Genetics of intracerebral hemorrhage: Insights from candidate gene approaches

Neurology India

Volumn 60, Issue 1, 2012, Pages 3-8

  Liu, Baoqiong ^a   Zhang, Le ^a   Yang, Qidong ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Candidate genes; intracerebral hemorrhage; polymorphism

Indexed keywords

1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ALPHA 1 ANTICHYMOTRYPSIN; APOLIPOPROTEIN A; APOLIPOPROTEIN E; BETA TUBULIN; BETA2 GLYCOPROTEIN 1; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 7; CD14 ANTIGEN; DIPEPTIDYL CARBOXYPEPTIDASE; ENDOGLIN; ESTRADIOL; ESTROGEN RECEPTOR; GLUTATHIONE PEROXIDASE 1; INTERLEUKIN 6; LIPOPROTEIN A; MATRIX METALLOPROTEINASE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OSTEOPROTEGERIN; PHOSPHOLIPID ANTIBODY; RANTES; SCLEROPROTEIN; TISSUE INHIBITOR OF METALLOPROTEINASE 2; TUMOR NECROSIS FACTOR ALPHA; UNCOUPLING PROTEIN 1;

BLOOD CLOTTING; BRAIN HEMORRHAGE; DISEASE ASSOCIATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; GENOTYPE; HEMOSTASIS; HUMAN; INFLAMMATION; LIPID METABOLISM; PREVALENCE; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW;

CEREBRAL HEMORRHAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; RISK FACTORS;

EID: 84859187227     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.93581     Document Type: Review

References (92)

1. Murray CJ, Lopez AD. Mortality by cause for eight regions of the world: Global burden of disease study. Lancet 1997;349:1269-1276.
2. Wolfe CD. The impact of stroke. Br Med Bull 2000;56:275-86.
3. Khan FA, Engstrom G, Jerntorp I, Pessah-Rasmussen H, Janzon L. Seasonal patterns of incidence and case fatality of stroke in Malmo, Sweden: The STROMA study. Neuroepidemiology 2005;24:26-31.
4. Anderson CS, Chakera TM, Stewart-Wynne EG, Jamrozik KD. Spectrum of primary intracerebral haemorrhage in Perth, Western Australia, 1989-1990: Incidence and outcome. J Neurol Neurosurg Psychiatry 1994;57:936-40.
5. Yang QD, Niu Q, Zhou YH, Liu YH, Xu HW, Gu WP, et al. Incidence of cerebral hemorrhage in the Changsha community. A prospective study from 1986 to 2000. Cerebrovasc Dis 2004;17:303-13.
6. Bak S, Gaist D, Sindrup SH, Skytthe A, Christensen K. Genetic liability in stroke: A long-term follow-up study of Danish twins. Stroke 2002;33:769-74.
7. Woo D, Sauerbeck LR, Kissela BM, Khoury JC, Szaflarski JP, Gebel J, et al. Genetic and environmental risk factors for intracerebral hemorrhage: Preliminary results of a population-based study. Stroke 2002;33:1190-6.
8. Woo D, Sauerbeck L, Khoury J, Carrozzella J, Moomaw C, Kissela B, et al. Familial aggregation of stroke and intracerebral hemorrhage. Stroke 2000;31:316.
9. Polychronopoulos P, Gioldasis G, Ellul J, Metallinos IC, Lekka NP, Paschalis C, et al. Family history of stroke in stroke types and subtypes. J Neurol Sci 2002;195:117-22.
10. Alberts MJ, McCarron MO, Hoffmann KL, Graffagnino C. Familial clustering of intracerebral hemorrhage: A prospective study in North Carolina. Neuroepidemiology 2002;21:18-21.
11. Brass LM, Isaacsohn JL, Merikangas AR. A study of twins and stroke. Stroke 1992;23:221-3.
12. Tiret L, Rigat B, Visvikis S, Breda C, Corvol P, Cambien F, et al. Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am J Hum Genet 1992;51:197-205.
13. Danser AH, Schalekamp MA, Bax WA, van den Brink AM, Saxena PR, Reigger GA, et al. Angiotensin-converting enzyme in the human heart: Effect of the deletion/insertion polymorphism. Circulation 1995;92:1387-8.
14. Sharma P. Meta-analysis of the ACE gene in ischemic stroke. J Neurol Neurosurg Psychiatry 1998;64:227-30.
15. Slowik A, Turaj W, Dziedzic T, Haefele A, Pera J, Malecki MT, et al. DD genotype of ACE gene is a risk factor for intracerebral hemorrhage. Neurology 2004;63:359-61.
16. Kalita J, Misra UK, Bindu IS, Kumar B, Mittal B. Angiotensinconverting enzyme (rs4646994) and alpha ADDUCIN (rs4961) gene polymorphisms' study in primary spontaneous intracerebral hemorrhage. Neurol India 2011;59:41-6.
17. Peck G, Smeeth L, Whittaker J, Casas JP, Hingorani A, Sharma P. The genetics of primary haemorrhagic stroke, subarachnoid haemorrhage and ruptured intracranial aneurysms in adults. PLoS One 2008;3:E3691.
18. Wei X, Wang G, Jiang C, Li D, Zhao G. Association between hypertensive cerebrovascular stroke and renin-angiotensin system gene polymorphism from Chinese cohort in Shanghai. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2000;17:256-8.
19. Nakata Y, Katsuya T, Rakugi H, Takami S, Sato N, Kamide K, et al. Polymorphism of angiotensin converting enzyme, angiotensinogen, and apolipoprotein E genes in a Japanese population with cerebrovascular disease. Am J Hypertens 1997;10:1391-5.
20. Dardiotis E, Jagiella J, Xiromerisiou G, Dardioti M, Vogiatzi C, Urbanik A, et al. Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage. Pharmacogenet Genomics 2011;21:136-41.
21. Catto A, Carter AM, Barrett JH, Stickland M, Bamford J, Davies JA, et al. Angiotensin-converting enzyme insertion/deletion polymorphism and cerebrovascular disease. Stroke 1996;27:435-40.
22. Jin Y, Morimoto S. Renin gene MboI site polymorphism is associated with cerebral bleeding in the Japanese elderly. Am J Hypertens 2001;14:56.
23. Zeng Y, Zhang L, Ma M, Zhu Y, Hu Z, Liu B, et al. Relationship between T704C polymorphism of angiotensinogen gene and cerebral hemorrhage in Han people in Changsha. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2010;35:314-20.
24. Board PG, Losowsky MS, Miloszewski KJ. Factor XIII: Inherited and acquired deficiency. Blood Rev 1993;7:229-42.
25. Kohler HP, Ariëns RA, Whitaker P, Grant PJ. A common coding polymorphism in the FXIII A-subunit gene (FXIIIVal34Leu) affects cross-linking activity. Thromb Haemost 1998;80:704.
26. Anwar R, Gallivan L, Edmonds SD, Markham AF. Genotype/phenotype correlations for coagulation factor XIII: Specific normal polymorphisms are associated with high or low factor XIII specific activity. Blood 1999;93:897-905.
27. Gemmati D, Serino ML, Ongaro A, Tognazzo S, Moratelli S, Resca R, et al. A common mutation in the gene for coagulation factor XIII-A (VAL34Leu): A risk factor for primary intracerebral hemorrhage is protective against atherothrombotic diseases. Am J Hematol 2001;67:183-8.
28. Catto AJ, Kohler HP, Bannan S, Stickland M, Carter A, Grant PJ. Factor XIII Val 34 Leu: A novel association with primary intracerebral hemorrhage. Stroke 1998;29:813-6.
29. Cho KH, Kim BC, Kim MK, Shin BA. No association of factor xiii val34 leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population. J Korean Med Sci 2002;17:249-53.
30. Slowik A, Dziedzic T, Pera J, Figlewicz DA, Szczudlik A. Coagulation factor xiii vai34 leu polymorphism in patients with small vessel disease or primary intracerebral hemorrhage. Cerebrovasc Dis 2005;19:165-70.
31. Corral J, Iniesta JA, González-Conejero R, Villalón M, Rivera J, Vicente V. Factor XIII Val34Leu polymorphism in primary intracerebral haemorrhage. Hematol J 2000;1:269-73.
32. Endler G, Funk M, Haering D, Lalouschek W, Lang W, Mirafzal M, et al. Is the factor XIII 34Val/Leu polymorphism a protective factor for cerebrovascular disease? Br J Haematol 2003;120:310-4.
33. Reiner AP, Schwartz SM, Frank MB, Longstreth WT Jr, Hindorff LA, Teramura G, et al. Polymorphisms of coagulation factor XIII subunit A and risk of nonfatal hemorrhagic stroke in young white women. Stroke 2001;32:2580-7.
34. Mariani G, Lo Coco L, Bernardi F, Pinotti M. Molecular and clinical aspects of factor VII deficiency. Blood Coagul Fibrinolysis 1998;9 Suppl 1: S83-8.
35. Corral J, Iniesta JA, González-Conejero R, Villalón M, Vicente V. Polymorphisms of clotting factors modify the risk for primary intracranial hemorrhage. Blood 2001;97:2979-82.
36. Greisenegger S, Weber M, Funk M, Endler G, Lang W, Ferrari J, et al. Polymorphisms in the coagulation factor VII gene and risk of primary intracerebral hemorrhage. Eur J Neurol 2007;14:1098-101.
37. Stafforini DM, Satoh K, At kinson DL, Tjoelker LW, Eberhardt C, Yoshida H, et al. Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an antiinflammatory phospholipase. J Clin Invest 1996;97:2784-91.
38. Hiramoto M, Yoshida H, Imaizumi T, Yoshimizu N, Satoh K. A mutation in plasma platelet-activating factor acetylhydrolase (Val279 -< Phe) isa genetic risk factor for stroke. Stroke 1997;28:2417-20.
39. Yoshida H, Imaizumi T, Fujimoto K, Itaya H, Hiramoto M, Yoshimizu N, et al. A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension. Thromb Haemost 1998;80:372-5.
40. Navarro-Núñez L, Lozano ML, Rivera J, Corral J, Roldán V, González-Conejero R, et al. The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men. Haematologica 2007;92:513-8.
41. Reiner AP, Kumar PN, Schwartz SM, Longstreth WT Jr, Pearce RM, Rosendaal FR, et al. Genetic variants of platelet glycoprotein receptors and risk of stroke in young women. Stroke 2000;31:1628-33.
42. Iniesta JA, Corral J, González-Conejero R, Piqueras C, Vicente V. Polymorphisms of platelet adhesive receptors: Do they play a role in primary intracerebral hemorrhage? Cerebrovasc Dis 2003;15:51-5.
43. Premkumar DR, Cohen DL, Hedera P, Friedland RP, Kalaria RN. Apolipoprotein E-epsilon4 alleles in cerebral amyloid angiopathy and cerebrovascular pathology associated with Alzheimer's disease. Am J Pathol 1996;148:2083-95.
44. Greenberg SM, Vonsattel JP, Segal AZ, Chiu RI, Clatworthy AE, Liao A, et al. Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy. Neurology 1998;50:961-5.
45. Greenberg SM. Cerebral amyloid angiopathy: Prospects for clinical diagnosis and treatment. Neurology 1998;51:690-4.
46. Kokubo Y, Chowdhury AH, Date C, Yokoyama T, Sobue H, Tanaka H. Age-dependent association of apolipoprotein E genotypes with stroke subtypes in a Japanese rural population. Stroke 2000;31:1299-306.
47. Alberts MJ, Graffagnino C, McClenny C, DeLong D, Strittmatter W, Saunders AM, et al. ApoE genotype and survival from intracerebral haemorrhage. Lancet 1995;346:575.
48. Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, et al. Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage. Stroke 2005;36:1874-9.
49. Martinez-Gonzalez NA, Sudlow CL. Effects of apolipoprotein E genotype on outcome after ischaemic stroke, intracerebral haemorrhage and subarachnoid haemorrhage. J Neurol Neurosurg Psychiatry 2006;77:1329-35.
50. McCarron MO, Weir CJ, Muir KW, Hoffmann KL, Graffagnino C, Nicoll JA, et al. Effect of apolipoprotein E genotype on in-hospital mortality following intracerebral haemorrhage. Acta Neurol Scand 2003;107:106-9.
51. Sudlow C, Martinez Gonzalez NA, Kim J, Clark C. Dose apolipoprotein E genotype influence the risk of ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage? Systematic review and meta-analyses of 31 studies among 5961 cases and 17,965 controls. Stroke 2006;37:364-70.
52. Tzourio C, Arima H, Harrap S, Anderson C, Godin O, Woodward M, et al. APOE genotype, ethnicity, and the risk of cerebral hemorrhage. Neurology 2008;70:1322-8.
53. Seifert T, Lechner A, Flooh E, Schmidt H, Schmidt R, Fazekas F. Lack of association of lobar intracerebral hemorrhage with apolipoprotein E genotype in an unselected population. Cerebrovasc Dis 2006;21:266-70.
54. Polz E, Kostner GM. The binding of 2-glycoprotein-I to human serum lipoproteins: Distribution among density fractions. FEBS Lett 1979;102:183-6.
55. Schousboe I. 2-glycoprotein I: A plasma inhibitor of the contact activation of the intrinsic blood coagulation pathway. Blood 1985;66:1086-91.
56. Jones JV, James H, Tan MH, Mansouor M. Anti-phospholipid antibodies required 2-glycoprotein I (apolipoprotein H) as cofactor. J Rheumatol 1992;19:1397-402.
57. Mehdi H, Aston CE, Sanghera DK, Hamman RF, Kamboh MI. Genetic variation in the apolipoprotein H (2-glycoprotein I) gene affects plasma apolipoprotein H concentrations. Hum Genet 1999;105:63-71.
58. Mehdi H, Manzi S, Desai P, Chen Q, Nestlerode C, Bontempo F, et al. A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I. Eur J Biochem 2003;270:230-8.
59. Xia J, Yang QD, Yang QM, Xu HW, Liu YH, Zhang L, et al. Apolipoprotein H gene polymorphisms and risk of primary cerebral hemorrhage in a Chinese population. Cerebrovasc Dis 2004;17:197-203.
60. Sun L, Li Z, Zhang H, Ma A, Liao Y, Wang D, et al. Pentanucleotide TTTTA repeat polymorphism of apolipoprotein(a) gene and plasma lipoprotein(a) are associated with ischemic and hemorrhagic stroke in Chinese: A multicenter case-control study in China. Stroke 2003;34:1617-22.
61. Trommsdorff M, Kochl S, Lingenhel A, Kronenberg F, Delport R, Vermaak H, et al. A pentanucleotide repeat polymorphism in the 5' control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians. J Clin Invest 1995;96:150-7.
62. Li Z, Sun L, Zhang H, Liao Y, Wang D, Zhao B, et al. Elevated plasma homocysteine was associated with hemorrhagic and ischemic stroke, but methylenetetrahydrofolate reductase gene C677T polymorphism was a risk factor for thrombotic stroke: A Multicenter Case-Control Study in China. Stroke 2003;34:2085-90.
63. Al-Allawi NA, Avo AS, Jubrael JM. Methylenetetrahydrofolate reductase C677T polymorphism in Iraqi patients with ischemic stroke. Neurol India 2009;57:631-5.
64. Sun JZ, Xu Y, Lu H, Zhu Y. Polymorphism of the methylenetetrahydrofolate reductase gene association with homocysteine and ischemic stroke in type 2 diabetes. Neurol India 2009;57:589-93.
65. Sazci A, Ergul E, Tuncer N, Akpinar G, Kara I. Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C. Brain Res Bull 2006;71:45-50.
66. Fang X, Namba H, Akamine S, Sugiyama K. Methylenetetrahydrofolate reductase gene polymorphisms in patients with cerebral hemorrhage. Neurol Res 2005;27:73-6.
67. Somarajan BI, Kalita J, Mittal B, Misra UK. Evaluation of MTHFR C677T polymorphism in ischemic and hemorrhagic stroke patients. A case-control study in a Northern Indian population. J Neurol Sci 2011;304:67-70.
68. Yamada Y, Metoki N, Yoshida H, Satoh K, Ichihara S, Kato K, et al. Genetic risk for ischemic and hemorrhagic stroke. Arterioscler Thromb Vasc Biol 2006;26:1920-5.
69. Strand M, Soderstrom I, Wiklund PG, Hallmans G, Weinehall L, Soderberg S, et al. Polymorphisms at the osteoprotegerin and interleukin-6 genes in relation to first-ever stroke. Cerebrovasc Dis 2007;24:418-25.
70. Chen YC, Hu FJ, Chen P, Wu YR, Wu HC, Chen ST, et al. Association of TNF-alpha gene with spontaneous deep intracerebral hemorrhage in the Taiwan population: A case control study. BMC Neurol 2010;10:41.
71. Reuter B, Bugert P, Stroick M, Bukow S, Griebe M, Hennerici MG, et al. Timp-2 gene polymorphism is associated with intracerebral hemorrhage. Cerebrovasc Dis 2009;28:558-63.
72. Schuit SC, de Jong FH, Stolk L, Koek WN, van Meurs JB, Schoofs MW, et al. Estrogen receptor alpha gene polymorphisms are associated with estradiol levels in postmenopausal women. Eur J Endocrinol 2005;153:327-34.
73. Ellis JA, Infantino T, Harrap SB. Sex-dependent association of blood pressure with oestrogen receptor genes ERalpha and ERbeta. J Hypertens 2004;22:1127-31.
74. Nordstrom P, Glader CA, Dahlen G, Birgander LS, Lorentzon R, Waldenstrom A, et al. Oestrogen receptor alpha gene polymorphism is related to aortic valve sclerosis in postmenopausal women. J Intern Med 2003;254:140-6.
75. Strand M, Söderström I, Wiklund PG, Hallmans G, Weinehall L, Söderberg S, et al. Estrogen receptor alpha gene polymorphisms and first-ever intracerebral hemorrhage. Cerebrovasc Dis 2007;24:500-8.
76. Travis J, Salvesen GS. Human plasma proteinase inhibitors. Annu Rev Biochem 1983;52:655-709.
77. Obach V, Revilla M, Vila N, Cervera A, Chamorro A. 1-Antichymotrypsin polymorphism. A risk factor for hemorrhagic stroke in normotensive subjects. Stroke 2001;32:2588-91.
78. Fu Y, Xie R, Wang Y, Chen D, Zhang Y, Wang G, et al. Association between alpha-1-antichymotrypsin gene polymorphism and cerebral hemorrhage. Zhonghua Yi Xue Za Zhi 2002;82:915-7.
79. Dardiotis E, Hadjigeorgiou GM, Dardioti M, Scarmeas N, Paterakis K, Aggelakis K, et al. Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage. Eur Neurol2008;59:307-14.
80. Pera J, Slowik A, Dziedzic T, Szczudlik A. SERPINA3 polymorphism is not associated with primary intracerebral hemorrhage in a Polish population. Stroke 2006;37:906-7.
81. Somarajan BI, Kalita J, Misra UK, Mittal B. A study of alpha1 antichymotrypsin gene polymorphism in Indian stroke patients. J Neurol Sci 2010;290:57-9.
82. Pera J, Slowik A, Dziedzic T, Pulyk R, Wloch D, Szczudlik A. Glutathione peroxidase 1 C593T polymorphism is associated with lobar intracerebral hemorrhage. Cerebrovasc Dis 2008;25:445-9.
83. Lim YH, Jeong YS, Kim SK, Kim DH, Yun DH, Yoo SD, et al. Association between TGFBR2 gene polymorphism (rs2228048, Asn389Asn) and intracerebral hemorrhage in Korean population. Immunol Invest 2011;40:569-80.
84. Alberts MJ, Davis JP, Graffagnino C, McClenny C, Delong D, Granger C, et al. Endoglin gene polymorphism as a risk factor for sporadic intracerebral hemorrhage. Ann Neurol 1997;41:683-6.
85. Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, et al. Association of genetic variants with hemorrhagic stroke in Japanese individuals. Int J Mol Med 2010;25:649-56.
86. Yamada Y. Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke. Circ J 2006;70:1240-8.
87. Bae H, Jeong D, Doh J, Lee K, Yun I, Byun B. Recurrence of bleeding in patients with hypertensive intracerebral hemorrhage. Cerebrovasc Dis 1999;9:102-8.
88. Inagawa T. Recurrent primary intracerebral hemorrhage in Izumo City, Japan. Surg Neurol 2005;64:28-35; discussion 35-6.
89. Misra UK, Kalita J, Somarajan BI, Kumar B, Das M, Mittal B. Do ACE (rs4646994) and ADDUCIN (rs4961) gene polymorphisms predict the recurrence of hypertensive intracerebral hemorrhage? Neurol Sci 2011 [In press].
90. Hanger HC, Wilkinson TJ, Fayez-Iskander N, Sainsbury R. The risk of recurrent stroke after intracerebral haemorrhage. J Neurol Neurosurg Psychiatry 2007;78:836-40.
91. Bailey RD, Hart RG, Benavente O, Pearce LA. Recurrent brain hemorrhage is more frequent than ischemic stroke after intracranial hemorrhage. Neurology 2001;56:773-7.
92. O'Donnell HC, Rosand J, Knudsen KA, Furie KL, Segal AZ, Chiu RI, et al. Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage. N Engl J Med 2000;342:240-5.