Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease | Zendy

Louise Stig Hornstrup | Zendy; Anne TybjærgHansen | Zendy; Christiane L. Haase | Zendy; Børge G. Nordestgaard | Zendy; Henrik Sillesen | Zendy; Peer Grande | Zendy; Ruth FrikkeSchmidt | Zendy

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Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease

Author(s) -

Louise Stig Hornstrup,

Anne TybjærgHansen,

Christiane L. Haase,

Børge G. Nordestgaard,

Henrik Sillesen,

Peer Grande,

Ruth FrikkeSchmidt

Publication year - 2011

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.110.958801

Subject(s) - medicine , vascular disease , myocardial infarction , population , genotype , cardiology , loss of heterozygosity , disease , stroke (engine) , pathology , allele , genetics , biology , mechanical engineering , environmental health , engineering , gene

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease. We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes.

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