Potential confounding by intermediate phenotypes in studies of the genetics of ischaemic stroke

Cerebrovascular Diseases

Volumn 19, Issue 1, 2005, Pages 1-10

  Flossmann, Enrico ^a   Schulz, Ursula G R ^a   Rothwell, Peter M ^a  

^a RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

Diabetes mellitus; Hypertension; Ischaemic heart disease; Ischaemic stroke

Indexed keywords

ADOLESCENT; ADULT; AGED; ATHEROSCLEROSIS; BIBLIOGRAPHIC DATABASE; BLOOD VESSEL; CALCULATION; CASE CONTROL STUDY; CEREBROVASCULAR ACCIDENT; COHORT ANALYSIS; CONTROLLED STUDY; DIABETES MELLITUS; FAMILY HISTORY; FREQUENCY ANALYSIS; GENETICS; HAND; HEALTH HAZARD; HUMAN; HYPERTENSION; ISCHEMIC HEART DISEASE; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PUBLISHING; REVIEW; RISK FACTOR; SCIENTIFIC LITERATURE; SYSTEMATIC REVIEW;

BRAIN ISCHEMIA; CEREBROVASCULAR ACCIDENT; HUMANS; PHENOTYPE; PREVALENCE; RISK FACTORS;

EID: 11444269309     PISSN: 10159770     EISSN: None     Source Type: Journal    
DOI: 10.1159/000081905     Document Type: Review

References (80)

1. Huang Z, Huang PL, Panahian N, Dalkara T, Fishman MC, Moskowitz MA: Effects of cerebral ischemia in mice deficient in neuronal nitric oxide synthase. Science 1994;265:1883-1885.
2. Hassan A, Markus HS: Genetics and ischaemic stroke. Brain 2000;123:1784-1812.
3. Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG: Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 1991;22:1297-1302.
4. Brass LM, Alberts MJ: The genetics of cerebrovascular disease. Baillieres Clin Neurol 1995;4:221-245.
5. Hademenos GJ, Alberts MJ, Awad I, Mayberg M, Shepard T, Jagoda A, Latchaw RE, Todd HW, Viste K, Starke R, Girgus MS, Marler J, Emr M, Hart N: Advances in the genetics of cerebrovascular disease and stroke. Neurology 2001;56:997-1008.
6. Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A, Jonsdottir S, Jonsdottir T, Gudmundsdottir T, Bjarnadottir SM, Einarsson OB, Gudjonsdottir HM, Hawkins M, Gudmundsson G, Gudmundsdottir H, Andrason H, Gudmundsdottir AS, Sigurdardottir M, Chou TT, Nahmias J, Goss S, Sveinbjörnsdottir S, Valdimarsson EM, Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J, Gurney M, Gudbjartsson D, Frigge ML, Kong A, Stefansson K, Gulcher JR: The gene encoding phophodiesterase 4D confers risk of ischemic stroke. Nat Genet 2003;35:131-138.
7. Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani NJ, Gudmundsson G, Grant SFA, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Johannsson H, Gudmundsdottir O, Gurney ME, Sainz J, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, Gudnason V, Hakonarson H, Gulcher JR, Stefansson K: The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet 2004;36:233-239.
8. Fox CS, Polak JF, Chazaro I, Cupples A, Wolf PA, d'Agostino RA, O'Donnell CJ: Genetic and environmental contributions to atherosclerosis phenotypes in men and women: Heritability of carotid intima-media thickness in the Framingham Heart Study. Stroke 2003;34:397-401.
9. Li MD, Cheng R, Ma JZ, Swan GE: A metaanalysis of estimated genetic and environmental effects on smoking behavior in male and female adult twins. Addiction 2003;98:23-31.
10. Snieder H, van Doornen LJ, Boomsma DI: Dissecting the genetic architecture of lipids, lipoproteins, and apolipoproteins: Lessons from twin studies. Arterioscler Thromb Vasc Biol 1999;19:2826-2834.
11. Poulsen P, Vaag A, Kyvik K, Beck-Nielsen H: Genetic versus environmental aetiology of the metabolic syndrome among male and female twins. Diabetologia 2001;44:537-543.
12. Williams RR, Hunt SC, Hopkins PN, Wu LL, Hasstedt SJ, Berry TD, Barlow GK, Stults BM, Schumacher MC, Ludwig EH: Genetic basis of familial dyslipidemia and hypertension: 15-year results from Utah. Am J Hypertens 1993;6:S319-S327.
13. Medici F, Hawa M, Ianari A, Pyke DA, Leslie RD: Concordance rate for type II diabetes mellitus in monozygotic twins: Actuarial analysis. Diabetologia 1999;42:146-150.
14. Poulsen P, Kyvik KO, Vaag A, Beck-Nielsen H: Heritability of type II (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance - A population-based twin study. Diabetologia 1999;42:139-145.
15. McIlhany ML, Shaffer JW, Hines EA: The heritability of blood pressure: An investigation of 200 pairs of twins using the cold pressor test. Johns Hopkins Med J 1975;136:57-64.
16. Feinleib M, Garrison RJ, Fabsitz R, Christian JC, Hrubec Z, Borhani NO, Kannel WB, Rosenman R, Schwartz JT, Wagner JO: The NHLBI twin study of cardiovascular disease risk factors: Methodology and summary of results. Am J Epidemiol 1977;106:284-285.
17. Warlow CP, Dennis MS, van Gijn J, Hankey GJ, Sandercock PAG, Bamford JM, Wardlaw JM: Stroke: A Practical Guide to Management, ed 2. Oxford, Blackwell Science, 2001, pp 223-300.
18. Dennis MS, Bamford JM, Sandercock PAG, Warlow CP: A comparison of risk factors and prognosis for transient ischemic attacks and minor ischemic strokes: The Oxfordshire Community Stroke Project. Stroke 1989;20:1494-1499.
19. Coull AJ, Lovett JK, Rothwell PM: Population based study of early risk of stroke after transient ischaemic attack or minor stroke: Implications for public education and organisation of services. BMJ 2004;328:326.
20. Flossmann E, Schulz UGR, Rothwell PM: A systematic review of the methods, analysis and results of studies of the genetic epidemiology of ischaemic stroke. Stroke 2004;35:212-227.
21. Egger M, Smith GD, Schneider M, Minder C: Bias in meta-analysis detected by a simple graphical test. BMJ 1997;315:629-634.
22. 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.
23. Schulz UGR, Flossmann E, Rothwell PM: Hereditability of ischaemic stroke in relation to age, vascular risk factors and subtypes of incident stroke in population-based studies. Stroke 2004;35:819-825.
24. Brass LM, Shaker LA: Family history in patients with transient ischemic attacks. Stroke 1991;22:837-841.
25. Menotti A, Giampaoli S: A single risk factor measurement predicts 35-year mortality from cardiovascular disease. G Ital Cardiol 1998;28:1354-1362.
26. Wannamethee SG, Shaper AG, Ebrahim S: History of parental death from stroke or heart trouble and the risk of stroke in middle-aged men. Stroke 1996;27:1492-1498.
27. Sesso HD, Lee I-M, Gaziano JM, Rexrode KM, Glynn RJ, Buring JE: Maternal and paternal history of myocardial infarction and risk of cardiovascular disease in men and women. Circulation 2001;104:393-398.
28. Shaper AG, Philips AN, Pocock SJ, et al: Risk factors for stroke in middle-aged British men. Br Med J 1991;302:1111-1115.
29. Simons LA, McCallum J, Friedlander Y, Simons J: Risk factors for ischemic stroke. Dubbo Study of the Elderly. Stroke 1998;29:1341-1346.
30. Jerrard-Dunne P, Cloud G, Hassan A, Markus HS: Evaluating the genetic component of ischemic stroke subtypes: A family history study. Stroke 2003;34:1364-1369.
31. Peng DQ, Zhao SP, Wang JL: Lipoprotein (a) and apolipoprotein E epsilon 4 as independent risk factors for ischemic stroke. J Cardiovasc Risk 1999;6:1-6.
32. Caicoya M, Corrales C, Rodriguez T: Family history and stroke: A community case-control study in Asturias, Spain. J Epidemiol Biostat 1999;4:313-320.
33. Vitullo F, Marchioli R, di Mascio R, Cavasinni L, Pasquale AD, Tognoni G: Family history and socioeconomic factors as predictors of myocardial infarction, unstable angina and stroke in an Italian population. PROGETTO 3A Investigators. Eur J Epidemiol 1996;12:177-185.
34. Graffagnino C, Gasecki AP, Doig GS, Hachinski VC: The importance of family history in cerebrovascular disease. Stroke 1994;25:1599-1604.
35. Muñiz J, Juane R, Castro-Beiras A, Fernandez-Fuertes I, Lorenzo-Gallego S, Sanchez-Herrero J: Estudio de casos y controles de factores de riesgo de accidente cerebrovascular agudo. Med Clin (Barc) 1993;101:401-405.
36. Spriggs DA, French JM, Murdy JM, Bates D, James OF: Historical risk factors for stroke: A case control study. Age Ageing 1990;19:280-287.
37. Matias-Guiu J, Alvarez J, Insa R, Molto JM, Martin R, Codina A, Martinez-Vazquez JM: Ischemic stroke in young adults. II. Analysis of risk factors in the etiological subgroups. Acta Neurol Scand 1990;81:314-317.
38. Thompson SG, Greenberg G, Meade TW: Risk factors for stroke and myocardial infarction in women in the United Kingdom as assessed in general practice: A case-control study. Br Heart J 1989;61:403-409.
39. Hu HH, Chu FL, Chiang BN, Lan CF, Sheng WY, Lo YK, Wong WJ, Luk YO: Prevalence of stroke in Taiwan. Stroke 1989;20:858-863.
40. Alvarez J, Matias-Guiu J, Sumalla J, Molins M, Insa R, Molto JM, Martin R, Codina A, Martinez-Vazquez JM: Ischemic stroke in young adults. I. Analysis of the etiological subgroups. Acta Neurol Scand 1989;80:28-34.
41. Herman B, Schmitz PI, Leyten AC, van Luijk JH, Frenken CW, op de Coul AA, Schulte BP: Multivariate logistic analysis of risk factors for stroke in Tilburg, The Netherlands. Am J Epidemiol 1983;118:514-525.
42. Starr JM, Rush M, de Mey R, Dennis MS: Parental causes of death in stroke. Cerebrovasc Dis 2000;11:65-70.
43. Gifford AJ: An epidemiological study of cerebrovascular disease. Am J Public Health 1966;56:452-461.
44. Diaz JF, Hachinski VC, Pederson LL, Donald A: Aggregation of multiple risk factors for stroke in siblings of patients with brain infarction and transient ischemic attacks. Stroke 1986;17:1239-1242.
45. Heyden S, Heyman A, Camplong L: Mortality pattern among parents of patients with atherosclerotic cerebrovascular disease. J Chronic Dis 1969;22:105-110.
46. Alter M, Kluznik J: Genetics of cerebrovascular accidents. Stroke 1972;3:41-48.
47. Alter M: Genetic factors in cerebrovascular disease. Trans Am Neurol Assoc 1967;92:205-208.
48. Gertler MM, Rusk HA, Whiter HH, et al: Ischemic cerebrovascular disease: The assessment of risk factors. Geriatrics 1968;23:135-141.
49. Li S, Wang C, Fu Y, Cheng XM, Feng E, Wang W, Shu Q, Yang QD, Chen S, Su QG: Risk factors for stroke in rural areas of the People's Republic of China: Results of a case-control study. Neuroepidemiology 1990;9:57-67.
50. Peng D, Zhao S: Serum lipids, lipoprotein and stroke. Hunan Yi Ke Da Xue Xue Bao 1999;24:167-170.
51. Sigurdsson G, Sigfusson N, Thorsteinsson T, Olafsson O, Davidsson D, Samuelsson S: Screening for health risks: How useful is a questionnaire response showing positive family history of myocardial infarction, hypertension or cerebral stroke? Acta Med Scand 1983;213:45-50.
52. Lansbury AJ, Grant PJ, Catto AJ: Atherothrombotic risk factors in subjects with a family history of stroke. Cerebrovasc Dis 2002;14:153-160.
53. Postorino G, Altavilla R, Turchetti V, Leonicini F, Picciolini F, de Matteis D, Guerrini M, Forconi S: Lp(a) e quadro lipidico in un gruppo di studenti liceali selezionati in base all'anamnesi familiare. Minerva Med 1994;85:625-631.
54. Blonde CV, Webber LS, Foster TA, Berenson GS: Parental history and cardiovascular disease risk factor variables in children. Prev Med 1981;10:25-37.
55. Bao W, Srinivasan SR, Wattigney WA, Berenson GS: The relation of parental cardiovascular disease to risk factors in children. The Bogalusa Heart Study. Circulation 1995;91:365-371.
56. Shear CL, Webber LS, Freedman DS, Srinivasan SR, Berenson GS: The relationship between parental history of vascular disease and cardiovascular disease risk factors in children: The Bogalusa Heart Study. Am J Epidemiol 1985;122:762-771.
57. Woo J, Lam CWK: Association of serum lipoprotein(a) concentration with other cardiovascular risk factors in a Chinese population. J Clin Lab Analysis 1991;5:335-339.
58. van der Sande MAB, Walraven GEL, Milligan PJM, Banya WAS, Ceesay SM, Nyan OA, McAdam KPWJ: Family history: An opportunity for early interventions and improved control of hypertension, obesity and diabetes. Bull WHO 2001;79:321-328.
59. Choe YH, Choi Y, Kim JQ: Lipoprotein(a) in Korean children and a history of coronary or cerebral vascular events in their older family members. Ann Clin Biochem 1997;34:179-184.
60. Maeda Y, Ikeda U, Ebata H, Hojo Y, Nakagami H, Shimada K: Diurnal blood pressure rhythm in hypertensives with parental history of stroke. Am J Hypertens 1997;10:562-564.
61. Burke GL, Savage PJ, Sprafka M, Selby JV, Jacobs DR, Perkins LL, Roseman JM, Hughes GH, Fabsitz RR: Relation of risk factor levels in young adulthood to parental history of disease - The Cardia Study. Circulation 1991;84:1176-1187.
62. Franzblau A, Criqui MH: Characteristics of persons with marked hypocholesterolemia: A population-based study. J Chronic Dis 1984;37:387-395.
63. Laskarzewski P, Morrison JA, Horvitz R, Khoury P, Kelly K, Mellies M, Glueck CJ: The relationship of parental history of myocardial infarction, hypertension, diabetes and stroke to coronary heart disease risk factors in their adult progeny. Am J Epidemiol 1981;113:290-306.
64. Morrison JA, Horvit R, Khoury P, Laskarzewski P, Gartside PS, Kelly K, Mellies M, Glueck CJ: Parental history of coronary heart disease, hypertension, diabetes, and stroke: Relationship to coronary heart disease risk factor variables in their adult children. Prev Med 1980;9:773-786.
65. Williams RR, Hunt SC, Heiss G, Province MA, Bensen JT, Higgins M, Chamberlain RM, Ware J, Hopkins PN: Usefulness of cardiovascular family history data for population-based preventive medicine and medical research (The Health Family Tree Study and the NHLBI Family Heart Study). Am J Cardiol 2001;87:129-135.
66. Feinberg WM, Albers GW, Barnett HJM, Biller J, Caplan LR, Carter LP, Hart RG, Hobson RW, Kronmal RA, Moore WS, Robertson JT, Adams, HP, Mayberg M: Guidelines for the Management of Transient Ischemic Attacks. Stroke 1994;25:1320-1335.
67. Tentschert S, Greisenegger S, Wimmer R, Lang W, Lalouschek W: Association of parental history of stroke with clinical parameters in patients with ischemic stroke or transient ischemic attack. Stroke 2003;34:2114-2119.
68. Nicolaou M, de Stefano AL, Gavras I, Cupples LA, Manolis AJ, Baldwin CT, Gavras H, Farrer LA: Genetic predisposition to stroke in relatives of hypertensives. Stroke 2000;31:487-492.
69. Lestro-Henriques I, Bogousslavsky J, van Melle G: Predictors of stroke pattern in hypertensive patients. J Neurol Sci 1996;144:142-146.
70. 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.
71. Abu-Zeid HAH, Choi NW, Maini KK, Hsu PH, Nelson NA: Relative role of factors associated with cerebral infarction and cerebral hemorrhage: A matched pair case-control study. Stroke 1977;8:106-112.
72. Polychronopoulos P, Gioldasis G, Ellul J, Metallinos IC, Lekka NP, Paschalis C, Papapetropoulos T: Family history of stroke in stroke types and subtypes. J Neurol Sci 2002;195:117-122.
73. Khaw KT, Barrett-Connor E: Family history of stroke as an independent predictor of ischemic heart disease in men and stroke in women. Am J Epidemiol 1986;123:59-66.
74. 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.
75. Welin L, Svardsudd K, Wilhelmsen L, Larsson B, Tibblin G: Analysis of risk factors for stroke in a cohort of men born in 1913. N Engl J Med 1987;317:521-526.
76. Schulz UGR, Rothwell PM: Differences in vascular risk factors between etiological subtypes of ischemic stroke. Stroke 2003;34:2050-2059.
77. Spolveri S, Baruffi MC, Cappelletti C, Semerano F, Rossi S, Pracucci G, Inzitari D: Vascular risk factors linked to multiple lacunar infarcts. Cerebrovasc Dis 1998;8:152-157.
78. Magnus P: Genetic epidemiology: Possibilities and problems. Scand J Soc Med 1992;20:193-195.
79. Silberberg J, Fryer J, Wlodarczyk J, Robertson R, Dear K: Comparison of family history measures used to identify high risk of coronary heart disease. Genet Epidemiol 1999;16:344-355.
80. Schulz KF, Grimes DA: Case-control studies: Research in reverse. Lancet 2002;359:431-434.