Genetics of vascular dementia - review from the ICVD working group

BMC Medicine

Volumn 15, Issue 1, 2017, Pages

  Ikram, M Arfan ^a   Bersano, Anna ^b   Manso Calderón, Raquel ^c,d   Jia, Jian Ping ^e   Schmidt, Helena ^f   Middleton, Lefkos ^g   Nacmias, Benedetta ^h   Siddiqi, Saima ⁱ   Adams, Hieab H H ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^d UNIVERSITY OF SALAMANCA   (Spain)

^e CAPITAL MEDICAL UNIVERSITY   (China)

^f MEDICAL UNIVERSITY OF GRAZ   (Austria)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ INSTITUTE OF BIOMEDICAL AND GENETIC ENGINEERING IBGE   (Pakistan)

Author keywords

Cerebral small vessel disease; Genetics; Magnetic resonance imaging; Vascular dementia

Indexed keywords

ALZHEIMER DISEASE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CADASIL; CARASIL; CEREBROVASCULAR ACCIDENT; CEREBROVASCULAR DISEASE; COL4A1 GENE; DISEASE ASSOCIATION; FABRY DISEASE; GENE; GENE IDENTIFICATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GLA GENE; HTRA1 GENE; HUMAN; MONOGENIC DISORDER; MULTIINFARCT DEMENTIA; NOTCH3 GENE; PHENOTYPE; RETINAL VASCULOPATHY WITH CEREBRAL LEUKODYSTROPHY; REVIEW; TREX1 GENE; DEMENTIA; DIAGNOSTIC IMAGING; DISEASE COURSE; GENETIC POLYMORPHISM; NUCLEAR MAGNETIC RESONANCE IMAGING;

APOLIPOPROTEIN E; ARYLDIALKYLPHOSPHATASE;

APOLIPOPROTEINS E; ARYLDIALKYLPHOSPHATASE; DEMENTIA; DEMENTIA, VASCULAR; DISEASE PROGRESSION; HUMANS; MAGNETIC RESONANCE IMAGING; POLYMORPHISM, GENETIC;

EID: 85014471229     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/s12916-017-0813-9     Document Type: Review

References (61)

1. Gorelick PB, et al.; on behalf of the American Heart Association Stroke Council, Council on Epidemiology and Prevention, Council on Cardiovascular Nursing, Council on Cardiovascular Radiology and Intervention, and Council on Cardiovascular Surgery and Anesthesia. Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. 2011;42:2672-713.
2. Bergem ALM, Engedal K, Kringlen E. The role of heredity in late-onset Alzheimer disease and vascular dementia: a twin study. Arch Gen Psychiatry. 1997;54:264-70.
3. Heiss WD, Rosenberg GA, Thiel A, Berlot R, De Reuck J. Neuroimaging in vascular cognitive impairment: a state-of-the-art review. BMC Med. 2016;14:174.
4. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser M-G. Cadasil. Lancet Neurol. 2009;8:643-53.
5. Pastores GM, Lien Y-HH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol. 2002;13:S130-3.
6. Clarke JTR. Narrative review: Fabry disease. An Intern Med. 2007;146:425-33.
7. Bersano A, et al. Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy. Acta Neurol Scand. 2012;126:77-97.
8. Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry disease in stroke patients-a systematic review and meta-analysis. J Stroke Cerebrovasc Dis. 2014;23:985-92.
9. Rolfs A, et al. Acute cerebrovascular disease in the young the stroke in young Fabry patients study. Stroke. 2013;44:340-9.
10. Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease a systematic review. Stroke. 2010;41:e513-8.
11. Winkler DT, et al. Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy. J Neurol. 2008;255:77-88.
12. Siveke JT, Schmid H. Evidence for systemic manifestations in cerebroretinal vasculopathy. Am J Med Genet Part A. 2003;123A(3):309.
13. Richards A, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068-70.
14. Weil S, et al. Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. Neurology. 1999;53(3):629-31.
15. DiFrancesco JC, et al. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. Neurol Sci. 2014;36:323-30.
16. Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis. 2011;20:85-93.
17. Nozaki H, et al. Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology. 2015;85:459-63.
18. Nozaki H, Nishizawa M, Onodera O. Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2014;45:3447-53.
19. Cordeiro IM, et al. Shifting the CARASIL paradigm report of a non-asian family and literature review. Stroke. 2015;46:1110-2.
20. Bianchi S, et al. Two novel HTRA1 mutations in a European CARASIL patient. Neurology. 2014;82:898-900.
21. Tan RYY, Markus HS. Monogenic causes of stroke: now and the future. J Neurol. 2015;262:2601-16.
22. Bersano A, et al. The genetics of small-vessel disease. Curr Med Chem. 2012;19:4124-41.
23. Yin Y-W, et al. Association between apolipoprotein E gene polymorphism and the risk of vascular dementia: a meta-analysis. Neurosci Lett. 2012;514:6-11.
24. Zeng L, et al. Can Chinese herbal medicine adjunctive therapy improve outcomes of senile vascular dementia? Systematic review with meta-analysis of clinical trials. Phytother Res. 2015;29:1843-57.
25. Skrobot OA, et al. A validation study of vascular cognitive impairment genetics meta-analysis findings in an independent collaborative cohort. J Alzheimers Dis. 2016;53:981-9.
26. Alam R, et al. Synergistic epistasis of paraoxonase 1 (rs662 and rs85460) and apolipoprotein E4 genes in pathogenesis of Alzheimer's disease and vascular dementia. Am J Alzheimers Dis Other Demen. 2014;29(8):769-76.
27. Dantoine TF, et al. Paraoxonase 1 192/55 gene polymorphisms in Alzheimer's disease. An N Y Acad Sci. 2002;977:239-44.
28. Helbecque N, Cottel D, Codron V, Berr C, Amouyel P. Paraoxonase 1 gene polymorphisms and dementia in humans. Neurosci Lett. 2004;358:41-4.
29. Zuliani G, et al. Genetic polymorphisms in older subjects with vascular or Alzheimer's dementia. Acta Neurol Scandin. 2001;103:304-8.
30. Bednarska-Makaruk ME, et al. Paraoxonase 1 (PON1) gene-108C > T and p. Q192R polymorphisms and arylesterase activity of the enzyme in patients with dementia. Folia Neuropathol. 2013;51:111-9.
31. McCusker SM, et al. Association between polymorphism in regulatory region of gene encoding tumour necrosis factor α and risk of Alzheimer's disease and vascular dementia: a case-control study. Lancet. 2001;357:436-9.
32. Fung HC, et al. Heat shock protein 70 and tumor necrosis factor alpha in Taiwanese patients with dementia. Dement Geriatr Cogn Disord. 2005;20:1-7.
33. Kim Y, Lee C. The gene encoding transforming growth factor β1 confers risk of ischemic stroke and vascular dementia. Stroke. 2006;37:2843-5.
34. Peila R, et al. A TGF-β1 polymorphism association with dementia and neuropathologies: the HAAS. Neurobiol Aging. 2007;28:1367-73.
35. Sun J-H, et al. Genetics of vascular dementia: systematic review and meta-analysis. J Alzheimers Dis. 2015;46:611-29.
36. Liu H, et al. The MTHFR C677T polymorphism contributes to an increased risk for vascular dementia: a meta-analysis. J Neurol Sci. 2010;294:74-80.
37. Dwyer R, Skrobot OA, Dwyer J, Munafo M, Kehoe PG. Using Alzgene-like approaches to investigate susceptibility genes for vascular cognitive impairment. J Alzheimers Dis. 2013;34:145-54.
38. Kim Y, Kong M, Lee C. Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia. World J Biol Psychiatry. 2013;14:220-6.
39. Schrijvers EMC, et al. Genome-wide association study of vascular dementia. Stroke. 2012;43:315-9.
40. Ikram MA, et al. Genomewide association studies of stroke. New Engl J Med. 2009;360:1718-28.
41. Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Stroke Genetics Network (SiGN); International Stroke Genetics Consortium (ISGC). Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2016;15(7):695-707.
42. Bellenguez C, et al. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet. 2012;44:328-33.
43. NINDS Stroke Genetics Network (SiGN).; International Stroke Genetics Consortium (ISGC). Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. Lancet Neurol. 2015. http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(15)00338-5/abstract.
44. Lambert J-C, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013;45:1452-8.
45. Karch CM, Goate AM. Alzheimer's disease risk genes and mechanisms of disease pathogenesis. Biol Psychiatr. 2015;77:43-51.
46. Verhaaren BFJ, et al. Multi-ethnic genome-wide association study of cerebral white matter hyperintensities on MRI. Circ Cardiovasc Genet. 2015;8(2):398-409.
47. Verhaaren BFJ, et al. Replication study of chr17q25 with cerebral white matter lesion volume. Stroke. 2011;42:3297-99.
48. Tabara Y, et al. Association of Chr17q25 with cerebral white matter hyperintensities and cognitive impairment: the J-SHIPP study. Eur J Neurol. 2013;20:860-2.
49. Traylor M, et al. Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology. 2016;86:146-53.
50. Hofer E, et al. White matter lesion progression genome-wide search for genetic influences. Stroke. 2015;46:3048-57.
51. Debette S, et al. Genome-wide association studies of MRI-defined brain infarcts meta-analysis from the CHARGE consortium. Stroke. 2010;41:210-7.
52. Bulik-Sullivan BK, et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015;47:291-5. doi: 10.1038/ng.3211.
53. Bersano A, et al. Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke. J Stroke Cerebrovasc Dis. 2015;24:759-65.
54. Perneczky R, et al. Is the time ripe for new diagnostic criteria of cognitive impairment due to cerebrovascular disease? Consensus report of the International Congress on Vascular Dementia working group. BMC Med. 2016;14:162.
55. Akoudad S, et al. Cerebral microbleeds are associated with the progression of ischemic vascular lesions. Cerebrovasc Dis. 2014;37:382-8.
56. Charidimou A, et al. Enlarged perivascular spaces as a marker of underlying arteriopathy in intracerebral haemorrhage: a multicentre MRI cohort study. J Neurol Neurosurg Psychiatry. 2013;84:624-9.
57. de Groot M, et al. Changes in normal-appearing white matter precede development of white matter lesions. Stroke. 2013;44:1037-42.
58. Hachinski V, et al. National Institute of Neurological Disorders and Stroke-Canadian stroke network vascular cognitive impairment harmonization standards. Stroke. 2006;37:2220-41.
59. Roses AD, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenom J. 2010;10:375-84.
60. Roses AD, et al. New applications of disease genetics and pharmacogenetics to drug development. Curr Opin Pharmacol. 2014;14:81-9.
61. McCarthy AD, Kennedy JL, Middleton LT. Pharmacogenetics in drug development. Philosoph Trans Royal Soc B. 2005;360:1579-88.