Please use this identifier to cite or link to this item:
Title: PATJ low frequency variants are associated with worse ischemic stroke functional outcome: a genome-wide meta-analysis
Author: Mola Caminal, Marina
Carrera, Caty
Soriano Tarraga, Carolina
Giralt Steinhauer, Eva
Diaz-Navarro, Rosa M.
Tur, Silvia
Jimenez, Carmen
Medina-Dols, Aina
Cullell, Natalia
Torres Águila, Nuria Paz
Muino, Elena
Rodriguez-Campello, Ana
Ois, Angel
Cuadrado-Godia, Elisa
Vivanco Hidalgo, Rosa Maria
Hernandez-Guillamon, Mar
Sol, Montse
Delgado, Pilar
Bustamante, Alejandro
Garcia-Berrocoso, Teresa
Mendioroz, Maite
Castellanos, Mar
Serena, Joaquín
Marti-Fabregas, Joan
Segura, Tomas
Serrano-Heras, Gemma
Obach, Víctor
Rib, Marc
Molina, Carlos A.
Alvarez-Sabin, Jose
Palomeras, Ernest
Freijo, Mar
Font, Maria A.
Rosand, Jonathan
Rost, Natalia S.
Gallego Fàbrega, Cristina
Lee, Jin-Moo
Heitsch, Laura
Ibanez, Laura
Rabionet Janssen, Raquel
Keywords: Discapacitats
Isquèmia cerebral
People with disabilities
Cerebral ischemia
Issue Date: 4-Jan-2019
Publisher: Lippincott, Williams & Wilkins
Abstract: Rationale: Ischemic stroke (IS) 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 genome-wide association study (GWAS) in IS recovery to date. Methods and Results: A 12-cohort, two-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent IS cases. Functional outcome was recorded using 3-month modified Rankin Scale (mRS). Analyses were adjusted for confounders such as discharge NIHSS. A gene-based burden test was performed. The discovery phase (n=1,225) was followed by open (n=2,482) and stringent joint-analyses (n=1,791). Those cohorts with mRS recorded at timepoints other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, beta=0·40, p=1·70x10-9). 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.
Note: Versió postprint del document publicat a:
It is part of: Circulation Research, 2019, vol. 124, num. 1, p. 114-120
Related resource:
ISSN: 0009-7330
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

Files in This Item:
File Description SizeFormat 
689250.pdf1.21 MBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.