编码磷酸二酯酶4D的基因会增加缺血性中风的风险。
The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.
作者信息
Gretarsdottir Solveig, Thorleifsson Gudmar, Reynisdottir Sigridur Th, Manolescu Andrei, Jonsdottir Sif, Jonsdottir Thorbjörg, Gudmundsdottir Thorunn, Bjarnadottir Sigrun M, Einarsson Olafur B, Gudjonsdottir Herdis M, Hawkins Malcolm, Gudmundsson Gudmundur, Gudmundsdottir Hrefna, Andrason Hjalti, Gudmundsdottir Asta S, Sigurdardottir Matthildur, Chou Thomas T, Nahmias Joseph, Goss Shyamali, Sveinbjörnsdottir Sigurlaug, Valdimarsson Einar M, Jakobsson Finnbogi, Agnarsson Uggi, Gudnason Vilmundur, Thorgeirsson Gudmundur, Fingerle Jurgen, Gurney Mark, Gudbjartsson Daniel, Frigge Michael L, Kong Augustine, Stefansson Kari, Gulcher Jeffrey R
机构信息
deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.
出版信息
Nat Genet. 2003 Oct;35(2):131-8. doi: 10.1038/ng1245. Epub 2003 Sep 21.
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.
我们先前已将中风易感性定位到染色体5q12。在此，我们对该基因座进行了精细定位，并测试其与中风的关联性。我们发现，在编码磷酸二酯酶4D（PDE4D）的基因中存在最强的关联性，尤其是对于颈动脉和心源性中风，即与动脉粥样硬化相关的中风类型。值得注意的是，我们发现单倍型可分为三个不同的组：野生型、风险型和保护型。我们还观察到，在受影响个体中多种PDE4D亚型存在明显的失调。我们提出，PDE4D可能通过动脉粥样硬化参与中风的发病机制，而动脉粥样硬化是缺血性中风的主要病理过程。
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