    Elkind, Mitchell S. V.
    Evans, Denis A.
    Freudenberger, Paul
    Gottesman, Rebecca F.
    Gudnason, Vilmundur
    Habes, Mohamad
    Heckbert, Susan R.
    Heiss, Gerardo
    Hilal, Saima
    Hofer, Edith
    Hofman, Albert
    Ibrahim-Verbaas, Carla A.
    Knopman, David S.
    Lewis, Cora E.
    Liao, Jiemin
    Liewald, David C. M.
    Luciano, Michelle
    van der Lugt, Aad
    [J]. CIRCULATION-CARDIOVASCULAR GENETICS, 2015, 8 (02) : 398 - +
  • [42] CEREBRAL AMYLOID ANGIOPATHY - INCIDENCE AND COMPLICATIONS IN THE AGING BRAIN .2. THE DISTRIBUTION OF AMYLOID VASCULAR CHANGES
    VINTERS, HV
    GILBERT, JJ
    [J]. STROKE, 1983, 14 (06) : 924 - 934
  • [43] CEREBRAL AMYLOID ANGIOPATHY - A CRITICAL-REVIEW
    VINTERS, HV
    [J]. STROKE, 1987, 18 (02) : 311 - 324
  • [44] Heritability in the genomics era - concepts and misconceptions
    Visscher, Peter M.
    Hill, William G.
    Wray, Naomi R.
    [J]. NATURE REVIEWS GENETICS, 2008, 9 (04) : 255 - 266
  • [45] Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings
    Visscher, Peter M.
    Medland, Sarah E.
    Ferreira, Manuel A. R.
    Morley, Katherine I.
    Zhu, Gu
    Cornes, Belinda K.
    Montgomery, Grant W.
    Martin, Nicholas G.
    [J]. PLOS GENETICS, 2006, 2 (03) : 316 - 325
  • [46] Cloning and characterization of human polyamine-modulated factor-1, a transcriptional cofactor that regulates the transcription of the spermidine/spermine N1-acetyltransferase gene
    Wang, YL
    Devereux, W
    Stewart, TM
    Casero, RA
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (31) : 22095 - 22101
  • [47] Characterization of the interaction between the transcription factors human polyamine modulated factor (PMF-1) and NF-E2-related factor 2 (Nrf-2) in the transcriptional regulation of the spermidine/spermine N1-acetyltransferase (SSAT) gene
    Wang, YL
    Devereux, W
    Stewart, TM
    Casero, RA
    [J]. BIOCHEMICAL JOURNAL, 2001, 355 (01) : 45 - 49
  • [48] COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage
    Weng, Yi-Chinn
    Sonni, Akshata
    Labelle-Dumais, Cassandre
    de Leau, Michelle
    Kauffman, W. Berkeley
    Jeanne, Marion
    Biffi, Alessandro
    Greenberg, Steven M.
    Rosand, Jonathan
    Gould, Douglas B.
    [J]. ANNALS OF NEUROLOGY, 2012, 71 (04) : 470 - 477
  • [49] Genetic and environmental risk factors for intracerebral Hemorrhage - Preliminary results of a population-based study
    Woo, D
    Sauerbeck, LR
    Kissela, BM
    Khoury, JC
    Szaflarski, JP
    Gebel, J
    Shukla, R
    Pancioli, AM
    Jauch, EC
    Menon, AG
    Deka, R
    Carrozzella, JA
    Moomaw, CJ
    Fontaine, RN
    Broderick, JP
    [J]. STROKE, 2002, 33 (05) : 1190 - 1195
  • [50] Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage
    Woo, Daniel
    Falcone, Guido J.
    Devan, William J.
    Brown, W. Mark
    Biffi, Alessandro
    Howard, Timothy D.
    Anderson, Christopher D.
    Brouwers, H. Bart
    Valant, Valerie
    Battey, Thomas W. K.
    Radmanesh, Farid
    Raffeld, Miriam R.
    Baedorf-Kassis, Sylvia
    Deka, Ranjan
    Woo, Jessica G.
    Martin, Lisa J.
    Haverbusch, Mary
    Moomaw, Charles J.
    Sun, Guangyun
    Broderick, Joseph P.
    Flaherty, Matthew L.
    Martini, Sharyl R.
    Kleindorfer, Dawn O.
    Kissela, Brett
    Comeau, Mary E.
    Jagiella, Jeremiasz M.
    Schmidt, Helena
    Freudenberger, Paul
    Pichler, Alexander
    Enzinger, Christian
    Hansen, Bjorn M.
    Norrving, Bo
    Jimenez-Conde, Jordi
    Giralt-Steinhauer, Eva
    Elosua, Roberto
    Cuadrado-Godia, Elisa
    Soriano, Carolina
    Roquer, Jaume
    Kraft, Peter
    Ayres, Alison M.
    Schwab, Kristin
    McCauley, Jacob L.
    Pera, Joanna
    Urbanik, Andrzej
    Rost, Natalia S.
    Goldstein, Joshua N.
    Viswanathan, Anand
    Stoegerer, Eva-Maria
    Tirschwell, David L.
    Selim, Magdy
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (04) : 511 - 521