The Siblings With Ischemic Stroke Study (SWISS) Protocol

Jousilahti P, Rastenyte D, Tuomilehto J, Sarti C, Vartiainen E: Parental history of cardiovascular disease and risk of stroke. A prospective follow-up of 14,371 middle-aged men and women in Finland. Stroke. 1997, 28: 1361-1366. Kiely DK, Wolf PA, Cupples LA, Beiser AS, Myers RH: Familial aggregation of stroke. The Framingham Study. Stroke. 1993, 24: 1366-1371. Liao D, Myers R, Hunt S, Shahar E, Paton C, Burke G, Province M, Heiss G: Familial history of stroke and stroke risk. The Family Heart Study. Stroke. 1997, 28: 1908-1912. Brass LM, Isaacsohn JL, Merikangas KR, Robinette CD: A study of twins and stroke. Stroke. 1992, 23: 221-223. Natowicz M, Kelley RI: Mendelian etiologies of stroke. Ann Neurol. 1987, 22: 175-192. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, Cruaud C, Maciazek J, Weissenbach J, Bousser MG, et al: Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997, 350: 1511-1515. 10.1016/S0140-6736(97)08083-5. Ruchoux MM, Maurage CA: Endothelial changes in muscle and skin biopsies in patients with CADASIL. Neuropathol Appl Neurobiol. 1998, 24: 60-65. 10.1046/j.1365-2990.1998.00087.x. Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A, Toumier-Lasserve E, Bousser MG: Patterns of MRI lesions in CADASIL. Neurology. 1998, 51: 452-457. Mellies JK, Baumer T, Muller JA, Tornier-Lasserve E, Chabriat H, Knobloch O, Hackeloer HJ, Goebel HH, Wetzig L, Haller P: SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. Neurology. 1998, 50: 1715-1721. Rosendaal FR, Siscovick DS, Schwartz SM, Beverly RK, Psaty BM, Longstreth WT, Raghunathan TE, Koepsell TD, Reitsma PH: Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood. 1997, 89: 2817-2821. Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL: A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood. 1997, 90: 1747-1750. Longstreth WT, Rosendaal FR, Siscovick DS, Voss HL, Schwartz SM, Psaty BM, Raghunathan TE, Koepsell TD, Reitsma PH: Risk of stroke in young women and two prothromboti mutations: factor V Leiden and prothrombin gene variant (G20210A). Stroke. 1998, 29: 577-580. Press RD, Liu XY, Beamer N, Coull BM: Ischemic stroke in the elderly. Role of the common factor V mutation causing resistance to activated protein C. Stroke. 1996, 27: 44-48. Lalouschek W, Aull S, Series W, Zeiler K, Mannhalter C: The prothrombin G20210A mutation and factor V Leiden mutation in patients with cerebrovascular disease (letter). Blood. 1998, 92: 704-705. Catto A, Carter A, Ireland H, Bayston TA, Philippou H, Barrett J, Lane DA, Grant PJ: Factor V Leiden gene mutation and thrombin generation in relation to the development of acute stroke. Arterioscler Thromb Vasc Biol. 1995, 15: 783-785. Tatlisumak T, Syrjälä M, Lindsberg P, Palotie A, Kaste M: FV-ARG-506-GLN-mutation-associated resistance to activated protein C in ischemic stroke. J Stroke Cerebrovasc Dis. 1995, 5: 192-196. Kontula K, Ylikorkala A, Miettinen H, Vuorio A, Kauppinen-Makelin R, Hamalainen L, Palomaki H, Kaste M: Arg506Gln factor V mutation (factor V Leiden) in patients with ischaemic cerebrovascular disease and survivors of myocardial infarction. Thromb Haemost. 1995, 73: 558-560. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP: Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995, 332: 912-917. 10.1056/NEJM199504063321403. Perry IJ, Refsum H, Morris RW, Ebrahim SB, Ueland PM, Shaper AG: Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet. 1995, 346: 1395-1398. 10.1016/S0140-6736(95)92407-8. Markus HS, Ali N, Swaminathan R, Sankaralingam A, Molloy J, Powell J: A common polymorphism in the methylenetetrahydrofolate reductase gene, homocysteine, and ischemic cerebrovascular disease. Stroke. 1997, 28: 1739-1743. Carlsson LE, Greinacher A, Spitzer C, Walther R, Kessler C: Polymorphisms of the human platelet antigens HPA-1, HPA-2, HPA-3, and HPA-5 on the platelet receptors for fibrinogen (GPIIb/IIIa), von Willebrand factor (GPIb/IX), and collagen (GPIa/IIa) are not correlated with an increased risk for stroke. Stroke. 1997, 28: 1392-1395. Wagner KR, Giles WH, Johnson CJ, Ou CY, Bray PF, Goldschmidt-Clermont PJ, Croft JB, Brown VK, Stern BJ, Feeser BR, et al: Platelet glycoprotein receptor IIIa polymorphism P1A2 and ischemic stroke risk: the Stroke Prevention in Young Women Study. Stroke. 1998, 29: 581-585. Chapman J, Wang N, Treves TA, Korczyn AD, Bornstein NM: ACE, MTHFR, factor V Leiden, and APOE polymorphisms in patients with vascular and Alzheimer's dementia. Stroke. 1998, 29: 1401-1404. Margaglione M, Celentano E, Grandone E, Vecchione G, Cappucci G, Giuliani N, Colaizzo D, Panico S, Mancini FP, Di Minno G: Deletion polymorphism in the angiotensin-converting enzyme gene in patients with a history of ischemic stroke. Arterioscler Thromb Vasc Biol. 1996, 16: 304-309. Sharma P, Carter ND, Barley J, Brown MM: Molecular approach to assessing the genetic risk of cerebral infarction: deletion polymorphism in the gene encoding angiotensin 1-converting enzyme. J Hum Hypertens. 1994, 8: 645-648. Markus HS, Barley J, Lunt R, Bland JM, Jeffrey S, Carter ND, Brown MM: Angiotensin-converting enzyme gene deletion polymorphism. A new risk factor for lacunar stroke but not carotid atheroma. Stroke. 1995, 26: 1329-1333. Kuusisto J, Mykkanen L, Kervinen K, Kesaniemi YA, Laakso M: Apolipoprotein E4 phenotype is not an important risk factor for coronary heart disease or stroke in elderly subjects. Arterioscler Thromb Vasc Biol. 1995, 15: 1280-1286. Basun H, Corder EH, Guo Z, Lannfelt L, Corder LS, Manton KG, Winblad B, Viitanen M: Apolipoprotein E polymorphism and stroke in a population sample aged 75 years or more. Stroke. 1996, 27: 1310-1315. Ferrucci L, Guralnik JM, Pahor M, Harris T, Corti MC, Hyman BT, Wallace RB, Havlik RJ: Apolipoprotein E epsilon 2 allele and risk of stroke in the older population. Stroke. 1997, 28: 2410-2416. Pedro-Botet J, Senti M, Nogues X, Rubies-Prat J, Roquer J, D'Olhaberriague L, Olive J: Lipoprotein and apolipoprotein profile in men with ischemic stroke. Role of lipoprotein(a), triglyceride-rich lipoproteins, and apolipoprotein E polymorphism. Stroke. 1992, 23: 1556-1562. Couderc R, Mahieux F, Bailleul S, Fenelon G, Mary R, Fermanian J: Prevalence of apolipoprotein E phenotypes in ischemic cerebrovascular disease. A case-control study. Stroke. 1993, 24: 661-664. Coria F, Rubio I, Nunez E, Sempere AP, SantaEngarcia N, Bayon C, Cuadrado N: Apolipoprotein E variants in ischemic stroke. Stroke. 1995, 26: 2375-2376. Margaglione M, Seripa D, Gravina C, Grandone E, Vecchione G, Cappucci G, Merla G, Papa S, Postiglione A, Di Minno G, et al: Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian case-control study. Stroke. 1998, 29: 399-403. McCarron MO, Muir KW, Weir CJ, Dyker AG, Bone I, Nicoll JA, Lees KR: The apolipoprotein E epsilon4 allele and outcome in cerebrovascular disease. Stroke. 1998, 29: 1882-1887. Vauhkonen I, Niskanen L, Ryynanen M, Voutilainen R, Partanen J, Toyry J, Mercuri M, Rauramaa R, Uusitupa M: Divergent association of apolipoprotein E polymorphism with vascular disease in patients with NIDDM and control subjects. Diabet Med. 1997, 14: 748-756. 10.1002/(SICI)1096-9136(199709)14:9<748::AID-DIA469>3.3.CO;2-E. Barnett HJ, Eliasziw M, Meldrum HE: Drugs and surgery in the prevention of ischemic stroke. N Engl J Med. 1995, 332: 238-248. 10.1056/NEJM199501263320408. Schmidt H, Schmidt R, Niederkorn K, Gradert A, Schumacher M, Watzinger N, Hartung HP, Kostner GM: Paraoxonase PON1 polymorphism leu-Met54 is associated with carotid atherosclerosis: results of the Austrian Stroke Prevention Study. Stroke. 1998, 29: 2043-2048. Markus HS, Ruigrok Y, Ali N, Powell JF: Endothelial nitric oxide synthase exon 7 polymorphism, ischemic cerebrovascular disease, and carotid atheroma. Stroke. 1998, 29: 1908-1911. Chataway J, Feakes R, Coraddu F, Gray J, Deans J, Fraser M, Robertson N, Broadley S, Jones H, Clayton D, et al: The genetics of multiple sclerosis: principles, background and updated results of the United Kingdom systematic genome screen. Brain. 1998, 121: 1869-1887. 10.1093/brain/121.10.1869. Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, Pericak-Vance MA, Rimmler JB, Haynes CS, Roses AD, et al: A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex. The Multiple Sclerosis Genetics Group. Nat Genet. 1996, 13: 469-471. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice G, Anderson C, Armstrong H, Cousin K, Bell RB, Hader W, et al: A full genome search in multiple sclerosis. Nat Genet. 1996, 13: 472-476. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, Robertson N, Clayton D, Goodfellow PN, Compston A: A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet. 1996, 13: 464-468. Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, et al: A full genome scan for late-onset Alzheimer's disease. Hum Mol Genet. 1999, 8: 237-245. 10.1093/hmg/8.2.237. Pericak-Vance MA, Bass MP, Yamaoka LH, Gaskell PC, Scott WK, Terwedow HA, Menold MM, Conneally PM, Small GW, Vance JM, et al: Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA. 1997, 278: 1237-1241. 10.1001/jama.278.15.1237. Wu WS, Holmans P, Wavrant-DeVrieze F, Shears S, Kehoe P, Crook R, Booth J, Williams N, Perez-Tur J, Roehl K, et al: Genetic studies on chromosome 12 in late-onset Alzheimer disease. JAMA. 1998, 280: 619-622. 10.1001/jama.280.7.619. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SC, Jenkins SC, Palmer SM, et al: A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 1994, 371: 130-136. 10.1038/371130a0. Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, Morrison VA, Wapelhorst B, Spielman RS, Gogolin-Ewens KJ, et al: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet. 1996, 13: 161-166. The Collaborative Study on the Genetics of Asthma: A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nat Genet. 1997, 15: 389-392. Gaffney PM, Kearns GM, Shark KB, Ortmann WA, Selby SA, Malmgren ML, Rohlf KE, Ockenden TC, Messner RP, King RA, et al: A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci USA. 1998, 95: 14875-14879. 10.1073/pnas.95.25.14875. Meschia JF: Subtyping in ischemic stroke genetic research. Semin Cerebrovasc Dis Stroke. 2002, Adams HP, Bendixen BH, Kappelle LJ, Biller J, Love BB, Gordon DL, Marsh EE: Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment. Stroke. 1993, 24: 35-41. Meschia JF, Brown RD, Brott TG, Hardy J, Atkinson EJ, O'Brien PC: Feasibility of an affected sibling pair study in ischemic stroke. Results of a 2-center family history registry. Stroke. 2001, 32: 2939-2941. WHO MONICA Project Principal Investigators: The World Health Organization MONICA Project (Monitoring Trends and Determinants in Cardiovascular Disease): a major international collaboration. J Clin Epidemiol. 1988, 41: 105-114. 10.1016/0895-4356(88)90084-4. Madden KP, Karanjia PN, Adams HP, Clarke WR: Accuracy of initial stroke subtype diagnosis in the TOAST study. Trial of ORG 10172 in Acute Stroke Treatment. Neurology. 1995, 45: 1975-1979. Pickard JD, Murray GD, Illingworth R, Shaw MD, Teasdale GM, Foy PM, Humphrey PR, Lang DA, Nelson R, Richards P, et al: Effect of oral nimodipine on cerebral infarction and outcome after subarachnoid haemorrhage: British Aneurysm Nimodipine Trial. BMJ. 1989, 298: 636-642. Haley EC, Kassell NF, Torner JC: A randomized controlled trial of high-dose intravenous nicardipine in aneurysmal subarachnoid hemorrhage. A report of the Cooperative Aneurysm Study. J Neurosurg. 1993, 78: 537-547. Meschia JF, Brott TG, Chukwudelunzu FE, Hardy J, Brown RD, Meissner I, Hall LJ, Atkinson EJ, O'Brien PC: Verifying the stroke-free phenotype by structured telephone interview. Stroke. 2000, 31: 1076-1080. Jones WJ, Williams LS, Meschia JF: Validating the Questionnaire for Verifying Stroke-Free Status (QVSFS) by neurological history and examination. Stroke. 2001, 32: 2232-2236. Risch N, Claus E, Giuffra L: Linkage and mode of inheritance in complex traits. Prog Clin Biol Res. 1989, 329: 183-188. Holmans P, Clayton D: Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers. Am J Hum Genet. 1995, 57: 1221-1232. Kruglyak L, Lander ES: Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet. 1995, 57: 439-454. Risch N: Linkage strategies for genetically complex traits. I. A Multilocus models. Am J Hum Genet. 1990, 46: 222-228. Risch N: Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet. 1990, 46: 229-241. Suarez BK, Rice J, Reich T: The generalized sib pair IBD distribution: its use in the detection of linkage. Ann Hum Genet. 1978, 42: 87-94. Hauser ER, Boehnke M, Guo SW, Risch N: Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. Genet Epidemiol. 1996, 13: 117-137. 10.1002/(SICI)1098-2272(1996)13:2<117::AID-GEPI1>3.0.CO;2-5. Cox NJ, Frigge M, Nicolae DL, Concannon P, Hanis CL, Bell GI, Kong A: Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nat Genet. 1999, 21: 213-215. 10.1038/6002. The Ad Hoc Committee on Genetic Testing/Insurance Issues: Genetic testing and insurance. Am J Hum Genet. 1995, 56: 327-331. Roberts R, Ryan TJ: Task Force 3: clinical research in a molecular era and the need to expand its ethical imperatives. J Am Coll Cardiol. 1998, 31: 942-949. Foster MW, Freeman WL: Naming names in human genetic variation research (editorial). Genome Res. 1998, 8: 755-757. Merz JF, Sankar P, Taube SE, Livolsi V: Use of human tissues in research: clarifying clinician and researcher roles and information flows. J Investig Med. 1997, 45: 252-257. Davis JG: Predictive genetic tests: problems and pitfalls. Ann NY Acad Sci. 1997, 833: 42-46. Worrall BB, Chen DT, Meschia JF: Ethical and methodological issues in pedigree stroke research. Stroke. 2001, 32: 1242-1249. Rubattu S, Volpe M, Kreutz R, Ganten U, Ganten D, Lindpaintner K: Chromosomal mapping of quantitative trait loci contributing to stroke in a rat model of complex human disease. Nat Genet. 1996, 13: 429-434. Rogus JJ, Krolewski AS: Using discordant sib pairs to map loci for qualitative traits with high sibling recurrence risk. Am J Hum Genet. 1996, 59: 1376-1381. Kolominsky-Rabas PL, Weber M, Gefeller O, Neundoerfer B, Heuschmann PU: Epidemiology of ischemic stroke subtypes according to TOAST criteria: incidence, recurrence, and long-term survival in ischemic stroke subtypes: a population-based study. Stroke. 2001, 32: 2735-2740. Petty GW, Brown RD, Whisnant JP, Sicks JD, O'Fallon WM, Wiebers DO: Ischemic stroke subtypes: a population-based study of incidence and risk factors. Stroke. 1999, 30: 2513-2516. Liapis CD, Kakisis JD, Kostakis AG: Carotid stenosis: factors affecting symptomatology. Stroke. 2001, 32: 2782-2786. D'Armiento FP, Bianchi A, de Nigris F, Capuzzi DM, D'Armiento MR, Crimi G, Abete P, Palinski W, Condorelli M, Napoli C: Age-related effects on atherogenesis and scavenger enzymes of intracranial and extracranial arteries in men without classic risk factors for atherosclerosis. Stroke. 2001, 32: 2472-2480. Berger A: Private company wins rights to Icelandic gene database. BMJ. 1999, 318: 11- Annas GJ: Rules for research on human genetic variation – lessons from Iceland. N Engl J Med. 2000, 342: 1830-1833. 10.1056/NEJM200006153422412. Rubinstein HG: If I am only for myself, what am I? A communitarian look at the privacy stalemate. Am J Law Med. 1999, 25: 203-231. Kidwell CS, Liebeskind DS, Starkman S, Saver JL: Trends in acute ischemic stroke trials through the 20th century. Stroke. 2001, 32: 1349-1359. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/3/1/prepub