A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

The Lancet Neurology - Tập 6 - Trang 414-420 - 2007
Mar Matarín1, W Mark Brown2, Sonja Scholz3, Javier Simón-Sánchez1,4, Hon-Chung Fung5,6,7, Dena Hernandez1, J Raphael Gibbs8,3, Fabienne Wavrant De Vrieze5, Cynthia Crews5, Angela Britton1, Carl D Langefeld2, Thomas G Brott9, Robert D Brown10, Bradford B Worrall11, Michael Frankel12, Scott Silliman13, L Douglas Case2, Andrew Singleton1, John A Hardy5,3, Stephen S Rich2
1Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
2Division of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, USA
3Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK
4Unitat de Genética Molecular, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia-CSIC, Valencia, Spain
5Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
6Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei, Taiwan
7Reta Lila Weston Institute of Neurological Studies, University College London, London, UK
8Computational Biology Core, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
9Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
10Department of Neurology, Mayo Clinic, Rochester, MN, USA
11Departments of Neurology and Public Health Sciences, University of Virginia, VA, USA
12Department of Neurology, Emory University School of Medicine, GA, USA
13Department of Neurology, University of Florida College of Medicine, Jacksonville, FL, USA

Tài liệu tham khảo

Bonita, 1992, Epidemiology of stroke, Lancet, 339, 342, 10.1016/0140-6736(92)91658-U Rothwell, 2004, Change in stroke incidence, mortality, case-fatality, severity, and risk factors in Oxfordshire, UK from 1981 to 2004 (Oxford Vascular Study), Lancet, 363, 1925, 10.1016/S0140-6736(04)16405-2 Brown, 1996, Stroke incidence, prevalence, and survival: secular trends in Rochester, Minnesota, through 1989, Stroke, 27, 373 Hassan, 2000, Genetics and ischaemic stroke, Brain, 123, 1784, 10.1093/brain/123.9.1784 Joutel, 1996, Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia, Nature, 383, 707, 10.1038/383707a0 Tournier-Lasserve, 2002, New players in the genetics of stroke, N Engl J Med, 347, 1711, 10.1056/NEJMcibr022035 Helgadottir, 2004, The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke, Nat Genet, 36, 233, 10.1038/ng1311 Gretarsdottir, 2003, The gene encoding phosphodiesterase 4D confers risk of ischaemic stroke, Nat Genet, 35, 131, 10.1038/ng1245 Gershon, 1986, Clinical methods in psychiatric genetics. I. Robustness of genetic marker investigative strategies, Acta Psychiatr Scand, 74, 113, 10.1111/j.1600-0447.1986.tb10594.x Risch, 1996, The future of genetic studies of complex human diseases, Science, 273, 1516, 10.1126/science.273.5281.1516 Casas, 2004, Meta-analysis of genetic studies in ischaemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls, Arch Neurol, 61, 1652, 10.1001/archneur.61.11.1652 2003, The International HapMap Project, Nature, 426, 789, 10.1038/nature02168 2005, A haplotype map of the human genome, Nature, 437, 1299, 10.1038/nature04226 Maraganore, 2005, High-resolution whole-genome association study of Parkinson disease, Am J Hum Genet, 77, 685, 10.1086/496902 Klein, 2005, Complement factor H polymorphism in age-related macular degeneration, Science, 308, 385, 10.1126/science.1109557 Fung, 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data, Lancet Neurol, 5, 911, 10.1016/S1474-4422(06)70578-6 Ozaki, 2002, Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction, Nat Genet, 32, 650, 10.1038/ng1047 Duerr, 2006, A genome-wide association study identifies IL23R as an inflammatory bowel disease gene, Science, 314, 1461, 10.1126/science.1135245 Folstein, 1975, Mini-mental state: a practical method for grading the cognitive state of patients for the clinician, J Psychiatr Res, 12, 189, 10.1016/0022-3956(75)90026-6 Meschia, 2003, The Ischaemic Stroke Genetics Study (ISGS) Protocol, BMC Neurol, 3, 4, 10.1186/1471-2377-3-4 1998, The World Health Organization MONICA Project (monitoring trends and determinants in cardiovascular disease): a major international collaboration, J Clin Epidemiol, 41, 105 Adams, 1993, Classification of subtype of acute ischaemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment, Stroke, 24, 35, 10.1161/01.STR.24.1.35 Bamford, 1991, Classification and natural history of clinically identifiable subtypes of cerebral infarction, Lancet, 337, 1521, 10.1016/0140-6736(91)93206-O Johnson, 1995, Interrater reliability of an etiologic classification of ischemic stroke, Stroke, 26, 46, 10.1161/01.STR.26.1.46 Lyden, 1994, Improved reliability of the NIH Stroke Scale using video training. NINDS TPA Stroke Study Group, Stroke, 25, 2220, 10.1161/01.STR.25.11.2220 Collin, 1988, The Barthel ADL Index: a reliability study, Int Disabil Stud, 10, 61, 10.3109/09638288809164103 Bamford, 1989, Interobserver agreement for the assessment of handicap in stroke patients, Stroke, 30, 828, 10.1161/01.STR.20.6.828 Jennett, 1975, Assessment of outcome after severe brain damage, Lancet, 305, 480, 10.1016/S0140-6736(75)92830-5 Miller, 1972, Epstein-Barr virus: transformation, cytopathic changes, and viral antigens in squirrel monkey and marmoset leukocytes, Proc Natl Acad Sci USA, 69, 383, 10.1073/pnas.69.2.383 Tumilowicz, 1984, Presence of retrovirus in the B95-8 Epstein-Barr virus-producing cell line from different sources, In Vitro, 20, 486, 10.1007/BF02619622 Miller, 1988, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res, 16, 1215, 10.1093/nar/16.3.1215 Simon-Sanchez, 2007, Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals, Hum Mol Genet, 16, 1, 10.1093/hmg/ddl436 Falush, 2003, Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies, Genetics, 164, 1567, 10.1093/genetics/164.4.1567 Wigginton, 2005, A note on exact tests of Hardy-Weinberg equilibrium, Am J Hum Genet, 76, 887, 10.1086/429864 Zeger, 1986, Longitudinal data analysis for discrete and continuous outcomes, Biometrics, 42, 121, 10.2307/2531248 White, 2005, Ischaemic stroke subtype incidence among whites, blacks, and Hispanics: the Northern Manhattan Study, Circulation, 111, 1327, 10.1161/01.CIR.0000157736.19739.D0 Casas, 2004, Arch Neurol, 61, 1652, 10.1001/archneur.61.11.1652 Holmqvist, 2002, Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain, Proc Natl Acad Sci USA, 99, 1035, 10.1073/pnas.022509299 Pruunsild, 2005, Structure, alternative splicing, and expression of the human and mouse KCNIP gene family, Genomics, 86, 581, 10.1016/j.ygeno.2005.07.001 Morohashi, 2002, Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4, J Biol Chem, 277, 14965, 10.1074/jbc.M200897200 Decher, 2001, Characterization of TASK-4, a novel member of the pH-sensitive, two-pore domain potassium channel family, FEBS Lett, 492, 84, 10.1016/S0014-5793(01)02222-0 Lesage, 1996, Dimerization of TWIK-1 K+ channel subunits via a disulfide bridge, Embo J, 15, 6400, 10.1002/j.1460-2075.1996.tb01031.x Kim, 2000, TASK-3, a new member of the tandem pore K(+) channel family, J Biol Chem, 275, 9340, 10.1074/jbc.275.13.9340 Hsieh, 2000, Striated muscle preferentially expressed genes alpha and beta are two serine/threonine protein kinases derived from the same gene as the aortic preferentially expressed gene-1, J Biol Chem, 275, 36966, 10.1074/jbc.M006028200 Skol, 2006, Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies, Nat Genet, 38, 209, 10.1038/ng1706 Coon, 2007, A high-density whole-genome association study reveals that apoe is the major susceptibility gene for sporadic late-onset Alzheimer's disease, J Clin Psychiatry, 10.4088/JCP.v68n0419