Related Experiment Video
Updated: Jul 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genotyping OLR1 gene: a genomic biomarker for cardiovascular diseases
Lucia Vecchione1, Elisa Gargiul, Paola Borgiani
1Department of Biopathology and Diagnostic Imaging, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Tor Vergata, Rome, Italy.
Abstract:
The human lectin-like oxidized low-density lipoprotein receptor-1 (LOX-1), encoded by the OLR1 gene, is a scavenger receptor that has been implicated in the pathogenesis of atherosclerosis. LOX-1 activation is an important mechanism that contributes to plaque instability and subsequent development of acute coronary syndromes. Association studies have implicated OLR1 gene variants in myocardial infarction (MI) susceptibility. In particular, previously we demonstrated that intronic SNPs associated to susceptibility to myocardial infarction, regulate the expression of a new functional splicing isoform of the OLR1 gene, called LOXIN. The ratio OLR1/LOXIN mRNA is increased in subjects carrying the risk haplotype. On this basis, we developed a genetic kit named "LOXIN test" that allows the rapid identification of ORL1 genotypes and therefore establish the susceptibility risk to atherosclerosis and myocardial infarction. The recent patents related to OLR1, SNPs and LOXIN are also discussed in this article.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Blood Studies for Cardiovascular System I: Cardiac Biomarkers
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
Principles of Pharmacogenetics: Types of Genetic Variants
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Non-LTR Retrotransposons
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...