본문 바로가기
KERD
논문KCI 등재

Stroke Genetics: A Review and Update

2

조회

0

다운로드

1

인용

0

참고문헌

키워드

주제분류신경과학

초록

Stroke genetics includes several topics of clinical interest, including (1) molecular genetic variations affecting risk of monogenic stroke syndromes; (2) molecular genetic variations affecting risk of common stroke syndromes, sometimes with specific effects on risk of specific main types of stroke or subtypes of ischemic and hemorrhagic stroke; (3) genetics of conditions associated with stroke risk e.g. white matter hyperintensities, atrial fibrillation and hypertension; (4) hereditary causes of familial aggregation of stroke; (5) epigenetic impact on protein expression during acute brain injury; (6) genetic influence on stroke recovery; and (7) pharmacogenetics. Genetic research methods include candidate gene studies; Genome Wide Association Studies; family studies; RNA and protein analyses; and advanced computer-aided analytical methods to detect statistically significant associations. Several methods that could improve our knowledge of stroke genetics are being developed e.g.: Exome content analysis; Next-generation sequencing; Whole genome sequencing; and Epigenetics. During 2012-2014, several Single Nucleotide Polymorphisms (SNPs) have been related to common ischemic stroke risk. Certain SNPs have been associated with risk of specific ischemic stroke subtypes such as large vessel disease and cardiac embolism, particular subtypes of intracerebral hemorrhage (ICH), especially lobar ICH, and with prognosis after ICH. Large international studies on stroke recovery and exome content are ongoing. Advanced mathematical models have been used to study how several SNPs can act together and increase stroke risk burden. Such efforts require large numbers of patients and controls, which is achieved by co-operation in large international consortia such as the International Stroke Genetics Consortium. This overview includes an introduction to genetics, stroke genetics in general, and different genetic variations that may influence stroke risk. It presents some of the latest reports on stroke genetics published in high impact journals. The role of pharmacogenetics, the current clinical situation, and future prospects will also be discussed.

Abstract

Stroke genetics includes several topics of clinical interest, including (1) molecular genetic variations affecting risk of monogenic stroke syndromes; (2) molecular genetic variations affecting risk of common stroke syndromes, sometimes with specific effects on risk of specific main types of stroke or subtypes of ischemic and hemorrhagic stroke; (3) genetics of conditions associated with stroke risk e.g. white matter hyperintensities, atrial fibrillation and hypertension; (4) hereditary causes of familial aggregation of stroke; (5) epigenetic impact on protein expression during acute brain injury; (6) genetic influence on stroke recovery; and (7) pharmacogenetics. Genetic research methods include candidate gene studies; Genome Wide Association Studies; family studies; RNA and protein analyses; and advanced computer-aided analytical methods to detect statistically significant associations. Several methods that could improve our knowledge of stroke genetics are being developed e.g.: Exome content analysis; Next-generation sequencing; Whole genome sequencing; and Epigenetics. During 2012-2014, several Single Nucleotide Polymorphisms (SNPs) have been related to common ischemic stroke risk. Certain SNPs have been associated with risk of specific ischemic stroke subtypes such as large vessel disease and cardiac embolism, particular subtypes of intracerebral hemorrhage (ICH), especially lobar ICH, and with prognosis after ICH. Large international studies on stroke recovery and exome content are ongoing. Advanced mathematical models have been used to study how several SNPs can act together and increase stroke risk burden. Such efforts require large numbers of patients and controls, which is achieved by co-operation in large international consortia such as the International Stroke Genetics Consortium. This overview includes an introduction to genetics, stroke genetics in general, and different genetic variations that may influence stroke risk. It presents some of the latest reports on stroke genetics published in high impact journals. The role of pharmacogenetics, the current clinical situation, and future prospects will also be discussed.

참고문헌 (77)

  1. Bohlander SK., "ABCs of genomics", Hematology Am Soc Hematol Educ Program, 2013, pp.316~323 (2013)
  2. Topol EJ., "The genetics of heart attack", Heart, 92, pp.855~861 (2006)
  3. Bogenhagen DF., "Mitochondrial DNA nucleoid structure", Biochim Biophys Acta, 1819, pp.914~920 (2012)
  4. Gretarsdottir S., "The gene encoding phosphodiesterase 4D confers risk of ischemic stroke", Nat Genet, 35, pp.131~138 (2003)
  5. Lövkvist H., "A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene", Eur J Hum Genet, 20, pp.783~789 (2012)
  6. Lövkvist H., "Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?", Eur J Neurol, 20, pp.1284~1291 (2013)
  7. Bevan S., "Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations", Stroke, 43, pp.3161~3167 (2012)
  8. Meschia JF., "Stroke Genetics Network(SiGN)study : design and rationale for a genome-wide association study of ischemic stroke subtypes", Stroke, 44, pp.2694~2702 (2013)
  9. Sharma P., "Genetics of ischaemic stroke", J Neurol Neurosurg Psychiatry, 84, pp.1302~1308 (2013)
  10. Falcone GJ., "Current concepts and clinical applications of stroke genetics", Lancet Neurol, 13, pp.405~418 (2014)
  11. Gretarsdottir S., "Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke", Ann Neurol, 64, pp.402~409 (2008)
  12. Traylor M., "Genetic risk factors for ischaemic stroke and its subtypes(the METASTROKE collaboration) : a meta-analysis of genome-wide association studies", Lancet Neurol, 11, pp.951~962 (2012)
  13. Kilarski LL., "Meta-analysis in more than 17, 900 cases of ischemic stroke reveals a novel association at 12q24. 12", Neurology, 83, pp.678~685 (2014)
  14. International Stroke Genetics Consortium(ISGC)., "Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke", Nat Genet, 44, pp.328~333 (2012)
  15. Holliday EG., "Common variants at 6p21. 1 are associated with large artery atherosclerotic stroke", Nat Genet, 44, pp.1147~1151 (2012)
  16. Smith JG., "Common genetic variants on chromosome 9p21 confers risk of ischemic stroke : a large-scale genetic association study", Circ Cardiovasc Genet, 2, pp.159~164 (2009)
  17. Williams FM., "Ischemic stroke is associated with the ABO locus : the EuroCLOT study", Ann Neurol, 73, pp.16~31 (2013)
  18. Traylor M., "A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach", PLoS Genet, 10, pp.e1004469~ (2014)
  19. Ikram MA., "Genomewide association studies of stroke", N Engl J Med, 360, pp.1718~1728 (2009)
  20. Gudbjartsson DF., "A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke", Nat Genet, 41, pp.876~878 (2009)
  21. Cole JW, "Stroke Genetics", pp.147~170 (2013), Springer
  22. Caplan L, "Uncommon causes of stroke. 2nd edition" (2008), Cambridge University Press
  23. Federico A., "Hereditary cerebral small vessel diseases : a review", J Neurol Sci, 322, pp.25~30 (2012)
  24. Wardlaw JM., "Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration", Lancet Neurol, 12, pp.822~838 (2013)
  25. Malik R., "Multilocus genetic risk score associates with ischemic stroke in case-control and prospective cohort studies", Stroke, 45, pp.394~402 (2014)
  26. Weng YC., "COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage", Ann Neurol, 71, pp.470~477 (2012)
  27. Biffi A., "Variants at APOE influence risk of deep and lobar intracerebral hemorrhage", Ann Neurol, 68, pp.934~943 (2010)
  28. Woo D., "Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage", Am J Hum Genet, 94, pp.511~521 (2014)
  29. Ma Q., "The rs10 947803 SNP of KCNK17 is associated with cerebral hemorrhage but not ischemic stroke in a Chinese population", Neurosci Lett, 539, pp.82~85 (2013)
  30. Ibrahim-Verbaas CA., "Predicting stroke through genetic risk functions : the CHARGE risk score project", Stroke, 45, pp.403~412 (2014)
  31. Vermeer SE., "Silent brain infarcts and white matter lesions increase stroke risk in the general population : the Rotterdam scan study", Stroke, 34, pp.1126~1129 (2003)
  32. Gouw AA., "Progression of white matter hyperintensities and incidence of new lacunes over a 3-year period : the Leukoaraiosis and Disability study", Stroke, 39, pp.1414~1420 (2008)
  33. Atwood LD., "Genetic variation in white matter hy­perintensity volume in the Framingham Study", Stroke, 35, pp.1609~1613 (2004)
  34. Fornage M., "Genome-wide association studies of cerebral white matter lesion burden : the CHARGE consortium", Ann Neurol, 69, pp.928~939 (2011)
  35. Verhaaren BF., "Replication study of chr17q25 with cerebral white matter lesion volume", Stroke, 42, pp.3297~3299 (2011)
  36. Adib-Samii P., "17q25 Locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status", Stroke, 44, pp.1609~1615 (2013)
  37. Opherk C., "Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL", Stroke, 45, pp.968~972 (2014)
  38. de Leeuw FE., "Interaction between hypertension, apoE, and cerebral white matter lesions", Stroke, 35, pp.1057~1060 (2004)
  39. Nyberg L., "The APOE ε4 allele in relation to brain white-matter microstructure in adulthood and aging", Scand J Psychol, 55, pp.263~267 (2014)
  40. Schmidt H., "Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of agerelated cerebral small vessel disease", Brain, 134(Pt 11), pp.33843397~ (2011)
  41. Ellinor PT., "Meta-analysis identifies six new susceptibility loci for atrial fibrillation", Nat Genet, 44, pp.670~675 (2012)
  42. Sinner MF, "Integrating genetic, transcriptional, and functional analyses to identify five novel genes for atrial fibrillation", Circulation (2014)
  43. Lubitz SA., "Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese", J Am Coll Cardiol, 63, pp.12001210~ (2014)
  44. Tada H., "Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke", Stroke, 45, pp.2856~2862 (2014)
  45. Ehret GB., "Genes for blood pressure : an opportunity to understand hypertension", Eur Heart J, 34, pp.951961~ (2013)
  46. International Consortium for Blood Pressure Genome-Wide Association Studies., "Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk", Nature, 478, pp.103~109 (2011)
  47. Simino J., "Geneage interactions in blood pressure regulation : a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia", Am J Hum Genet, 95, pp.24~38 (2014)
  48. Falcone GJ., "Burden of risk alleles for hypertension increases risk of intracerebral hemorrhage", Stroke, 43, pp.2877~2883 (2012)
  49. Schunkert H., "Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease", Nat Genet, 43, pp.333~338 (2011)
  50. Dichgans M., "Shared genetic susceptibility to ischemic stroke and coronary artery disease : a genome-wide analysis of common variants", Stroke, 45, pp.24~36 (2014)
  51. Lindgren A., "Prevalence of stroke and vascular risk factors among first-degree relatives of stroke patients and control subjects. A prospective consecutive study", Cerebrovasc Dis, 20, pp.381~387 (2005)
  52. Seshadri S., "Parental occurrence of stroke and risk of stroke in their children : the Framingham study", Circulation, 121, pp.1304~1312 (2010)
  53. Brass LM., "A study of twins and stroke", Stroke, 23, pp.221~223 (1992)
  54. Bak S., "Genetic liability in stroke : a long-term follow-up study of Danish twins", Stroke, 33, pp.769~774 (2002)
  55. Gaist D., "Stroke research in GenomEUtwin", Twin Res, 6, pp.442~447 (2003)
  56. Hwang JY., "Epigenetic mechanisms in stroke and epilepsy", Neuropsychopharmacology, 38, pp.167182~ (2013)
  57. Qureshi IA., "Emerging role of epigenetics in stroke : part 1 : DNA methylation and chromatin modifications", Arch Neurol, 67, pp.1316~1322 (2010)
  58. Qureshi IA., "The emerging role of epigenetics in stroke : II. RNA regulatory circuitry", Arch Neurol, 67, pp.14351441~ (2010)
  59. Schweizer S., "Epigenetic mechanisms in cerebral ischemia", J Cereb Blood Flow Metab, 33, pp.13351346~ (2013)
  60. Ramos-Cejudo J., "Spatial and temporal gene expression differences in core and periinfarct areas in experimental stroke: a microarray analysis", PLoS One, 7, pp.e52121~ (2012)
  61. Qureshi IA., "Emerging themes in epigenetics : implications for understanding and treating nervous system disorders", Epigenomics, 2, pp.345~349 (2010)
  62. Zaleska MM., "The development of stroke therapeutics : promising mechanisms and translational challenges", Neuropharmacology, 56, pp.329~341 (2009)
  63. Pearson-Fuhrhop KM., "Genetic variation in the human brain dopamine system influences motor learning and its modulation by L-Dopa", PLoS One, 8, pp.e61197~ (2013)
  64. Qin L., "An adaptive role for BDNF Val66Met polymorphism in motor recovery in chronic stroke", J Neurosci, 34, pp.2493~2502 (2014)
  65. Cramer SC., "Correlation between genetic polymorphisms and stroke recovery : analysis of the GAIN Americas and GAIN International Studies", Eur J Neurol, 19, pp.718724~ (2012)
  66. Aberg ND., "Genetic variation at the IGF1 locus shows association with post-stroke outcome and to circulating IGF1", Eur J Endocrinol, 169, pp.759~765 (2013)
  67. Maguire J., "Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functional outcome : a novel finding", J Stroke Cerebrovasc Dis, 20, pp.134~144 (2011)
  68. Biffi A., "APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage : a genetic association study", Lancet Neurol, 10, pp.702~709 (2011)
  69. Devan WJ., "Heritability estimates identify a substantial genetic contribution to risk and outcome of intracerebral hemorrhage", Stroke, 44, pp.1578~1583 (2013)
  70. Lindgren A., "GISCOME - genetics of ischaemic stroke outcome study", Cerebrovasc Dis, 37(Suppl 1), pp.285~ (2014)
  71. Fernández-Cadenas I., "IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke", Stroke, 43, pp.2659~2665 (2012)
  72. del Río-Espínola A., "A predictive clinicalgenetic model of tissue plasminogen activator response in acute ischemic stroke", Ann Neurol, 72, pp.716~729 (2012)
  73. Furie B., "Do pharmacogenetics have a role in the dosing of vitamin K antagonists?", N Engl J Med, 369, pp.2345~2346 (2013)
  74. Falcone GJ., "APOE ε variants increase risk of warfarinrelated intracerebral hemorrhage", Neurology, 83, pp.11391146~ (2014)
  75. Paré G., "Genetic determinants of dabigatran plasma levels and their relation to bleeding", Circulation, 127, pp.1404~1412 (2013)
  76. Chan NC., "Role of phenotypic and genetic testing in managing clopidogrel therapy", Blood, 124, pp.689~699 (2014)

관련 논문AI추천

이 간행물의 다른 논문 (12건)