The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Gretarsdottir S,Thorleifsson G,Reynisdottir ST,Manolescu A,Jonsdottir S,Jonsdottir T,Gudmundsdottir T,Bjarnadottir SM,Einarsson OB,Gudjonsdottir HM,Hawkins M,Gudmundsson G,Gudmundsdottir H,Andrason H,Gudmundsdottir AS,Sigur

doi

10.1038/ng1245

keywords:

subject

Has Abstract

pub_date

2003-10-01 00:00:00

pages

131-8

issue

2

eissn

1061-4036

issn

1546-1718

pii

ng1245

journal_volume

35

pub_type

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