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  • 1 Pécsi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Pécs Szigeti út 12. 7624
  • 2 Pándy Kálmán Kórház Neurológia és Agyérbetegségek Osztály Gyula
  • 3 Veszprém Megyei Cholnoky Ferenc Kórház Neurológiai Osztály Veszprém
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Az agyi érbetegségek magas előfordulási aránya indokolja a megkülönböztetett figyelmet, hiszen a stroke-ot a szív- és érrendszeri megbetegedések és a rosszindulatú daganatok után a harmadik leggyakoribb halálozási okként tartják számon világszerte. Az utóbbi évtizedekben jelentős progresszió volt tapasztalható a stroke és általában a cerebro- és cardiovascularis betegség hátterében álló genetikai variánsok azonosításában. Ezeknek a variánsoknak a vizsgálata újfajta szemlélet felé nyitott a betegségek patogenezisének megismerésében; hozzájárulhat a betegség rizikófaktorai elleni küzdelemhez, az optimális jövőképünk szerint a stroke-ra hajlamos egyének kiszűréséhez és gondozásához. Ischaemiás stroke hátterében számos, a haemostasis, a renin-angiotenzin rendszer vagy a lipidmetabolizmus fontos fehérjéit kódoló génekben lokalizálódó genetikai variánst vizsgáltak. Ezeknek a variánsoknak a száma a robusztus genomi asszociációs vizsgálatok megjelenésével és napjainkban is tartó terjedésével ugrásszerűen megnőtt. A szerzők tanulmányukban olyan kutatási eredményeket foglalnak össze, amelyek a személyre szabott medicina és a stroke prevenciója számára fontos mérföldkövek lehetnek. Orv. Hetil., 2011, 152, 455–463.

  • Truscott, B. L.: WHO on stroke. Ann. Intern. Med., 1972, 76, 139–140.

    Truscott B. L. , 'WHO on stroke ' (1972 ) 76 Ann. Intern. Med. : 139 -140.

  • Adams, H. P. Jr., Bendixen, B. H., Kappelle, L. J. és mtsai: 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.

    Kappelle L. J. , 'Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment ' (1993 ) 24 Stroke : 35 -41.

    • Search Google Scholar
  • Bamford, J., Sandercock, P., Dennis, M. és mtsai: Classification and natural history of clinically identifiable subtypes of cerebral infarction. Lancet, 1991, 337, 1521–1526.

    Dennis M. , 'Classification and natural history of clinically identifiable subtypes of cerebral infarction ' (1991 ) 337 Lancet : 1521 -1526.

    • Search Google Scholar
  • Elias, M. F., Sullivan, L. M., D’Agostino, R. B. és mtsai: Framingham stroke risk profile and lowered cognitive performance. Stroke, 2004, 35, 404–409.

    D’Agostino R. B. , 'Framingham stroke risk profile and lowered cognitive performance ' (2004 ) 35 Stroke : 404 -409.

    • Search Google Scholar
  • Whisnant, J. P.: Modeling of risk factors for ischemic stroke. The Willis Lecture. Stroke, 1997, 28, 1840–1844.

    Whisnant J. P. , 'Modeling of risk factors for ischemic stroke. The Willis Lecture ' (1997 ) 28 Stroke : 1840 -1844.

    • Search Google Scholar
  • Graeber, M. B., Müller, U.: Recent developments in the molecular genetics of mitochondrial disorders. J. Neurol. Sci., 1998, 153, 251–263.

    Müller U. , 'Recent developments in the molecular genetics of mitochondrial disorders ' (1998 ) 153 J. Neurol. Sci. : 251 -263.

    • Search Google Scholar
  • Hassan, A., Markus, H. S.: Genetics and ischaemic stroke. Brain, 2000, 123, 1784–1812.

    Markus H. S. , 'Genetics and ischaemic stroke ' (2000 ) 123 Brain : 1784 -1812.

  • Casas, J. P., Hingorani, A. D., Bautista, L. E. és mtsa: Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. Arch. Neurol., 2004, 61, 1652–1661.

    Bautista L. E. , 'Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls ' (2004 ) 61 Arch. Neurol. : 1652 -1661.

    • Search Google Scholar
  • Rao, R., Tah, V., Casas, J. P. és mtsai: Ischaemic stroke subtypes and their genetic basis: A comprehensive meta-analysis of small and large vessel stroke. Eur. Neurol., 2008, 61, 76–86.

    Casas J. P. , 'Ischaemic stroke subtypes and their genetic basis: A comprehensive meta-analysis of small and large vessel stroke ' (2008 ) 61 Eur. Neurol. : 76 -86.

    • Search Google Scholar
  • Cambien, F., Poirier, O., Lecerf, L. és mtsai: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature, 1992, 359, 641–644.

    Lecerf L. , 'Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction ' (1992 ) 359 Nature : 641 -644.

    • Search Google Scholar
  • Markus, H. S., Barley, J., Lunt, R. és mtsai: Angiotensin-converting enzyme gene deletion polymorphism: a new risk factor for lacunar stroke but not carotid atheroma. Stroke, 1995, 26, 1329–1333.

    Lunt R. , 'Angiotensin-converting enzyme gene deletion polymorphism: a new risk factor for lacunar stroke but not carotid atheroma ' (1995 ) 26 Stroke : 1329 -1333.

    • Search Google Scholar
  • Szolnoki, Z., Somogyvari, F., Kondacs, A. és mtsai: Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke. J. Neurol. Neurosurg. Psychiatry, 2003, 74, 1615–1620.

    Kondacs A. , 'Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke ' (2003 ) 74 J. Neurol. Neurosurg. Psychiatry : 1615 -1620.

    • Search Google Scholar
  • Rubattu, S., Di Angelantonio, E., Stanzione, R. és mtsai: Gene polymorphisms of the renin-angiotensin-aldosterone system and the risk of ischemic stroke: a role of the A1166C/AT1 gene variant. J. Hypertens., 2004, 22, 2129–2134.

    Stanzione R. , 'Gene polymorphisms of the renin-angiotensin-aldosterone system and the risk of ischemic stroke: a role of the A1166C/AT1 gene variant ' (2004 ) 22 J. Hypertens. : 2129 -2134.

    • Search Google Scholar
  • Szolnoki, Z., Melegh, B.: Gene-gene and gene-environment interplay represent specific susceptibility for different types of ischaemic stroke and leukoaraiosis. Curr. Med. Chem., 2006, 13, 1627–1634.

    Melegh B. , 'Gene-gene and gene-environment interplay represent specific susceptibility for different types of ischaemic stroke and leukoaraiosis ' (2006 ) 13 Curr. Med. Chem. : 1627 -1634.

    • Search Google Scholar
  • Wang, X. L., Sim, A. S., Badenhop, R. F. és mtsai: A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene. Nat. Med., 1996, 2, 41–45.

    Badenhop R. F. , 'A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene ' (1996 ) 2 Nat. Med. : 41 -45.

    • Search Google Scholar
  • Szolnoki, Z., Havasi, V., Bene, J. és mtsai: Endothelial nitric oxide synthase gene interactions and the risk of ischaemic stroke. Acta Neurol. Scand., 2005, 111, 29–33.

    Bene J. , 'Endothelial nitric oxide synthase gene interactions and the risk of ischaemic stroke ' (2005 ) 111 Acta Neurol. Scand. : 29 -33.

    • Search Google Scholar
  • Green, F., Kelleher, C., Wilkes H. és mtsai: A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler. Thromb., 1991, 11, 540–546.

    Wilkes H. , 'A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals ' (1991 ) 11 Arterioscler. Thromb. : 540 -546.

    • Search Google Scholar
  • Heywood, D. M., Carter, A. M., Catto, A. J. és mtsai: Polymorphisms of the factor VII gene and circulating FVII:C levels in relation to acute cerebrovascular disease and poststroke mortality. Stroke, 1997, 28, 816–821.

    Catto A. J. , 'Polymorphisms of the factor VII gene and circulating FVII:C levels in relation to acute cerebrovascular disease and poststroke mortality ' (1997 ) 28 Stroke : 816 -821.

    • Search Google Scholar
  • Bertina, R. M., Koeleman, B. P., Koster, T. és mtsai: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 1994, 369, 64–67.

    Koster T. , 'Mutation in blood coagulation factor V associated with resistance to activated protein C ' (1994 ) 369 Nature : 64 -67.

    • Search Google Scholar
  • Martinelli, I., Franchi, F., Akwan, S. és mtsai: The transition G to A at position 20210 in the 3’-untranslated region of the prothrombin gene is not associated with cerebral ischemia [letter]. Blood, 1997, 90, 3806.

    Akwan S. , 'The transition G to A at position 20210 in the 3’-untranslated region of the prothrombin gene is not associated with cerebral ischemia [letter] ' (1997 ) 90 Blood : 3806 -.

    • Search Google Scholar
  • Kessler, C., Spitzer, C., Stauske D. és mtsai: The apolipoprotein E and beta-fibrinogen G/A-455 gene polymorphisms are associated with ischemic stroke involving large-vessel disease. Arterioscler. Thromb. Vasc. Biol., 1997, 17, 2880–2884.

    Stauske D. , 'The apolipoprotein E and beta-fibrinogen G/A-455 gene polymorphisms are associated with ischemic stroke involving large-vessel disease ' (1997 ) 17 Arterioscler. Thromb. Vasc. Biol. : 2880 -2884.

    • Search Google Scholar
  • Carter, A. M., Catto, A. J., Bamford, J. M. és mtsa: Gender-specific associations of the fibrinogen B beta 448 polymorphism, fibrinogen levels, and acute cerebrovascular disease. Arterioscler. Thromb. Vasc. Biol., 1997, 17, 589–594.

    Bamford J. M. , 'Gender-specific associations of the fibrinogen B beta 448 polymorphism, fibrinogen levels, and acute cerebrovascular disease ' (1997 ) 17 Arterioscler. Thromb. Vasc. Biol. : 589 -594.

    • Search Google Scholar
  • Weiss, E. J., Bray, P. F., Tayback, M. és mtsai: A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N. Engl. J. Med., 1996, 334, 1090–1094.

    Tayback M. , 'A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis ' (1996 ) 334 N. Engl. J. Med. : 1090 -1094.

    • Search Google Scholar
  • Szolnoki, Z., Somogyvari, F., Kondacs, A. és mtsai: Increased prevalence of platelet glycoprotein IIb/IIIa PLA2 allele in ischaemic stroke associated with large vessel pathology. Thromb. Res., 2003, 109, 265–269.

    Kondacs A. , 'Increased prevalence of platelet glycoprotein IIb/IIIa PLA2 allele in ischaemic stroke associated with large vessel pathology ' (2003 ) 109 Thromb. Res. : 265 -269.

    • Search Google Scholar
  • Szolnoki, Z., Maasz, A., Magyari, L. és mtsai: The combination of homozygous MTHFR 677T and angiotensin II type-1 receptor 1166C variants confers the risk of small-vessel-associated ischemic stroke. J. Mol. Neurosci., 2007, 31, 201–207.

    Magyari L. , 'The combination of homozygous MTHFR 677T and angiotensin II type-1 receptor 1166C variants confers the risk of small-vessel-associated ischemic stroke ' (2007 ) 31 J. Mol. Neurosci. : 201 -207.

    • Search Google Scholar
  • Austin, M. A., Hokanson, J. E., Edwards, K. L.: Hypertriglyceridemia as a cardiovascular risk factor. Am. J. Cardiol., 1998, 81, 7B–12B.

    Edwards K. L. , 'Hypertriglyceridemia as a cardiovascular risk factor ' (1998 ) 81 Am. J. Cardiol. : 7B -12B.

    • Search Google Scholar
  • Fredrickson, D. S.: Plasma lipoproteins and apolipoproteins. Harv. Lect., 1974, 68, 185–237.

    Fredrickson D. S. , 'Plasma lipoproteins and apolipoproteins ' (1974 ) 68 Harv. Lect. : 185 -237.

    • Search Google Scholar
  • Aalto-Setälä, K., Palomäki, H., Miettinen, H. és mtsai: Genetic risk factors and ischaemic cerebrovascular disease: role of common variation of the genes encoding apolipoproteins and angiotensin-converting enzyme. Ann. Med., 1998, 30, 224–233.

    Miettinen H. , 'Genetic risk factors and ischaemic cerebrovascular disease: role of common variation of the genes encoding apolipoproteins and angiotensin-converting enzyme ' (1998 ) 30 Ann. Med. : 224 -233.

    • Search Google Scholar
  • Szolnoki, Z., Somogyvari, F., Kondacs, A. és mtsai: Specific APO E genotypes in combination with the ACE D/D or MTHFR 677TT mutation yield an independent genetic risk of leukoaraiosis. Acta Neurol. Scand., 2004, 109, 222–227.

    Kondacs A. , 'Specific APO E genotypes in combination with the ACE D/D or MTHFR 677TT mutation yield an independent genetic risk of leukoaraiosis ' (2004 ) 109 Acta Neurol. Scand. : 222 -227.

    • Search Google Scholar
  • Pennacchio, L. A., Rubin, E. M.: Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice. Arterioscler. Thromb. Vasc. Biol., 2003, 23, 529–534.

    Rubin E. M. , 'Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice ' (2003 ) 23 Arterioscler. Thromb. Vasc. Biol. : 529 -534.

    • Search Google Scholar
  • Weinberg, R. B., Cook, V. R., Beckstead, J. A. és mtsai: Structure and interfacial properties of human apolipoprotein A-V. J. Biol. Chem., 2003, 278, 34438–34444.

    Beckstead J. A. , 'Structure and interfacial properties of human apolipoprotein A-V ' (2003 ) 278 J. Biol. Chem. : 34438 -34444.

    • Search Google Scholar
  • Merkel, M., Heeren, J.: Give me A5 for lipoprotein hydrolysis! J. Clin. Invest., 2005, 115, 2694–2696.

    Heeren J. , 'Give me A5 for lipoprotein hydrolysis! ' (2005 ) 115 J. Clin. Invest. : 2694 -2696.

    • Search Google Scholar
  • Hubacek, J. A.: Apolipoprotein A5 and triglyceridemia. Focus on the effects of the common variants. Clin. Chem. Lab. Med., 2005, 43, 897–902.

    Hubacek J. A. , 'Apolipoprotein A5 and triglyceridemia. Focus on the effects of the common variants ' (2005 ) 43 Clin. Chem. Lab. Med. : 897 -902.

    • Search Google Scholar
  • Talmud, P. J.: Rare APOA5 mutations – clinical consequences, metabolic and functional effects: an ENID review. Atherosclerosis, 2007, 194, 287–292.

    Talmud P. J. , 'Rare APOA5 mutations – clinical consequences, metabolic and functional effects: an ENID review ' (2007 ) 194 Atherosclerosis : 287 -292.

    • Search Google Scholar
  • Szalai, C., Keszei, M., Duba, J. és mtsai: Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with an increased susceptibility for coronary artery disease. Atherosclerosis, 2004, 173, 109–114.

    Duba J. , 'Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with an increased susceptibility for coronary artery disease ' (2004 ) 173 Atherosclerosis : 109 -114.

    • Search Google Scholar
  • Martinelli, N., Trabetti, E., Bassi, A. és mtsai: The –1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study. Atherosclerosis, 2007, 191, 409–417.

    Bassi A. , 'The –1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study ' (2007 ) 191 Atherosclerosis : 409 -417.

    • Search Google Scholar
  • Yamada, Y., Kato, K., Hibino, T. és mtsai: Prediction of genetic risk for metabolic syndrome. Atherosclerosis, 2007, 191, 298–304.

    Hibino T. , 'Prediction of genetic risk for metabolic syndrome ' (2007 ) 191 Atherosclerosis : 298 -304.

    • Search Google Scholar
  • Elosua, R., Ordovas, J. M., Cupples, L. A. és mtsai: Variants at the APOA5 locus, association with carotid atherosclerosis, and modification by obesity: the Framingham Study. J. Lipid. Res., 2006, 47, 990–996.

    Cupples L. A. , 'Variants at the APOA5 locus, association with carotid atherosclerosis, and modification by obesity: the Framingham Study ' (2006 ) 47 J. Lipid. Res. : 990 -996.

    • Search Google Scholar
  • Grallert, H., Sedlmeier, E. M., Huth, C. és mtsai: APOA5 variants and metabolic syndrome in Caucasians. J. Lipid. Res., 2007, 48, 2614–2621.

    Huth C. , 'APOA5 variants and metabolic syndrome in Caucasians ' (2007 ) 48 J. Lipid. Res. : 2614 -2621.

    • Search Google Scholar
  • Talmud, P. J., Palmen, J., Putt, W. és mtsai: Determination of the functionality of common APOA5 polymorphisms. J. Biol. Chem., 2005, 280, 28215–28220.

    Putt W. , 'Determination of the functionality of common APOA5 polymorphisms ' (2005 ) 280 J. Biol. Chem. : 28215 -28220.

    • Search Google Scholar
  • Touboul, P. J., Labreuche, J., Vicaut, E. és mtsai: Carotid intima-media thickness, plaques, and Framingham risk score as independent determinants of stroke risk. Stroke, 2005, 36, 1741–1745.

    Vicaut E. , 'Carotid intima-media thickness, plaques, and Framingham risk score as independent determinants of stroke risk ' (2005 ) 36 Stroke : 1741 -1745.

    • Search Google Scholar
  • Maasz, A., Kisfali, P., Szolnoki, Z. és mtsai: Apolipoprotein A5 gene C56G variant confers risk for the development of large-vessel associated ischemic stroke. J. Neurol., 2008, 255, 649–654.

    Szolnoki Z. , 'Apolipoprotein A5 gene C56G variant confers risk for the development of large-vessel associated ischemic stroke ' (2008 ) 255 J. Neurol. : 649 -654.

    • Search Google Scholar
  • Maasz, A., Kisfali, P., Horvatovich, K. és mtsai: Apolipoprotein A5 gene IVS3+G476A allelic variant confers susceptibility for development of ischemic stroke. Circ. J., 2008, 72, 1065–1070.

    Horvatovich K. , 'Apolipoprotein A5 gene IVS3+G476A allelic variant confers susceptibility for development of ischemic stroke ' (2008 ) 72 Circ. J. : 1065 -1070.

    • Search Google Scholar
  • Pennacchio, L. A., Olivier, M., Hubacek, J. A. és mtsai: Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum. Mol. Genet., 2002, 11, 3031–3038.

    Hubacek J. A. , 'Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels ' (2002 ) 11 Hum. Mol. Genet. : 3031 -3038.

    • Search Google Scholar
  • Huang, P., Kostulas, K., Huang, W. X. és mtsai: Lipoprotein lipase gene polymorphisms in ischaemic stroke and carotid stenosis. Eur. J. Clin. Invest., 1997, 27, 740–742.

    Huang W. X. , 'Lipoprotein lipase gene polymorphisms in ischaemic stroke and carotid stenosis ' (1997 ) 27 Eur. J. Clin. Invest. : 740 -742.

    • Search Google Scholar
  • Pennisi, E.: Breakthrough of the year. Human genetic variation. Science, 2007, 318, 1842–1843.

    Pennisi E. , 'Breakthrough of the year. Human genetic variation ' (2007 ) 318 Science : 1842 -1843.

    • Search Google Scholar
  • Matarín, M., Brown, W. M., Scholz, S. és mtsai: A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol., 2007, 6, 414–420.

    Scholz S. , 'A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release ' (2007 ) 6 Lancet Neurol. : 414 -420.

    • Search Google Scholar
  • Gretarsdottir, S., Thorleifsson, G., Manolescu, A. és mtsai: Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann. Neurol., 2008, 64, 402–409.

    Manolescu A. , 'Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke ' (2008 ) 64 Ann. Neurol. : 402 -409.

    • Search Google Scholar
  • Yamada, Y., Fuku, N., Tanaka, M. és mtsai: Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. Atherosclerosis, 2009, 207, 144–149.

    Tanaka M. , 'Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study ' (2009 ) 207 Atherosclerosis : 144 -149.

    • Search Google Scholar
  • Ikram, M. A., Seshadri, S., Bis, J. C. és mtsai: Genomewide association studies of stroke. N. Engl. J. Med., 2009, 360, 1718–1728.

    Bis J. C. , 'Genomewide association studies of stroke ' (2009 ) 360 N. Engl. J. Med. : 1718 -1728.

    • Search Google Scholar

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