Journal
SCIENCE
Volume 315, Issue 5816, Pages 1278-1282Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1136370
Keywords
-
Categories
Funding
- NHLBI NIH HHS [P50 HL55007] Funding Source: Medline
- NIAMS NIH HHS [R01 AR051476-01A1, R01 AR051476-04, R01 AR051476, R01 AR051476-03, R01 AR051476-02] Funding Source: Medline
- NICHD NIH HHS [K08 HD041481, K08 HD041481-01] Funding Source: Medline
- NIDDK NIH HHS [P01DK68229] Funding Source: Medline
Ask authors/readers for more resources
Coronary artery disease ( CAD) is the leading cause of death worldwide and is commonly caused by a constellation of risk factors called the metabolic syndrome. We characterized a family with autosomal dominant early CAD, features of the metabolic syndrome (hyperlipidemia, hypertension, and diabetes), and osteoporosis. These traits showed genetic linkage to a short segment of chromosome 12p, in which we identified a missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway. The mutation, which substitutes cysteine for arginine at a highly conserved residue of an epidermal growth factor-like domain, impairs Wnt signaling in vitro. These results link a single gene defect in Wnt signaling to CAD and multiple cardiovascular risk factors.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available