A Genetic Variant in the Seed Region of miR‐4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease. Issue 12 (December 2014)

• Record Type: Journal Article
• Authors: Ghanbari, Mohsen; de Vries, Paul S.; de Looper, Hans; Peters, Marjolein J.; Schurmann, Claudia; Yaghootkar, Hanieh; Dörr, Marcus; Frayling, Timothy M.; Uitterlinden, Andre G.; Hofman, Albert; van Meurs, Joyce B. J.; Erkeland, Stefan J.; Franco, Oscar H.; Dehghan, Abbas
• Is Part Of: Human mutation. Volume 35:Issue 12(2014:Dec.)
• Page Start: 1524
• Page End: 1531
• Publication Date: 2014-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22706
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22706-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this study, we found that rs2168518 in the seed region of miR‐4513 associates with fasting glucose, LDL‐cholesterol and total cholesterol, blood pressure and risk of coronary artery disease. We identified five miR‐4513 target genes, <italic>GOSR2</italic>, <italic>ANK3</italic>, <italic>PCSK1</italic>, <italic>BNC2</italic>, and <italic>MTMR3</italic>, as potential mediators of these associations. We showed two mechanisms through which the SNP affects miR‐4513 function: the mutant allele firstly decreases miR‐4513 expression (Fig. 1) and secondly reduces the ability of miR‐4513 to repress the target genes expression (Fig. 2). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cpxhv7k" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>