The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.
Nat Genet
; 35(2): 131-8, 2003 Oct.
Article
en En
| MEDLINE
| ID: mdl-14517540
ABSTRACT
We previously mapped susceptibility to stroke to chromosome 5q12. Here we finely mapped this locus and tested it for association with stroke. We found the strongest association in the gene encoding phosphodiesterase 4D (PDE4D), especially for carotid and cardiogenic stroke, the forms of stroke related to atherosclerosis. Notably, we found that haplotypes can be classified into three distinct groups wild-type, at-risk and protective. We also observed a substantial disregulation of multiple PDE4D isoforms in affected individuals. We propose that PDE4D is involved in the pathogenesis of stroke, possibly through atherosclerosis, which is the primary pathological process underlying ischemic stroke.
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Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 5
/
Desequilibrio de Ligamiento
/
Isquemia Encefálica
/
3',5'-AMP Cíclico Fosfodiesterasas
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2003
Tipo del documento:
Article