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COL4A2 is associate...
COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.
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- Rannikmäe, Kristiina (author)
- University of Edinburgh
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- Sivakumaran, Vhinoth (author)
- University of Edinburgh
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- Millar, Henry (author)
- University of Edinburgh
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- Malik, Rainer (author)
- University of Edinburgh
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- Anderson, Christopher D (author)
- Massachusetts General Hospital
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- Chong, Mike (author)
- Broad Institute
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- Dave, Tushar (author)
- Population Health Research Institute, Ontario
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- Falcone, Guido J (author)
- University of Maryland School of Medicine
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- Fernandez-Cadenas, Israel (author)
- Yale University
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- Jimenez-Conde, Jordi (author)
- Autonomous University of Barcelona
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- Lindgren, Arne (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Stroke Research Group,Lund University Research Groups
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- Montaner, Joan (author)
- Skåne University Hospital
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- O'Donnell, Martin (author)
- Broad Institute,Autonomous University of Barcelona
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- Paré, Guillaume (author)
- Broad Institute
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- Radmanesh, Farid (author)
- Massachusetts General Hospital
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- Rost, Natalia S (author)
- Massachusetts General Hospital,University Medical Center Utrecht
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- Slowik, Agnieszka (author)
- National University of Ireland Galway
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- Söderholm, Martin (author)
- Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups
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- Traylor, Matthew (author)
- Lund University
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- Pulit, Sara L (author)
- University of Cambridge
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- Seshadri, Sudha (author)
- Lund University
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Worrall, Brad B (author)
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- Woo, Daniel (author)
- University of Virginia
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Markus, Hugh S (author)
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- Mitchell, Braxton D (author)
- University of Cincinnati College of Medicine,Broad Institute
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- Dichgans, Martin (author)
- Munich Cluster for Systems Neurology,University of Edinburgh
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- Rosand, Jonathan (author)
- Massachusetts General Hospital
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- Sudlow, Cathie L M (author)
- University of Edinburgh
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- Jood, Katarina, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience
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(creator_code:org_t)
- 2017
- 2017
- English.
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In: Neurology. - 1526-632X .- 0028-3878. ; 89:17, s. 1829-1839
- Related links:
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD.We meta-analyzed genotype data from individuals of European ancestry to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (COL4A1, COL4A2, NOTCH3, HTRA1, TREX1, and CECR1) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls). We applied data quality filters and set statistical significance thresholds accounting for linkage disequilibrium and multiple testing.A locus in COL4A2 was associated (significance threshold p < 3.5 × 10-4) with both lacunar IS (lead SNP rs9515201: odds ratio [OR] 1.17, 95% confidence interval [CI] 1.11-1.24, p = 6.62 × 10-8) and deep ICH (lead SNP rs4771674: OR 1.28, 95% CI 1.13-1.44, p = 5.76 × 10-5). A SNP in HTRA1 was associated (significance threshold p < 5.5 × 10-4) with lacunar IS (rs79043147: OR 1.23, 95% CI 1.10-1.37, p = 1.90 × 10-4) and less robustly with deep ICH. There was no clear evidence for association of common variants in either COL4A2 or HTRA1 with non-SVD strokes or in any of the other genes with any stroke phenotype.These results provide evidence of shared genetic determinants and suggest common pathophysiologic mechanisms of distinct ischemic and hemorrhagic cerebral SVD stroke phenotypes, offering new insights into the causal mechanisms of cerebral SVD.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Cerebral Hemorrhage
- epidemiology
- genetics
- Collagen Type IV
- genetics
- Europe
- epidemiology
- Genetic Association Studies
- Humans
- Polymorphism
- Single Nucleotide
- genetics
- Stroke
- Lacunar
- epidemiology
- genetics
- COL4A2
- ischemic stroke
- ICH
Publication and Content Type
- ref (subject category)
- art (subject category)
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Neurology
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- By the author/editor
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Rannikmäe, Krist ...
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Sivakumaran, Vhi ...
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Millar, Henry
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Malik, Rainer
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Anderson, Christ ...
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Chong, Mike
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show more...
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Dave, Tushar
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Falcone, Guido J
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Fernandez-Cadena ...
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Jimenez-Conde, J ...
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Lindgren, Arne
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Montaner, Joan
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O'Donnell, Marti ...
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Paré, Guillaume
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Radmanesh, Farid
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Rost, Natalia S
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Slowik, Agnieszk ...
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Söderholm, Marti ...
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Traylor, Matthew
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Pulit, Sara L
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Seshadri, Sudha
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Worrall, Brad B
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Woo, Daniel
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Markus, Hugh S
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Mitchell, Braxto ...
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Dichgans, Martin
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Rosand, Jonathan
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Sudlow, Cathie L ...
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Jood, Katarina, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Neurology
- By the university
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University of Gothenburg
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Lund University