IP: Dra. Lina Badimón Maestro

Resumen del proyecto: Heterozygous familiar hypercholesterolemia (hFH) is among the most common inherited disorders and is characterized by severely elevated LDL-cholesterol levels and premature atherosclerotic disease. Genetic alterations of the classical LDL-receptor gene are the main cause of this disease. However, there is a substantial variation in the onset and severity of atherosclerosis in the hFH disease phenotype, that might be due to environmental, metabolic and genetic factors. LDL-receptor-related protein (LRP1) is a multiligand binding protein that play a pivotal role in the atherotrombotic transformation of vascular cells. The aim of this study was to analyse the role of LRP1gene in the modulation of the phenotypic expression of several symptoms of hFH in patients of the Spanish Network onf hFH. The promoter region and 5’ flanking region of LRP1 (base -1318 to + 470) have been analysed in a sample of 100 hFH patients to screen for new polymorphisms that could affect the gene transcription activity. Then, the relevant polymorphism found in the promoter region together with 9 SNPs (rs715948, rs1799986, rs1800127, rs7968719, rs1800176, rs1800194, rs1800181, rs1140648, rs1800164) distributed along the whole gene will be used in an association study between genetic polymorphisms and phenotypic expression in 364 hFH patients.

Entidad financiadora: Instituto de la Salud Carlos III (red FIS) Y Plan Nacional Consolider