Article
A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
BMC medical genomics - 7 Apr 2014
De Castro-Orós Isabel, Pérez-López Javier, Mateo-Gallego Rocio, Rebollar Soraya, Ledesma Marta, León Montserrat, Cofán Montserrat, Casasnovas Jose A, Ros Emilio, Rodríguez-Rey Jose C, Civeira Fernando, Pocoví Miguel
Abstract excerpt
BACKGROUND: GWAS have consistently revealed that LDLR locus variability influences LDL-cholesterol in general population. Severe LDLR mutations are responsible for familial hypercholesterolemia (FH). However, most primary hypercholesterolemias are polygenic diseases. Although Cis-regulatory regions might be the cause of LDL-cholesterol variability; an extensive analysis of the LDLR distal promoter has not yet...
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