A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

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...

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Bibliographic Details
Published in:	BMC medical genomics Vol. 7; no. 1; p. 17
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	England BioMed Central 07-04-2014 BioMed Central Ltd
Subjects:	Adult Case-Control Studies Cholesterol Cholesterol, LDL - genetics Female Gene Frequency - genetics Genetic Predisposition to Disease Hep G2 Cells Humans Hypercholesterolemia - genetics Linear Models Low density lipoprotein Male Middle Aged Multivariate Analysis Mutation Polymorphism, Single Nucleotide - genetics Promoter Regions, Genetic Receptors, LDL - genetics Rodents
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