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1. PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis

Author

Mola-Caminal, Marina, Carrera, Caty, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Díaz-Navarro, Rosa M., Tur, Sílvia, Jiménez, Carmen, Medina-Dols, Aina, Cullell, Natàlia, Torres-Aguila, Nuria P., Muiño, Elena, Rodríguez-Campello, Ana, Ois, Angel, Cuadrado-Godia, Elisa, Vivanco-Hidalgo, Rosa M., Hernandez-Guillamon, Mar, Solé, Montse, Delgado, Pilar, Bustamante, Alejandro, García-Berrocoso, Teresa, Mendióroz, Maite, Castellanos, Mar, Serena, Joaquín, Martí-Fàbregas, Joan, Segura, Tomás, Serrano-Heras, Gemma, Obach, Victor, Ribó, Marc, Molina, Carlos A., Alvarez-Sabín, José, Palomeras, Ernest, Freijo, Mar, Font, Maria A., Rosand, Jonathan, Rost, Natalia S., Gallego-Fabrega, Cristina, Lee, Jin-Moo, Heitsch, Laura, Ibanez, Laura, Cruchaga, Carlos, Phuah, Chia-Ling, Lemmens, Robin, Thijs, Vincent, Lindgren, Arne, Maguire, Jane, Rannikmae, Kristiina, Sudlow, Catherine L., Jern, Christina, Stanne, Tara M., Lorentzen, Erik, Muñoz-Narbona, Lucía, Dávalos, Antonio, López-Cancio, Elena, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., Mitchell, Braxton D., Montaner, Joan, Roquer, Jaume, Krupinski, Jurek, Estivill, Xavier, Rabionet, Raquel, Vives-Bauzá, Cristòfol, Fernández-Cadenas, Israel, and Jiménez-Conde, Jordi

Published
2019
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2. Table_2_A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.XLSX

Author

Cárcel-Márquez, Jara, Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Nàtalia, Lledós, Miquel, Llucià-Carol, Laia, Sobrino, Tomás, Campos, Francisco, Castillo, José, Freijo-Guerrero, Maria del Mar, Arenillas, Juan F., Obach, Víctor, Álvarez-Sabín, José, Molina, Carlos A., Ribó, Marc, Jiménez-Conde, Jordi, Roquer, Jaume, Muñoz-Narbona, Lucía, López-Cancio, Elena, Millán, Mónica, Díaz-Navarro, Rosa M., Vives-Bauzá, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Ibáñez, Laura, Heitsch, Laura, Delgado, Pilar, Dhar, Rajat, Krupinski, Jerzy, Delgado-Mederos, Raquel, Prats-Sánchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Cid, Rafael de, Montaner, Joan, Cruchaga, Carlos, Lee, Jin-Moo, Marti-Fabregas, Joan, Fernández-Cadenas, Israel, Cárcel-Márquez, Jara, Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Nàtalia, Lledós, Miquel, Llucià-Carol, Laia, Sobrino, Tomás, Campos, Francisco, Castillo, José, Freijo-Guerrero, Maria del Mar, Arenillas, Juan F., Obach, Víctor, Álvarez-Sabín, José, Molina, Carlos A., Ribó, Marc, Jiménez-Conde, Jordi, Roquer, Jaume, Muñoz-Narbona, Lucía, López-Cancio, Elena, Millán, Mónica, Díaz-Navarro, Rosa M., Vives-Bauzá, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Ibáñez, Laura, Heitsch, Laura, Delgado, Pilar, Dhar, Rajat, Krupinski, Jerzy, Delgado-Mederos, Raquel, Prats-Sánchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Cid, Rafael de, Montaner, Joan, Cruchaga, Carlos, Lee, Jin-Moo, Marti-Fabregas, Joan, and Fernández-Cadenas, Israel

Abstract

[Background] Occult atrial fibrillation (AF) is one of the major causes of embolic stroke of undetermined source (ESUS). Knowing the underlying etiology of an ESUS will reduce stroke recurrence and/or unnecessary use of anticoagulants. Understanding cardioembolic strokes (CES), whose main cause is AF, will provide tools to select patients who would benefit from anticoagulants among those with ESUS or AF. We aimed to discover novel loci associated with CES and create a polygenetic risk score (PRS) for a more efficient CES risk stratification., [Methods] Multitrait analysis of GWAS (MTAG) was performed with MEGASTROKE-CES cohort (n = 362,661) and AF cohort (n = 1,030,836). We considered significant variants and replicated those variants with MTAG p-value < 5 × 10−8 influencing both traits (GWAS-pairwise) with a p-value < 0.05 in the original GWAS and in an independent cohort (n = 9,105). The PRS was created with PRSice-2 and evaluated in the independent cohort., [Results] We found and replicated eleven loci associated with CES. Eight were novel loci. Seven of them had been previously associated with AF, namely, CAV1, ESR2, GORAB, IGF1R, NEURL1, WIPF1, and ZEB2. KIAA1755 locus had never been associated with CES/AF, leading its index variant to a missense change (R1045W). The PRS generated has been significantly associated with CES improving discrimination and patient reclassification of a model with age, sex, and hypertension., [Conclusion] The loci found significantly associated with CES in the MTAG, together with the creation of a PRS that improves the predictive clinical models of CES, might help guide future clinical trials of anticoagulant therapy in patients with ESUS or AF.

Published
2022

3. A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype

Author

National Institutes of Health (US), National Cancer Institute (US), National Human Genome Research Institute (US), National Heart, Lung, and Blood Institute (US), National Institute on Drug Abuse (US), National Institute of Mental Health (US), National Institute of Neurological Disorders and Stroke (US), Cárcel-Márquez, Jara, Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Nàtalia, Lledós, Miquel, Llucià-Carol, Laia, Sobrino, Tomás, Campos, Francisco, Castillo, José, Freijo-Guerrero, Maria del Mar, Arenillas, Juan F., Obach, Víctor, Álvarez-Sabín, José, Molina, Carlos A., Ribó, Marc, Jiménez-Conde, Jordi, Roquer, Jaume, Muñoz-Narbona, Lucía, López-Cancio, Elena, Millán, Mónica, Díaz-Navarro, Rosa M., Vives-Bauzá, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Ibáñez, Laura, Heitsch, Laura, Delgado, Pilar, Dhar, Rajat, Krupinski, Jerzy, Delgado-Mederos, Raquel, Prats-Sánchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Cid, Rafael de, Montaner, Joan, Cruchaga, Carlos, Lee, Jin-Moo, Marti-Fabregas, Joan, Fernández-Cadenas, Israel, National Institutes of Health (US), National Cancer Institute (US), National Human Genome Research Institute (US), National Heart, Lung, and Blood Institute (US), National Institute on Drug Abuse (US), National Institute of Mental Health (US), National Institute of Neurological Disorders and Stroke (US), Cárcel-Márquez, Jara, Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Nàtalia, Lledós, Miquel, Llucià-Carol, Laia, Sobrino, Tomás, Campos, Francisco, Castillo, José, Freijo-Guerrero, Maria del Mar, Arenillas, Juan F., Obach, Víctor, Álvarez-Sabín, José, Molina, Carlos A., Ribó, Marc, Jiménez-Conde, Jordi, Roquer, Jaume, Muñoz-Narbona, Lucía, López-Cancio, Elena, Millán, Mónica, Díaz-Navarro, Rosa M., Vives-Bauzá, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Ibáñez, Laura, Heitsch, Laura, Delgado, Pilar, Dhar, Rajat, Krupinski, Jerzy, Delgado-Mederos, Raquel, Prats-Sánchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Cid, Rafael de, Montaner, Joan, Cruchaga, Carlos, Lee, Jin-Moo, Marti-Fabregas, Joan, and Fernández-Cadenas, Israel

Abstract

Occult atrial fibrillation (AF) is one of the major causes of embolic stroke of undetermined source (ESUS). Knowing the underlying etiology of an ESUS will reduce stroke recurrence and/or unnecessary use of anticoagulants. Understanding cardioembolic strokes (CES), whose main cause is AF, will provide tools to select patients who would benefit from anticoagulants among those with ESUS or AF. We aimed to discover novel loci associated with CES and create a polygenetic risk score (PRS) for a more efficient CES risk stratification.

Published
2022

4. A Genome-Wide Meta-Analysis

Author

Mola-Caminal, Marina, Carrera, Caty, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Díaz-Navarro, Rosa M., Tur, Sílvia, Jiménez, Carmen, Medina-Dols, Aina, Cullell, Nàtalia, Torres-Águila, Nuria P., Muiño, Elena, Rodríguez-Campello, Ana, Ois, Ángel, Cuadrado-Godia, Elisa, Vivanco-Hidalgo, Rosa M., Hernández-Guillamón, Mar, Solé, Montse, Delgado, Pilar, Bustamante, Alejandro, García-Berrocoso, Teresa, Mendióroz, Maite, Castellanos, Mar, Serena, Joaquín, Marti-Fabregas, Joan, Segura, Tomás, Serrano-Heras, Gemma, Obach, Víctor, Ribó, Marc, Molina, Carlos A., Álvarez-Sabín, José, Palomeras, Ernest, Freijo, Mar, Font, Maria A., Rosand, Jonathan, Rost, Natalia S., Gallego-Fabrega, Cristina, Lee, Jin-Moo, Heitsch, Laura, Ibáñez, Laura, Cruchaga, Carlos, Phuah, Chia-Ling, Lemmens, Robin, Thijs, Vincent, Lindgren, Arne, Maguire, Jane, Rannikmae, Kistiina, Sudlow, Catherine L., Jern, Christina, Stanne, Tara M., Lorentzen, Erik, Muñoz-Narbona, Lucía, Dávalos, Antonio, López-Cancio, Elena, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., Mitchell, Braxton D., Montaner, Joan, Roquer, Jaume, Krupinski, Jurek, Estivill, Xavier, Rabionet, Raquel, Vives-Bauzá, Cristòfol, Fernández-Cadenas, Israel, Jiménez-Conde, Jordi, Fundació La Marató de TV3, Instituto de Salud Carlos III, National Institutes of Health (US), and National Institute of Neurological Disorders and Stroke (US)

Subjects
Allele, Genome-wide association study, Ischemic stroke, Genetic loci, cardiovascular diseases, Genetic variant
Abstract

[Rationale] Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to genetic factors but no locus has been consistently associated with stroke outcome., [Objective] Our aim was to identify genetic loci influencing the recovery process using accurate phenotyping to produce the largest GWAS (genome-wide association study) in ischemic stroke recovery to date., [Methods and Results] A 12-cohort, 2-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent ischemic stroke cases. Functional outcome was recorded using 3-month modified Rankin Scale. Analyses were adjusted for confounders such as discharge National Institutes of Health Stroke Scale. A gene-based burden test was performed. The discovery phase (n=1225) was followed by open (n=2482) and stringent joint-analyses (n=1791). Those cohorts with modified Rankin Scale recorded at time points other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, β=0.40, P=1.70×10−9)., [Conclusions] Our results identify a set of common variants in PATJ gene associated with 3-month functional outcome at genome-wide significance level. Future studies should examine the role of PATJ in stroke recovery and consider stringent phenotyping to enrich the information captured to unveil additional stroke outcome loci., Genetic contribution to functional outcome and disability after stroke (GODS) project, Fundació Marató-TV3 Grant 2011 (76/C/2011), Recercaixa’13; Generación Project, Instituto de Salud Carlos III; GENISIS (Genetics of Early Neurological InStability After Ischemic Stroke) project, National Institutes of Health (NIH); National Institute of Neurological Disorders and Stroke Stroke Genetics Network (SiGN) Project, NIH.

Published
2019

5. A Genome-Wide Meta-Analysis

Author

Mola-Caminal, Marina, Carrera, Caty, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Díaz-Navarro, Rosa M., Tur, Sílvia, Jiménez, Carmen, Medina-Dols, Aina, Cullell, Nàtalia, Torres-Águila, Nuria P., Muiño, Elena, Rodríguez-Campello, Ana, Ois, Ángel, Cuadrado-Godia, Elisa, Vivanco-Hidalgo, Rosa M., Hernández-Guillamón, Mar, Solé, Montse, Delgado, Pilar, Bustamante, Alejandro, García-Berrocoso, Teresa, Mendióroz, Maite, Castellanos, Mar, Serena, Joaquín, Marti-Fabregas, Joan, Segura, Tomás, Serrano-Heras, Gemma, Obach, Víctor, Ribó, Marc, Molina, Carlos A., Álvarez-Sabín, José, Palomeras, Ernest, Freijo, Mar, Font, Maria A., Rosand, Jonathan, Rost, Natalia S., Gallego-Fabrega, Cristina, Lee, Jin-Moo, Heitsch, Laura, Ibáñez, Laura, Cruchaga, Carlos, Phuah, Chia-Ling, Lemmens, Robin, Thijs, Vincent, Lindgren, Arne, Maguire, Jane, Rannikmae, Kistiina, Sudlow, Catherine L., Jern, Christina, Stanne, Tara M., Lorentzen, Erik, Muñoz-Narbona, Lucía, Dávalos, Antonio, López-Cancio, Elena, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., Mitchell, Braxton D., Montaner, Joan, Roquer, Jaume, Krupinski, Jurek, Estivill, Xavier, Rabionet, Raquel, Vives-Bauzá, Cristòfol, Fernández-Cadenas, Israel, Jiménez-Conde, Jordi, Fundació La Marató de TV3, Instituto de Salud Carlos III, National Institutes of Health (US), and National Institute of Neurological Disorders and Stroke (US)

Subjects
genetic variant, genome-wide association study, Tight Junction Proteins, allele, Stroke Rehabilitation, genetic loci, Recovery of Function, Polymorphism, Single Nucleotide, Brain Ischemia, Stroke, Disability Evaluation, Phenotype, Treatment Outcome, Gene Frequency, Risk Factors, ischemic stroke, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study
Abstract

[Rationale] Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to genetic factors but no locus has been consistently associated with stroke outcome. [Objective] Our aim was to identify genetic loci influencing the recovery process using accurate phenotyping to produce the largest GWAS (genome-wide association study) in ischemic stroke recovery to date. [Methods and Results] A 12-cohort, 2-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent ischemic stroke cases. Functional outcome was recorded using 3-month modified Rankin Scale. Analyses were adjusted for confounders such as discharge National Institutes of Health Stroke Scale. A gene-based burden test was performed. The discovery phase (n=1225) was followed by open (n=2482) and stringent joint-analyses (n=1791). Those cohorts with modified Rankin Scale recorded at time points other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, β=0.40, P=1.70×10−9). [Conclusions] Our results identify a set of common variants in PATJ gene associated with 3-month functional outcome at genome-wide significance level. Future studies should examine the role of PATJ in stroke recovery and consider stringent phenotyping to enrich the information captured to unveil additional stroke outcome loci. Genetic contribution to functional outcome and disability after stroke (GODS) project, Fundació Marató-TV3 Grant 2011 (76/C/2011), Recercaixa’13; Generación Project, Instituto de Salud Carlos III; GENISIS (Genetics of Early Neurological InStability After Ischemic Stroke) project, National Institutes of Health (NIH); National Institute of Neurological Disorders and Stroke Stroke Genetics Network (SiGN) Project, NIH.

Published
2018

6. Genome-Wide Association Study of White Blood Cell Counts in Patients With Ischemic Stroke

Author

Torres-Águila, Nuria P., Carrera, Caty, Giese, Anne-Katrine, Cullell, Nàtalia, Muiño, Elena, Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, González-Sánchez, Jonathan, Freijo, Mar, Álvarez-Sabín, José, Molina, Carlos A., Ribó, Marc, Jiménez-Conde, Jordi, Roquer, Jaume, Sobrino, Tomás, Campos-Rodríguez, Francisco, Castillo, José, Muñoz-Narbona, Lucía, López-Cancio, Elena, Dávalos, Antonio, Díaz-Navarro, Rosa M., Tur, Sílvia, Vives-Bauzá, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Krupinski, Jerzy, Delgado-Mederos, Raquel, Marti-Fabregas, Joan, Heitsch, Laura, Ibáñez, Laura, Cruchaga, Carlos, Rost, Natalia S., Montaner, Joan, Torres-Águila, Nuria P., Carrera, Caty, Giese, Anne-Katrine, Cullell, Nàtalia, Muiño, Elena, Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, González-Sánchez, Jonathan, Freijo, Mar, Álvarez-Sabín, José, Molina, Carlos A., Ribó, Marc, Jiménez-Conde, Jordi, Roquer, Jaume, Sobrino, Tomás, Campos-Rodríguez, Francisco, Castillo, José, Muñoz-Narbona, Lucía, López-Cancio, Elena, Dávalos, Antonio, Díaz-Navarro, Rosa M., Tur, Sílvia, Vives-Bauzá, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Krupinski, Jerzy, Delgado-Mederos, Raquel, Marti-Fabregas, Joan, Heitsch, Laura, Ibáñez, Laura, Cruchaga, Carlos, Rost, Natalia S., and Montaner, Joan

Abstract

[Background and Purpose] Immune cells play a key role in the first 24h poststroke (acute phase), being associated with stroke outcome. We aimed to find genetic risk factors associated with leukocyte counts during the acute phase of stroke., [Methods] Ischemic stroke patients with leukocyte counts data during the first 24h were included. Genome-wide association study and gene expression studies were performed., [Results] Our genome-wide association study, which included 2064 (Discovery) and 407 (Replication) patients, revealed a new locus (14q24.3) associated with leukocyte counts. After Joint analysis (n=2471) 5 more polymorphisms reached genome-wide significance (P<5×10−8). The 14q24.3 locus was associated with acute stroke outcome (rs112809786, P=0.036) and with ACOT1 and PTGR2 gene expression. Previous polymorphisms associated with leukocyte counts in general-population did not show any significance in our study., [Conclusions] We have found the first locus associated with leukocyte counts in ischemic stroke, also associated with acute outcome. Genetic analysis of acute endophenotypes could be useful to find the genetic factors associated with stroke outcome. Our findings suggested a different modulation of immune cells in stroke compared with healthy conditions.

Published
2019

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