Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol

Ioana Cotlarciuc; Thomas Marjot; Muhammad S. Khan; Sini Hiltunen; Elena Haapaniemi; Tiina M. Metso; Jukka Putaala; Susanna M. Zuurbier; Matthijs C. Brouwer; Serena M. Passamonti; Paolo Bucciarelli; Emanuela Pappalardo; Tasmin Patel; Paolo Costa; Marina Colombi; Patrícia Canhão; Aleksander Tkach; Rosa Santacroce; Maurizio Margaglione; Giovanni Favuzzi; Elvira Grandone; Donatella Colaizzo; Kostas Spengos; Antonio Arauz; Amanda Hodge; Reina Ditta; Stephanie Debette; Marialuisa Zedde; Guillaume Pare; José M. Ferro; Vincent Thijs; Alessandro Pezzini; Jennifer J. Majersik; Ida Martinelli; Jonathan M. Coutinho; Turgut Tatlisumak; Pankaj Sharma

doi:https://doi.org/10.1136/bmjopen-2016-012351

Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol

Ioana Cotlarciuc, Thomas Marjot, Muhammad S. Khan, Sini Hiltunen, Elena Haapaniemi, Tiina M. Metso, Jukka Putaala, Susanna M. Zuurbier, Matthijs C. Brouwer, Serena M. Passamonti, Paolo Bucciarelli, Emanuela Pappalardo, Tasmin Patel, Paolo Costa, Marina Colombi, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Maurizio Margaglione, Giovanni FavuzziElvira Grandone, Donatella Colaizzo, Kostas Spengos, Antonio Arauz, Amanda Hodge, Reina Ditta, Stephanie Debette, Marialuisa Zedde, Guillaume Pare, José M. Ferro, Vincent Thijs, Alessandro Pezzini, Jennifer J. Majersik, Ida Martinelli, Jonathan M. Coutinho, Turgut Tatlisumak, Pankaj Sharma

Research output: Contribution to journal › Article › Academic › peer-review

18 Citations (Scopus)

Abstract

Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders

Original language	English
Pages (from-to)	e012351
Journal	BMJ Open
Volume	6
Issue number	11
DOIs	https://doi.org/10.1136/bmjopen-2016-012351
Publication status	Published - 2016

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https://doi.org/10.1136/bmjopen-2016-012351

Cite this

Cotlarciuc, I., Marjot, T., Khan, M. S., Hiltunen, S., Haapaniemi, E., Metso, T. M., Putaala, J., Zuurbier, S. M., Brouwer, M. C., Passamonti, S. M., Bucciarelli, P., Pappalardo, E., Patel, T., Costa, P., Colombi, M., Canhão, P., Tkach, A., Santacroce, R., Margaglione, M., ... Sharma, P. (2016). Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. BMJ Open, 6(11), e012351. https://doi.org/10.1136/bmjopen-2016-012351

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title = "Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol",

abstract = "Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders",

author = "Ioana Cotlarciuc and Thomas Marjot and Khan, {Muhammad S.} and Sini Hiltunen and Elena Haapaniemi and Metso, {Tiina M.} and Jukka Putaala and Zuurbier, {Susanna M.} and Brouwer, {Matthijs C.} and Passamonti, {Serena M.} and Paolo Bucciarelli and Emanuela Pappalardo and Tasmin Patel and Paolo Costa and Marina Colombi and Patr{\'i}cia Canh{\~a}o and Aleksander Tkach and Rosa Santacroce and Maurizio Margaglione and Giovanni Favuzzi and Elvira Grandone and Donatella Colaizzo and Kostas Spengos and Antonio Arauz and Amanda Hodge and Reina Ditta and Stephanie Debette and Marialuisa Zedde and Guillaume Pare and Ferro, {Jos{\'e} M.} and Vincent Thijs and Alessandro Pezzini and Majersik, {Jennifer J.} and Ida Martinelli and Coutinho, {Jonathan M.} and Turgut Tatlisumak and Pankaj Sharma",

year = "2016",

doi = "https://doi.org/10.1136/bmjopen-2016-012351",

language = "English",

volume = "6",

pages = "e012351",

journal = "BMJ Open",

issn = "2044-6055",

publisher = "BMJ Publishing Group",

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Cotlarciuc, I, Marjot, T, Khan, MS, Hiltunen, S, Haapaniemi, E, Metso, TM, Putaala, J, Zuurbier, SM, Brouwer, MC, Passamonti, SM, Bucciarelli, P, Pappalardo, E, Patel, T, Costa, P, Colombi, M, Canhão, P, Tkach, A, Santacroce, R, Margaglione, M, Favuzzi, G, Grandone, E, Colaizzo, D, Spengos, K, Arauz, A, Hodge, A, Ditta, R, Debette, S, Zedde, M, Pare, G, Ferro, JM, Thijs, V, Pezzini, A, Majersik, JJ, Martinelli, I, Coutinho, JM, Tatlisumak, T & Sharma, P 2016, 'Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol', BMJ Open, vol. 6, no. 11, pp. e012351. https://doi.org/10.1136/bmjopen-2016-012351

TY - JOUR

T1 - Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol

AU - Cotlarciuc, Ioana

AU - Marjot, Thomas

AU - Khan, Muhammad S.

AU - Hiltunen, Sini

AU - Haapaniemi, Elena

AU - Metso, Tiina M.

AU - Putaala, Jukka

AU - Zuurbier, Susanna M.

AU - Brouwer, Matthijs C.

AU - Passamonti, Serena M.

AU - Bucciarelli, Paolo

AU - Pappalardo, Emanuela

AU - Patel, Tasmin

AU - Costa, Paolo

AU - Colombi, Marina

AU - Canhão, Patrícia

AU - Tkach, Aleksander

AU - Santacroce, Rosa

AU - Margaglione, Maurizio

AU - Favuzzi, Giovanni

AU - Grandone, Elvira

AU - Colaizzo, Donatella

AU - Spengos, Kostas

AU - Arauz, Antonio

AU - Hodge, Amanda

AU - Ditta, Reina

AU - Debette, Stephanie

AU - Zedde, Marialuisa

AU - Pare, Guillaume

AU - Ferro, José M.

AU - Thijs, Vincent

AU - Pezzini, Alessandro

AU - Majersik, Jennifer J.

AU - Martinelli, Ida

AU - Coutinho, Jonathan M.

AU - Tatlisumak, Turgut

AU - Sharma, Pankaj

PY - 2016

Y1 - 2016

N2 - Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders

AB - Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders

U2 - https://doi.org/10.1136/bmjopen-2016-012351

DO - https://doi.org/10.1136/bmjopen-2016-012351

M3 - Article

C2 - 27881526

SN - 2044-6055

VL - 6

SP - e012351

JO - BMJ Open

JF - BMJ Open

IS - 11

ER -