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5. Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease.

Author

Hornstrup, Louise S., Tybjaærg-Hansen, Anne, Haase, Christiane L., Nordestgaard, Børge G., Sillesen, Henrik, Grande, Peer, and Frikke-Schmidt, Ruth

Subjects
HETEROZYGOSITY, CARDIOVASCULAR diseases, ISCHEMIA, MYOCARDIAL infarction, STROKE
Abstract

The article presents a study that examined the association between heterozygosity for R1141X with risk of ischemic vascular disease (IHD). The study covered 10, 276 persons from the general population, including 1985 with IHD and 989 with ischemic cerebrovascular disease (ICVD). It downplayed the association between heterozygosity for ABCC6 R1141X and risk of IHD, myocardial infarction, ICVD, or ischemic stroke.

Published
2011
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6. Heterozygosity for R1141X in ABCC6and Risk of Ischemic Vascular Disease

Author

Hornstrup, Louise S., Tybjærg-Hansen, Anne, Haase, Christiane L., Nordestgaard, Børge G., Sillesen, Henrik, Grande, Peer, and Frikke-Schmidt, Ruth

Abstract

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.

Published
2011
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