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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(12): 881-889
DOI: 10.1590/0004-282X20170157
Article

Joinville stroke biobank: study protocol and first year’s results

Biobanco de acidente cerebrovascular de Joinville: protocolo de estudos e resultados dos primeiros anos
Leslie Ecker Ferreira
1   Universidade da Região de Joinville, Joinville SC, Brasil
,
Paulo Henrique Condeixa de França
1   Universidade da Região de Joinville, Joinville SC, Brasil
,
Vivian Nagel
1   Universidade da Região de Joinville, Joinville SC, Brasil
,
Vanessa Venancio
1   Universidade da Região de Joinville, Joinville SC, Brasil
,
Juliana Safanelli
1   Universidade da Região de Joinville, Joinville SC, Brasil
,
Felipe Ibiapina dos Reis
1   Universidade da Região de Joinville, Joinville SC, Brasil
,
Luis Furtado
2   Universidade Federal do Ceará, Sobral CE, Brasil
,
Rui Kleber Martins
3   Universidade de São Paulo, Ribeirão Preto SP, Brasil
,
Gustavo Weiss
4   Universidade Federal do Mato Grosso do Sul, Campo Grande MS, Brasil
,
Elder Oda
5   Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brasil
,
Iscia Lopes-Cendes
6   Universidade de Campinas, Campinas SP, Brasil
7   Instituto Brasileiro de Neurociência e Neurotecnologia, Campinas SP, Brasil
,
Octavio Pontes-Neto
3   Universidade de São Paulo, Ribeirão Preto SP, Brasil
,
Norberto Luiz Cabral
1   Universidade da Região de Joinville, Joinville SC, Brasil
› Author AffiliationsCNPq - (Grant Number: 402396-2013/08) and Coordination for the Improvement of Higher Education Personnel (CAPES) (PROCAD 183768).
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ABSTRACT

Aiming to contribute to studies that use detailed clinical and genomic information of biobanks, we present the initial results of the first Latin American Stroke Biobank.

Methods: Blood samples were collected from patients included in the Joinville Stroke Registry and four Brazilian cities. Demographic socio-economic data, cardiovascular risk factors, Causative Classification System for Ischemic Stroke, Trial of Org 10172 in Acute Stroke Treatment and National Institutes of Health scores, functional stroke status (modified Rankin) and brain images were recorded. Additionally, controls from both geographic regions were recruited. High-molecular-weight genomic DNA was obtained from all participants.

Results: A total of 2,688 patients and 3,282 controls were included. Among the patients, 76% had ischemic stroke, 12% transient ischemic attacks, 9% hemorrhagic stroke and 3% subarachnoid hemorrhage. Patients with undetermined ischemic stroke were most common according the Trial of Org 10172 in Acute Stroke Treatment (40%) and Causative Classification System for Ischemic Stroke (47%) criteria. A quarter of the patients were under 55 years of age at the first-ever episode.

Conclusions: We established the Joinville Stroke Biobank and discuss its potential for contributing to the understanding of the risk factors leading to stroke.

RESUMO

Com o objetivo de contribuir para estudos que utilizam informações clínicas e gençmicas de biobancos, apresentamos os resultados iniciais do primeiro Biobanco Latinoamericano em Acidente Vascular Cerebral (AVC).

Métodos: Foram coletadas amostras de sangue de pacientes recrutados pelo Registro de AVC de Joinville e posteriormente de quatro cidades brasileiras. Foram registrados dados socioeconçmicos demográficos, fatores de risco cardiovasculares, Causative Classification System (CCS), Trial of Org 10172 in Acute Stroke Treatment, National Institutes of Health, estado funcional (Rankin modificado) e imagens cerebrais. Adicionalmente, foram recrutados controles das regiões geográficas correspondentes. Obteve-se DNA gençmico de todos participantes.

Resultados: Foram incluídos 2688 pacientes e 3282 controles. Entre os pacientes, 76% tiveram AVC isquêmico, 12% ataques isquêmicos transitórios, 9% AVC hemorrágico e 3% hemorragia subaracnóidea. Os casos indeterminados foram os mais frequentes e classificados de acordo com TOAST (40%) e CCS (47%). Um quarto dos pacientes tinham menos de 55 anos no primeiro evento.

Conclusões: Estabelecemos o Joinville Stroke Biobank, e discutimos aqui seu potencial na compreensão dos fatores de risco do AVC.

Keywords:

stroke - genetics - biobank

Palavras-chave:

acidente vascular cerebral - genética - biobancos

Support:

CNPq - (Grant Number: 402396-2013/08) and Coordination for the Improvement of Higher Education Personnel (CAPES) (PROCAD 183768).




Publication History

Received: 20 May 2017

Accepted: 08 August 2017

Article published online:
01 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Feigin VL, Krishnamurthi RV, Parmar P, Norrving B, Mensah GA, Bennett DA et al. Update on the global burden of ischemic and hemorrhagic stroke in 1990—2013: the GBD 2013 study. Neuroepidemiology. 2015;45(3):161-76. https://doi.org/10.1159/000441085
  • 2 O'Donnell MJ, Xavier D, Liu L, Zhang H, Chin SL, Rao-Melacini P et al. Risk factors for ischemic and intracerebral haemorrhagic stroke in 22 countries (the INTERSTROKE study): a case-control study. Lancet. 2010;376(9735):112-23. https://doi.org/10.1016/S0140-6736(10)60834-3
  • 3 Ikram MA, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS et al. Genomewide association studies of stroke. N Engl J Med. 2009;360(17):1718-28. https://doi.org/10.1056/NEJMoa0900094
  • 4 Musunuru K, Hickey KT, Al-Khatib SM, Delles C, Fornage M, Fox CS et al. Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association. Circ Cardiovasc Genet. 2015;8(1):216-42. https://doi.org/10.1161/HCG.20170157201701570020
  • 5 Dichgans M. Genetics of ischaemic stroke. Lancet Neurol. 2007;6(2):149-61. https://doi.org/10.1016/S1474-4422(07)70028-5
  • 6 Hewitt J, Walters M, Padmanabhan S, Dawson J. Cohort profile of the UK Biobank: diagnosis and characteristics of cerebrovascular disease. BMJ Open. 2016;6(3):e009161. https://doi.org/10.1136/bmjopen-2015-009161
  • 7 Meschia JF, Arnett DK, Ay H, Brown RD Jr, Benavente OR, Cole JW et al. Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes. Stroke. 2013;44(10):2694-702. https://doi.org/10.1161/STROKEAHA.113.001857
  • 8 Yadav S, Schanz R, Maheshwari A, Khan MS, Slark J, Silva R et al. Bio-repository of DNA in stroke (BRAINS): a study protocol. BMC Med Genet. 2011;12:34. https://doi.org/10.1186/1471-2350-12-34
  • 9 Cabral NL, Cougo-Pinto PT, Magalhaes PS, Longo AL, Moro CH, Amaral CH et al. Trends of stroke incidence from 1995 to 2013 in Joinville, Brazil. Neuroepidemiology. 2016;46(4):273-81. https://doi.org/10.1159/000445060
  • 10 Prefeitura Municipal de Joinville. Lei Nº 7.448, de 12 de junho de 2013. Institui o banco de dados Registro de Acidente Vascular Cerebral — AVC de Joinville e dá outras providências. Jornal Município. 28 jun 2013.
  • 11 World Health Organization — WHO. WHO Steps Stroke Manual (V2.0): the WHO STEPWise approach to stroke surveillance. Geneva: World Health Organization; 2005.
  • 12 Paiva GFS, Silva DBN, Feijó CA. Consumption and socioeconomic classification in Brazil: a study based on the Brazilian family expenditure survey. In: IARIW-IBGE Special Conference on “Income, Wealth and Well-being in Latin America”; 2013 Sep 11-14; Rio de Janeiro, Brazil.
  • 13 Sulter G, Steen C, De Keyser J. Use of the Barthel index and modified Rankin scale in acute stroke trials. Stroke. 1999;30(8):1538-41. https://doi.org/10.1161/01.STR.30.8.1538
  • 14 Adams HP Jr, Bendixen BH, Kappelle LJ, Biller J, Love BB, Gordon DL et al. Classification of subtype of acute ischaemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment. Stroke. 1993;24(1):35-41. https://doi.org/10.1161/01.STR.24.1.35
  • 15 Ay H, Benner T, Arsava EM, Furie Kl, Singhal AB, Jensen MB et al. A computerized algorithm for etiologic classification of ischemic stroke: the Causative Classification of Stroke System. Stroke. 2007;38(11):2979-84. https://doi.org/10.1161/STROKEAHA.107.490896
  • 16 Hart RG, Diener HC, Coutts SB et al. Embolic strokes of undetermined source: the case for a new clinical construct. Lancet Neurol. 2014;13(4):429-38. https://doi.org/10.1016/S1474-4422(13)70310-7
  • 17 Jayasinahe SR, Mishra A, Van Daal A, Kwan E. Genetics and cardiovascular disease: design and development of a DNA biobank. Exp Clin Cardiol. 2009;14(3):33-7.
  • 18 McCarty CA, Chisholm RL, Chute CG, Kullo IJ, Jarvik GP, Larson EB et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011;4(1):13. https://doi.org/10.1186/1755-8794-4-13
  • 19 Wolfe C, Rudd A, Howard R et al. Incidence and case fatality rates of stroke subtypes in a multiethnic population: the South London Stroke Register. J Neurol Neurosurg Psychiatry. 2002;72:211-6.
  • 20 Feigin VL, Lawes CM, Bennett DA, Barker-Collo SL, Parag V. Worldwide stroke incidence and early case fatality reported in 56 population-based studies: a systematic review. Lancet Neurol. 2009;8(4):355-69. https://doi.org/10.1016/S1474-4422(09)70025-0
  • 21 Cotlarciuc I, Khan MS, Maheshwari A, Yadav S, Khan FY, Al-Hail H et al. Bio-repository of DNA in stroke: a study protocol of three ancestral populations. JRSM Cardiovasc Dis. 2012;1(4):cvd.2012.12019. https://doi.org/10.1258/cvd.2012.012019
  • 22 Chen Z, Chen J, Collins R, Guo Y, Peto R, Wu F et al. China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up. Int J Epidemiol. 2011;40(6):1652-66. https://doi.org/10.1093/ije/dyr120
  • 23 Matsushita T, Umeno J, Hirakawa Y, Yonemoto K, Aschilkawa K, Amitani H et al. Association study of the polymorphisms on chromosome 12p13 with atherothrombotic stroke in the Japanese population. J Hum Genet. 2010;55(7):473-6. https://doi.org/10.1038/jhg.2010.45
  • 24 Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, Pirinen M et al. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet. 2012;44(3):328-33. https://doi.org/10.1038/ng.1081
  • 25 Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng YC et al. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol. 2012;11(11):951-62. https://doi.org/10.1016/S1474-4422(12)70234-X
  • 26 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. 2016;15(2):174-84. https://doi.org/10.1016/S1474-4422(15)00338-5
  • 27 Carrera C, Jiménez-Conde J, Derdak S et al. Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke. Thromb Haemost. 2016;116(6):1165-71. https://doi.org/10.1160/TH16-02-0113
  • 28 Amador MA, Cavalcante GC, Santos NP et al. Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations. BMC Res Notes. 2016;9(1):101. https://doi.org/10.1186/s13104-016-1906-9
  • 29 Santos NP, Ribeiro-Rodrigues EM, Ribeiro-dos-Santos AK, Pereira R, Gusmão L, Amorim A et al. Assessing individual interethnic admixture and population substructure using a 48-Insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat. 2010;31(2):184-90. https://doi.org/10.1002/humu.21159