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201. Author Correction : A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study

Author

Hauer, Allard J, Pulit, Sara L, van den Berg, Leonard H, de Bakker, Paul I W, Veldink, Jan H, and Ruigrok, Ynte M

Subjects
Published Erratum, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
Abstract

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

Published
2018

202. Complement C5 Contributes to Brain Injury After Subarachnoid Hemorrhage

Author

van Dijk, Bart J., primary, Meijers, Joost C.M., additional, Kloek, Anne T., additional, Knaup, Veronique L., additional, Rinkel, Gabriel J.E., additional, Morgan, B. Paul, additional, van der Kamp, Marije J., additional, Osuka, Koji, additional, Aronica, Eleonora, additional, Ruigrok, Ynte M., additional, van de Beek, Diederik, additional, Brouwer, Matthijs, additional, Pekna, Marcela, additional, Hol, Elly M., additional, and Vergouwen, Mervyn D.I., additional

Published
2019
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203. Exome-chip association analysis of intracranial aneurysms

Author

van 't Hof, Femke N.G., primary, Lai, Dongbing, additional, van Setten, Jessica, additional, Bots, Michiel L., additional, Vaartjes, Ilonca, additional, Broderick, Joseph, additional, Woo, Daniel, additional, Foroud, Tatiana, additional, Rinkel, Gabriel J.E., additional, de Bakker, Paul I.W., additional, and Ruigrok, Ynte M., additional

Published
2019
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208. Association of hippocampal calcification and cardiovascular risk factors in two patient cohorts

Author

van der Knaap, Marije J.A., primary, Peters, Melissa E.M., additional, Lucci, Carlo, additional, Geerlings, Mirjam I., additional, de Jong, Pim A., additional, Ruigrok, Ynte M., additional, Algra, A., additional, van der Graaf, Y., additional, Grobbee, D.E., additional, Rutten, G.E.H.M., additional, Visseren, F.L.J., additional, de Borst, G.J., additional, Kappelle, L.J., additional, Leiner, T., additional, and Doevendans, P.A., additional

Published
2019
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210. Heritability of circle of Willis variations in families with intracranial aneurysms

Author

Van Kammen, Mayte Sánchez, Moomaw, Charles J., Van Der Schaaf, Irene C., Brown, Robert D., Woo, Daniel, Broderick, Joseph P., Mackey, Jason S., Rinkel, Gabriël J.E., Huston, John, Ruigrok, Ynte M., Van Kammen, Mayte Sánchez, Moomaw, Charles J., Van Der Schaaf, Irene C., Brown, Robert D., Woo, Daniel, Broderick, Joseph P., Mackey, Jason S., Rinkel, Gabriël J.E., Huston, John, and Ruigrok, Ynte M.

Published
2018

212. Intracranial Aneurysm-Associated Single-Nucleotide Polymorphisms Alter Regulatory DNA in the Human Circle of Willis

Author

Laarman, Melanie D, Vermunt, Marit W, Netherlands Brain Bank, Ruigrok, Ynte M, Laarman, Melanie D, Vermunt, Marit W, Netherlands Brain Bank, and Ruigrok, Ynte M

Abstract

BACKGROUND AND PURPOSE: Genome-wide association studies significantly link intracranial aneurysm (IA) to single-nucleotide polymorphisms (SNPs) in 6 genomic loci. To gain insight into the relevance of these IA-associated SNPs, we aimed to identify regulatory regions and analyze overall gene expression in the human circle of Willis (CoW), on which these aneurysms develop.METHODS: We performed chromatin immunoprecipitation and sequencing for histone modifications H3K4me1 and H3K27ac to identify regulatory regions, including distal enhancers and active promoters, in postmortem specimens of the human CoW. These experiments were complemented with RNA sequencing on the same specimens. We determined whether these regulatory regions overlap with IA-associated SNPs, using computational methods. By combining our results with publicly available data, we investigated the effect of IA-associated SNPs on the newly identified regulatory regions and linked them to potential target genes.RESULTS: We find that IA-associated SNPs are significantly enriched in CoW regulatory regions. Some of the IA-associated SNPs that overlap with a regulatory region are likely to alter transcription factor binding, and in proximity to these regulatory regions are 102 genes that are expressed in the CoW. In addition, gene expression in the CoW is enriched for genes related to cell adhesion and the extracellular matrix.CONCLUSIONS: CoW regulatory regions link IA-associated SNPs to genes with a potential role in the development of IAs. Our data refine previous predictions on SNPs associated with IA and provide a substantial resource from which candidates for follow-up studies can be prioritized.

Published
2018

213. Risk factors for intracranial aneurysm rupture: A systematic review

Author

ZL Cerebrovasculaire Ziekten Medisch, AIOS Anesthesiologie, ZL Algemene en Acute Nec Medisch, Brain, Neurologie, Circulatory Health, Kleinloog, Rachel, De Mul, Nikki, Verweij, Bon H., Post, Jan Andries, Rinkel, Gabriel J.E., Ruigrok, Ynte M., ZL Cerebrovasculaire Ziekten Medisch, AIOS Anesthesiologie, ZL Algemene en Acute Nec Medisch, Brain, Neurologie, Circulatory Health, Kleinloog, Rachel, De Mul, Nikki, Verweij, Bon H., Post, Jan Andries, Rinkel, Gabriel J.E., and Ruigrok, Ynte M.

Published
2018

214. Author Correction: A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study

Author

Brain, CMM Groep De Ridder, Circulatory Health, Projectafdeling ALS, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Infection & Immunity, Neurogenetica, ZL Cerebrovasculaire Ziekten Medisch, Hauer, Allard J, Pulit, Sara L, van den Berg, Leonard H, de Bakker, Paul I W, Veldink, Jan H, Ruigrok, Ynte M, Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study Group, Brain, CMM Groep De Ridder, Circulatory Health, Projectafdeling ALS, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Infection & Immunity, Neurogenetica, ZL Cerebrovasculaire Ziekten Medisch, Hauer, Allard J, Pulit, Sara L, van den Berg, Leonard H, de Bakker, Paul I W, Veldink, Jan H, Ruigrok, Ynte M, and Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study Group

Published
2018

215. Perimesencephalic Hemorrhage: A Review of Epidemiology, Risk Factors, Presumed Cause, Clinical Course, and Outcome

Author

Opleiding Neurologie, Brain, ZL Cerebrovasculaire Ziekten Medisch, Circulatory Health, Oogheelkunde Onderzoek, Researchgr. Hart-brein as., Cardiovasculaire Epi Team 5, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Neurologie, Mensing, Liselore A., Vergouwen, Mervyn D. I., Laban, Kamil G., Ruigrok, Ynte M., Velthuis, Birgitta K., Algra, Ale, Rinkel, Gabriel J. E., Opleiding Neurologie, Brain, ZL Cerebrovasculaire Ziekten Medisch, Circulatory Health, Oogheelkunde Onderzoek, Researchgr. Hart-brein as., Cardiovasculaire Epi Team 5, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Neurologie, Mensing, Liselore A., Vergouwen, Mervyn D. I., Laban, Kamil G., Ruigrok, Ynte M., Velthuis, Birgitta K., Algra, Ale, and Rinkel, Gabriel J. E.

Published
2018

216. Heritability of circle of Willis variations in families with intracranial aneurysms

Author

MS Radiologie, Circulatory Health, Neurologie, Brain, Hersenen-Medisch 2, ZL Cerebrovasculaire Ziekten Medisch, Van Kammen, Mayte Sánchez, Moomaw, Charles J., Van Der Schaaf, Irene C., Brown, Robert D., Woo, Daniel, Broderick, Joseph P., Mackey, Jason S., Rinkel, Gabriël J.E., Huston, John, Ruigrok, Ynte M., MS Radiologie, Circulatory Health, Neurologie, Brain, Hersenen-Medisch 2, ZL Cerebrovasculaire Ziekten Medisch, Van Kammen, Mayte Sánchez, Moomaw, Charles J., Van Der Schaaf, Irene C., Brown, Robert D., Woo, Daniel, Broderick, Joseph P., Mackey, Jason S., Rinkel, Gabriël J.E., Huston, John, and Ruigrok, Ynte M.

Published
2018

218. BLOOD-FLOW PULSATILITY VARIATION ALONG THE CAROTID ARTERY INCLUDING CROSSING THE EXTRACRANIAL-INTRACRANIAL BORDER

Author

Ruigrok, Ynte M.

Abstract

Background and purpose: Previous studies have reported attenuation of arterial flow pulsation over the carotid siphon. We aimed to confirm these results and to further extend the observations by assessing the extracranial part of the internal carotid artery (ICA) and by assessing the carotid distensibility by measuring the lumen area pulsatility.Material and methods: Blood-flow pulsation was assessed using flow-sensitized 2-dimensional phase-contrast magnetic resonance imaging (2D PC-MRI) at 3T (Philips) in 39 healthy volunteers. Pulsatility Index (PI) and Area Index (AI) were calculated from time-resolved blood-flow velocities measured at the extracranial C1, carotid canal C4, and intracranial C7 segments of the ICA. (Index =(Maximum-Minimum)/Mean)Results: The blood-flow pulsation patterns confirmed the previous studies: The PI reduced by 8.9% (P

Published
2017

219. Association of Ischemic Imaging Phenotype With Progression of Brain Atrophy and Cerebrovascular Lesions on MRI

Author

Rissanen, Ina, Lucci, Carlo, Ghaznawi, Rashid, Hendrikse, Jeroen, Kappelle, L. Jaap, Geerlings, Mirjam I., Visseren, Frank L.J., Asselbergs, Folkert W., Nathoe, Hendrik M., Bots, Michiel L., Emmelot- Vonk, Marielle H., Jan de Borst, Gert, Leiner, Tim, de Jong, Pim A., Lely, A. Titia, van der Kaaij, Niels P., Ruigrok, Ynte M., Verhaar, Marianne C., and Westerink, Jan

Published
2021
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221. Complement C5 Contributes to Brain Injury After Subarachnoid Hemorrhage.

Author

van Dijk, Bart J., Meijers, Joost C.M., Kloek, Anne T., Knaup, Veronique L., Rinkel, Gabriel J.E., Morgan, B. Paul, van der Kamp, Marije J., Osuka, Koji, Aronica, Eleonora, Ruigrok, Ynte M., van de Beek, Diederik, Brouwer, Matthijs, Pekna, Marcela, Hol, Elly M., and Vergouwen, Mervyn D.I.

Abstract

Previous studies showed that complement activation is associated with poor functional outcome after aneurysmal subarachnoid hemorrhage (SAH). We investigated whether complement activation is underlying brain injury after aneurysmal SAH (n = 7) and if it is an appropriate treatment target. We investigated complement expression in brain tissue of aneurysmal SAH patients (n = 930) and studied the role of common genetic variants in C3 and C5 genes in outcome. We analyzed plasma levels (n = 229) to identify the functionality of a single nucleotide polymorphism (SNP) associated with outcome. The time course of C5a levels was measured in plasma (n = 31) and CSF (n = 10). In an SAH mouse model, we studied the extent of microglia activation and cell death in wild-type mice, mice lacking the C5a receptor, and in mice treated with C5-specific antibodies (n = 15 per group). Brain sections from aneurysmal SAH patients showed increased presence of complement components C1q and C3/C3b/iC3B compared to controls. The complement component 5 (C5) SNP correlated with C5a plasma levels and poor disease outcome. Serial measurements in CSF revealed that C5a was > 1400-fold increased 1 day after aneurysmal SAH and then gradually decreased. C5a in plasma was 2-fold increased at days 3–10 after aneurysmal SAH. In the SAH mouse model, we observed a ≈ 40% reduction in both microglia activation and cell death in mice lacking the C5a receptor, and in mice treated with C5-specific antibodies. These data show that C5 contributes to brain injury after experimental SAH, and support further study of C5-specific antibodies as novel treatment option to reduce brain injury and improve prognosis after aneurysmal SAH. [ABSTRACT FROM AUTHOR]

Published
2020
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223. Distribution of Cardioembolic Stroke: A Cohort Study.

Author

Pierik, Ramon, Algra, Ale, van Dijk, Ewoud, Erasmus, Michiel E., van Gelder, Isabella C., Koudstaal, Peter J., Luijckx, Gert-Jan R., Nederkoorn, Paul J., van Oostenbrugge, Robert J., Ruigrok, Ynte M., Scheeren, Thomas W.L., Uyttenboogaart, Maarten, Visser, Marieke C., Wermer, Marieke J.H., and van den Bergh, Walter M.

Subjects
STROKE, POISSON regression, CORONARY disease, COHORT analysis, CEREBRAL infarction
Abstract

Background: A cardiac origin in ischemic stroke is more frequent than previously assumed, but it is not clear which patients benefit from cardiac work-up if obvious cardiac pathology is absent. We hypothesized that thromboembolic stroke with a cardiac source occurs more frequently in the posterior circulation compared with thromboembolic stroke of another etiology. Methods: We performed a multicenter observational study in 3,311 consecutive patients with ischemic stroke who were enrolled in an ongoing prospective stroke registry of 8 University hospitals between September 2009 and November 2014 in The Netherlands. In this initiative, the so-called Parelsnoer Institute-Cerebrovascular Accident Study Group, clinical data, imaging, and biomaterials of patients with stroke are prospectively and uniformly collected. We compared the proportions of posterior stroke location in patients with a cardiac stroke source with those with another stroke etiology and calculated risk ratios (RR) with corresponding 95% CI with Poisson regression analyses. To assess which patient or disease characteristics were most strongly associated with a cardiac etiology in patients with ischemic stroke, we performed a stepwise backward regression analysis. Results: For the primary aim, 1,428 patients were eligible for analyses. The proportion of patients with a posterior stroke location among patients with a cardiac origin of their stroke (28%) did not differ statistically significant to those with another origin (25%), age and sex adjusted RR 1.16; 95% CI 0.96–1.41. For the secondary aim, 1,955 patients were eligible for analyses. No recent history of smoking, no hyperlipidemia, coronary artery disease, a higher age, and a higher National Institutes of Health Stroke Scale (NIHSS) score were associated with a cardiac etiology of ischemic stroke. Conclusions: We could not confirm our hypothesis that thromboembolic stroke localized in the posterior circulation is associated with a cardioembolic source of ischemic stroke, and therefore posterior stroke localization on itself does not necessitate additional cardiac examination. The lack of determinants of atherosclerosis, for example, no recent history of smoking and no hyperlipidemia, coronary artery disease, a higher age, and a higher NIHSS score are stronger risk factors for a cardiac source of ischemic stroke. [ABSTRACT FROM AUTHOR]

Published
2020
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224. Rationale and design of the extracranial Carotid artery Aneurysm Registry (CAR)

Author

Welleweerd, Janna C., primary, Bots, Michiel L., additional, Kappelle, L. Jaap, additional, Rinkel, Gabriel J., additional, Ruigrok, Ynte M., additional, Baas, Annette F., additional, van der Worp, H. Bart, additional, Vergouwen, Mervyn D., additional, Bleys, Ronald L., additional, Hendrikse, Jeroen, additional, Lo, T. Rob, additional, Moll, Frans L., additional, and de Borst, Gert J., additional

Published
2018
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225. Perimesencephalic Hemorrhage

Author

Mensing, Liselore A., primary, Vergouwen, Mervyn D.I., additional, Laban, Kamil G., additional, Ruigrok, Ynte M., additional, Velthuis, Birgitta K., additional, Algra, Ale, additional, and Rinkel, Gabriel J.E., additional

Published
2018
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229. Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms

Author

van 't Hof, Femke Ng, Vaucher, Julien, Holmes, Michael V, de Wilde, Arno, Baas, Annette F, Blankensteijn, Jan D, Hofman, Albert, Kiemeney, Lambertus Alm, Rivadeneira, Fernando, Uitterlinden, André G, Vermeulen, Sita H, Rinkel, Gabriël Je, de Bakker, Paul Iw, Ruigrok, Ynte M, van 't Hof, Femke Ng, Vaucher, Julien, Holmes, Michael V, de Wilde, Arno, Baas, Annette F, Blankensteijn, Jan D, Hofman, Albert, Kiemeney, Lambertus Alm, Rivadeneira, Fernando, Uitterlinden, André G, Vermeulen, Sita H, Rinkel, Gabriël Je, de Bakker, Paul Iw, and Ruigrok, Ynte M

Published
2017

230. A replication study of genetic risk loci for ischemic stroke in a Dutch population : A case-control study

Author

Hauer, Allard J., Pulit, Sara L., Van Den Berg, Leonard H., De Bakker, Paul I.W., Veldink, Jan H., Ruigrok, Ynte M., Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study Group, Hauer, Allard J., Pulit, Sara L., Van Den Berg, Leonard H., De Bakker, Paul I.W., Veldink, Jan H., Ruigrok, Ynte M., and Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study Group

Published
2017

231. Circulating microRNAs in patients with intracranial aneurysms

Author

Meeuwsen, John A.L., Van't Hof, Femke N.G., Van Rheenen, Wouter, Rinkel, Gabriel J.E., Veldink, Jan H., Ruigrok, Ynte M., Meeuwsen, John A.L., Van't Hof, Femke N.G., Van Rheenen, Wouter, Rinkel, Gabriel J.E., Veldink, Jan H., and Ruigrok, Ynte M.

Published
2017

232. Uniform data collection in routine clinical practice in cardiovascular patients for optimal care, quality control and research : The Utrecht Cardiovascular Cohort

Author

Asselbergs, Folkert W, Visseren, Frank Lj, Bots, Michiel L, de Borst, Gert J, Buijsrogge, Marc P, Dieleman, Jan M, van Dinther, Baukje Gf, Doevendans, Pieter A, Hoefer, Imo E, Hollander, Monika, de Jong, Pim A, Koenen, Steven V, Pasterkamp, Gerard, Ruigrok, Ynte M, van der Schouw, Yvonne T, Verhaar, Marianne C, Grobbee, Diederick E, Asselbergs, Folkert W, Visseren, Frank Lj, Bots, Michiel L, de Borst, Gert J, Buijsrogge, Marc P, Dieleman, Jan M, van Dinther, Baukje Gf, Doevendans, Pieter A, Hoefer, Imo E, Hollander, Monika, de Jong, Pim A, Koenen, Steven V, Pasterkamp, Gerard, Ruigrok, Ynte M, van der Schouw, Yvonne T, Verhaar, Marianne C, and Grobbee, Diederick E

Published
2017

233. Age-specific vascular risk factor profiles according to stroke subtype

Author

Hauer, Allard J., Ruigrok, Ynte M., Algra, Ale, van Dijk, Ewoud J., Koudstaal, Peter J., Luijckx, Gert Jan, Nederkoorn, Paul J., van Oostenbrugge, Robert J., Visser, Marieke C., Wermer, Marieke J., Jaap Kappelle, L., Klijn, Catharina J.M., Hauer, Allard J., Ruigrok, Ynte M., Algra, Ale, van Dijk, Ewoud J., Koudstaal, Peter J., Luijckx, Gert Jan, Nederkoorn, Paul J., van Oostenbrugge, Robert J., Visser, Marieke C., Wermer, Marieke J., Jaap Kappelle, L., and Klijn, Catharina J.M.

Published
2017

234. Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms

Author

Brain, Opleiding Neurologie, Genetica Klinische Genetica, Circulatory Health, Hersenen-Medisch 2, Infection & Immunity, CMM Groep Kaaij, ZL Cerebrovasculaire Ziekten Medisch, van 't Hof, Femke Ng, Vaucher, Julien, Holmes, Michael V, de Wilde, Arno, Baas, Annette F, Blankensteijn, Jan D, Hofman, Albert, Kiemeney, Lambertus Alm, Rivadeneira, Fernando, Uitterlinden, André G, Vermeulen, Sita H, Rinkel, Gabriël Je, de Bakker, Paul Iw, Ruigrok, Ynte M, Brain, Opleiding Neurologie, Genetica Klinische Genetica, Circulatory Health, Hersenen-Medisch 2, Infection & Immunity, CMM Groep Kaaij, ZL Cerebrovasculaire Ziekten Medisch, van 't Hof, Femke Ng, Vaucher, Julien, Holmes, Michael V, de Wilde, Arno, Baas, Annette F, Blankensteijn, Jan D, Hofman, Albert, Kiemeney, Lambertus Alm, Rivadeneira, Fernando, Uitterlinden, André G, Vermeulen, Sita H, Rinkel, Gabriël Je, de Bakker, Paul Iw, and Ruigrok, Ynte M

Published
2017

235. Comparative Ultrastructural and Stereological Analyses of Unruptured and Ruptured Saccular Intracranial Aneurysms

Author

ZL Cerebrovasculaire Ziekten Medisch, Brain, ZL Algemene en Acute Nec Medisch, Circulatory Health, Hersenen-Medisch 2, Neurologie, Korkmaz, Emine, Kleinloog, Rachel, Verweij, Bon H., Allijn, Iris E., Hekking, Liesbeth H.P., Regli, Luca, Rinkel, Gabriel J.E., Ruigrok, Ynte M., Andries Post, Jan, ZL Cerebrovasculaire Ziekten Medisch, Brain, ZL Algemene en Acute Nec Medisch, Circulatory Health, Hersenen-Medisch 2, Neurologie, Korkmaz, Emine, Kleinloog, Rachel, Verweij, Bon H., Allijn, Iris E., Hekking, Liesbeth H.P., Regli, Luca, Rinkel, Gabriel J.E., Ruigrok, Ynte M., and Andries Post, Jan

Published
2017

236. A replication study of genetic risk loci for ischemic stroke in a Dutch population: A case-control study

Author

UMC Utrecht, ZL Cerebrovasculaire Ziekten Medisch, Brain, Circulatory Health, CMM Groep De Ridder, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetica, Epi Methoden Team 5a, Infection & Immunity, Neurogenetica, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Hauer, Allard J., Pulit, Sara L., Van Den Berg, Leonard H., De Bakker, Paul I.W., Veldink, Jan H., Ruigrok, Ynte M., Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study Group, UMC Utrecht, ZL Cerebrovasculaire Ziekten Medisch, Brain, Circulatory Health, CMM Groep De Ridder, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetica, Epi Methoden Team 5a, Infection & Immunity, Neurogenetica, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Hauer, Allard J., Pulit, Sara L., Van Den Berg, Leonard H., De Bakker, Paul I.W., Veldink, Jan H., Ruigrok, Ynte M., and Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study Group

Published
2017

237. Age-specific vascular risk factor profiles according to stroke subtype

Author

ZL Cerebrovasculaire Ziekten Medisch, Brain, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Hauer, Allard J., Ruigrok, Ynte M., Algra, Ale, van Dijk, Ewoud J., Koudstaal, Peter J., Luijckx, Gert Jan, Nederkoorn, Paul J., van Oostenbrugge, Robert J., Visser, Marieke C., Wermer, Marieke J., Jaap Kappelle, L., Klijn, Catharina J.M., ZL Cerebrovasculaire Ziekten Medisch, Brain, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Hauer, Allard J., Ruigrok, Ynte M., Algra, Ale, van Dijk, Ewoud J., Koudstaal, Peter J., Luijckx, Gert Jan, Nederkoorn, Paul J., van Oostenbrugge, Robert J., Visser, Marieke C., Wermer, Marieke J., Jaap Kappelle, L., and Klijn, Catharina J.M.

Published
2017

238. Uniform data collection in routine clinical practice in cardiovascular patients for optimal care, quality control and research: The Utrecht Cardiovascular Cohort

Author

Cardiologie, Circulatory Health, Team Medisch, Julius Centrum, Interne Geneeskunde Vasculaire, Cardiovasculaire Epi Team 5, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Zorgeenheid Vaatchirurgie Medisch, CTC, Medische staf Anesthesiologie, Brain, Programma management Cardiovasculair, CDL Staf Research, HAG Hart- Vaatziekten, Researchgr. Systems Radiology, MS Verloskunde, Experimentele Afd. Cardiologie 1, CDL Cluster Onderzoek en Onderwijs, ZL Cerebrovasculaire Ziekten Medisch, Cardiovasculaire Epidemiologie, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Cardiovasculaire Epi Team 9, Asselbergs, Folkert W, Visseren, Frank Lj, Bots, Michiel L, de Borst, Gert J, Buijsrogge, Marc P, Dieleman, Jan M, van Dinther, Baukje Gf, Doevendans, Pieter A, Hoefer, Imo E, Hollander, Monika, de Jong, Pim A, Koenen, Steven V, Pasterkamp, Gerard, Ruigrok, Ynte M, van der Schouw, Yvonne T, Verhaar, Marianne C, Grobbee, Diederick E, Cardiologie, Circulatory Health, Team Medisch, Julius Centrum, Interne Geneeskunde Vasculaire, Cardiovasculaire Epi Team 5, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Zorgeenheid Vaatchirurgie Medisch, CTC, Medische staf Anesthesiologie, Brain, Programma management Cardiovasculair, CDL Staf Research, HAG Hart- Vaatziekten, Researchgr. Systems Radiology, MS Verloskunde, Experimentele Afd. Cardiologie 1, CDL Cluster Onderzoek en Onderwijs, ZL Cerebrovasculaire Ziekten Medisch, Cardiovasculaire Epidemiologie, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Cardiovasculaire Epi Team 9, Asselbergs, Folkert W, Visseren, Frank Lj, Bots, Michiel L, de Borst, Gert J, Buijsrogge, Marc P, Dieleman, Jan M, van Dinther, Baukje Gf, Doevendans, Pieter A, Hoefer, Imo E, Hollander, Monika, de Jong, Pim A, Koenen, Steven V, Pasterkamp, Gerard, Ruigrok, Ynte M, van der Schouw, Yvonne T, Verhaar, Marianne C, and Grobbee, Diederick E

Published
2017

239. Circulating microRNAs in patients with intracranial aneurysms

Author

Experimentele Afd. Cardiologie 1, Circulatory Health, Opleiding Neurologie, Brain, Hersenen-Medisch 2, Neurologie, Neurogenetica, ZL Cerebrovasculaire Ziekten Medisch, Meeuwsen, John A.L., Van't Hof, Femke N.G., Van Rheenen, Wouter, Rinkel, Gabriel J.E., Veldink, Jan H., Ruigrok, Ynte M., Experimentele Afd. Cardiologie 1, Circulatory Health, Opleiding Neurologie, Brain, Hersenen-Medisch 2, Neurologie, Neurogenetica, ZL Cerebrovasculaire Ziekten Medisch, Meeuwsen, John A.L., Van't Hof, Femke N.G., Van Rheenen, Wouter, Rinkel, Gabriel J.E., Veldink, Jan H., and Ruigrok, Ynte M.

Published
2017

241. Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms

Author

van 't Hof, Femke N G, Ruigrok, Ynte M, Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F, Blankensteijn, Jan D, Böttinger, Erwin P, Bown, Matthew J, Broderick, Joseph, Bijlenga, Philippe, Carrell, David S, Crawford, Dana C, Crosslin, David R, Ebeling, Christian, Eriksson, Johan G, Fornage, Myriam, Foroud, Tatiana, von Und Zu Fraunberg, Mikael, Friedrich, Christoph M, Gaál, Emília I, Gottesman, Omri, Guo, Dong-Chuan, Harrison, Seamus C, Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jääskeläinen, Juha E, Jones, Gregory T, Kiemeney, Lambertus A L M, Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J, Kuivaniemi, Helena, Kurki, Mitja I, Laakso, Aki, Lai, Dongbing, Leal, Suzanne M, Lehto, Hanna, LeMaire, Scott A, Low, Siew-Kee, Malinowski, Jennifer, McCarty, Catherine A, Milewicz, Dianna M, Mosley, Thomas H, Rinkel, Gabriël J E, de Bakker, Paul I W, Aneurysm Consortium, and Vascular Research Consortium of New Zealand

Subjects
abdominal aortic aneurysm, thoracic aortic aneurysm, Journal Article, intracranial aneurysm, genome wide association study
Abstract

Background--Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. Methods and Results--We performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts. We calculated polygenic scores based on IA-, AAA-, and TAA-associated SNPs and tested these scores for association to case-control status in the other aneurysm cohorts; this revealed no shared polygenic effects. Similarly, linkage disequilibrium-score regression analyses did not show significant correlations between any pair of aneurysm subtypes. Last, we evaluated the evidence for 14 previously published aneurysm risk singlenucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]=1.11; P=4.1910-5) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1910-3). Conclusions--Although there was no evidence for polygenic overlap between IAs, AAAs, and TAAs, we found nominally significant effects of two established risk loci for IAs and TAAs in AAAs. These two loci will require further replication.

Published
2016

245. Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms

Author

van 't Hof, Femke NG, primary, Vaucher, Julien, additional, Holmes, Michael V, additional, de Wilde, Arno, additional, Baas, Annette F, additional, Blankensteijn, Jan D, additional, Hofman, Albert, additional, Kiemeney, Lambertus ALM, additional, Rivadeneira, Fernando, additional, Uitterlinden, André G, additional, Vermeulen, Sita H, additional, Rinkel, Gabriël JE, additional, de Bakker, Paul IW, additional, and Ruigrok, Ynte M, additional

Published
2017
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246. Uniform data collection in routine clinical practice in cardiovascular patients for optimal care, quality control and research: The Utrecht Cardiovascular Cohort

Author

Asselbergs, Folkert W, primary, Visseren, Frank LJ, additional, Bots, Michiel L, additional, de Borst, Gert J, additional, Buijsrogge, Marc P, additional, Dieleman, Jan M, additional, van Dinther, Baukje GF, additional, Doevendans, Pieter A, additional, Hoefer, Imo E, additional, Hollander, Monika, additional, de Jong, Pim A, additional, Koenen, Steven V, additional, Pasterkamp, Gerard, additional, Ruigrok, Ynte M, additional, van der Schouw, Yvonne T, additional, Verhaar, Marianne C, additional, and Grobbee, Diederick E, additional

Published
2017
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247. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author

Bakker, Mark K., van der Spek, Rick A. A., van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C., Alg, Varinder S., van Eijk, Kristel R., Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G., Lin, Kuang, Li, Liming, Millwood, Iona Y., Chen, Zhengming, Rouleau, Guy A., Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie L. M., Houlden, Henry, van den Berg, Leonard H., Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S., Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M., Sandvei, Marie Søfteland, Willer, Cristen J., Hveem, Kristian, Zwart, John-Anker, Verschuren, W. M. Monique, Friedrich, Christoph M., Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Jones, Gregory T., Bown, Matthew J., Ko, Nerissa U., Kim, Helen, Coleman, Jonathan R. I., Breen, Gerome, Zaroff, Jonathan G., Klijn, Catharina J. M., Malik, Rainer, Dichgans, Martin, Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel J. E., Worrall, Bradford B., Pera, Joanna, Slowik, Agnieszka, Gaál-Paavola, Emília I., Niemelä, Mika, Jääskeläinen, Juha E., von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P., Werring, David J., Woo, Daniel, Redon, Richard, Bijlenga, Philippe, Kamatani, Yoichiro, Veldink, Jan H., and Ruigrok, Ynte M.

Abstract

Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.

Published
2020
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