Evidence map›Paper›PMID 39298701›Full record

ArticleNeurology2024

Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach.

Elena Muiño, Jara Carcel-Marquez, Laia Llucià-Carol, Cristina Gallego-Fabrega, Natalia Cullell, Miquel Lledós, Jesús M Martín-Campos, Paula Villatoro-González, Alba Sierra-Marcos, Victoria Ros-Castelló and 3 more

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Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Elena MuiñoFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Jara Carcel-MarquezFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.ORCID 0000-0002-6949-0699
Laia Llucià-CarolFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Cristina Gallego-FabregaFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.ORCID 0000-0003-3229-5512
Natalia CullellFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Miquel LledósFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Jesús M Martín-CamposFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.ORCID 0000-0003-0414-037X
Paula Villatoro-GonzálezFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Alba Sierra-MarcosFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Victoria Ros-CastellóFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Ana Aguilera-SimónFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.
Joan Marti-FabregasFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.ORCID 0000-0001-9229-8649
Israel Fernandez-CadenasFrom the Stroke Pharmacogenomics and Genetics Group (E.M., J.C.-M., L.L.-C., C.G.-F., N.C., M.L.L., J.M.M.-C., P.V.-G., I.F.-C.), Biomedical Research Institute Sant Pau (IIB SANT PAU); Epilepsy Unit (E.M., A.S.-M., V.R.-C.), Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona; Stroke Pharmacogenomics and Genetics (N.C.), Fundació MútuaTerrassa per la Docència i la Recerca; and Department of Neurology (C.G.-F., A.A.-S., J.M.-F.), Hospital de la Santa Creu i Sant Pau, IIB SANT PAU, Barcelona, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesGenome-wide association studies (GWASs) have only 2 loci associated with spontaneous intracerebral hemorrhage (ICH):

methodsWe use the published MTAG of ICH (patients with spontaneous intraparenchymal bleeding) and small-vessel ischemic stroke. For all ICH, lobar ICH, and nonlobar ICH, a pairwise MTAG combined ICH with traits related to cardiovascular risk factors, cerebrovascular diseases, or Alzheimer disease (AD). For the analysis, we assembled those traits with a genetic correlation ≥0.3. A new MTAG combining multiple traits was performed with those traits whose pairwise MTAG yielded new GWAS-significant single nucleotide polymorphisms (SNPs), with a posterior-probability of model 3 (GWAS-pairwise) ≥0.6. We perform TWAS and PWAS that correlate the genetic component of expression or protein levels with the genetic component of a trait. We use the ICH cohort from UK Biobank as replication.

resultsFor all ICH (1,543 ICH, 1,711 controls), the mean age was 72 ± 2 in cases and 70 ± 2 in controls, and half of them were women. Replication cohort: 700 ICH and 399,717 controls. Novel loci were found only for all ICH (the trait containing lobar and nonlobar ICH), combining data of ICH and small vessel stroke, white matter hyperintensities volume, fractional anisotropy, mean diffusivity, and AD. We replicated 6 SNPs belonging to 2q33.2 ( DISCUSSION: Our results reinforce the role of

Indexed as

Cerebral HemorrhageGenome-Wide Association StudyPolymorphism, Single NucleotideAgedFemaleGenetic LociGenetic Predisposition to DiseaseHumansIschemic StrokeMaleTranscriptome

Identifiers

PMID39298701
PMCPMC11446162

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