RT Journal Article
T1 PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.
A1 Mola-Caminal, Marina
A1 Carrera, Caty
A1 Soriano-Tarraga, Carolina
A1 Giralt-Steinhauer, Eva
A1 Diaz-Navarro, Rosa M
A1 Tur, Silvia
A1 Jimenez, Carmen
A1 Medina-Dols, Aina
A1 Cullell, Natalia
A1 Torres-Aguila, Nuria P
A1 Muiño, Elena
A1 Rodriguez-Campello, Ana
A1 Ois, Angel
A1 Cuadrado-Godia, Elisa
A1 Vivanco-Hidalgo, Rosa M
A1 Hernandez-Guillamon, Mar
A1 Sole, Montse
A1 Delgado, Pilar
A1 Bustamante, Alejandro
A1 Garcia-Berrocoso, Teresa
A1 Mendioroz, Maite
A1 Castellanos, Mar
A1 Serena, Joaquin
A1 Marti-Fabregas, Joan
A1 Segura, Tomas
A1 Serrano-Heras, Gemma
A1 Obach, Victor
A1 Ribo, Marc
A1 Molina, Carlos A
A1 Alvarez-Sabin, Jose
A1 Palomeras, Ernest
A1 Freijo, Mar
A1 Font, Maria A
A1 Rosand, Jonathan
A1 Rost, Natalia S
A1 Gallego-Fabrega, Cristina
A1 Lee, Jin-Moo
A1 Heitsch, Laura
A1 Ibanez, Laura
A1 Cruchaga, Carlos
A1 Phuah, Chia-Ling
A1 Lemmens, Robin
A1 Thijs, Vincent
A1 Lindgren, Arne
A1 Maguire, Jane
A1 Rannikmae, Kristiina
A1 Sudlow, Catherine L
A1 Jern, Christina
A1 Stanne, Tara M
A1 Lorentzen, Erik
A1 Muñoz-Narbona, Lucia
A1 Davalos, Antonio
A1 Lopez-Cancio, Elena
A1 Worrall, Bradford B
A1 Woo, Daniel
A1 Kittner, Steven J
A1 Mitchell, Braxton D
A1 Montaner, Joan
A1 Roquer, Jaume
A1 Krupinski, Jurek
A1 Estivill, Xavier
A1 Rabionet, Raquel
A1 Vives-Bauza, Cristofol
A1 Fernandez-Cadenas, Israel
A1 Jimenez-Conde, Jordi
K1 allele
K1 genetic loci
K1 genetic variant
K1 genome-wide association study
K1 ischemic stroke
AB 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. 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. 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). 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.
PB Lippincott Williams & Wilkins
YR 2019
FD 2019-01-04
LK http://hdl.handle.net/10668/13354
UL http://hdl.handle.net/10668/13354
LA en
NO Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt-Steinhauer E, Díaz-Navarro RM, Tur S, et al. PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome. Circ Res. 2019 Jan 4;124(1):114-120.
DS RISalud
RD Jul 4, 2025