氧化低密度脂蛋白受体1（OLR1）基因分型：一种心血管疾病的基因组生物标志物。
Genotyping OLR1 gene: a genomic biomarker for cardiovascular diseases.
作者信息
Vecchione Lucia, Gargiul Elisa, Borgiani Paola, Predazzi Irene, Mango Ruggiero, Romeo Francesco, Magnani Mauro, Novelli Giuseppe
机构信息
Department 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.
出版信息
Recent Pat Cardiovasc Drug Discov. 2007 Jun;2(2):147-51. doi: 10.2174/157489007780832506.
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.
人凝集素样氧化低密度脂蛋白受体1（LOX-1）由OLR1基因编码，是一种清道夫受体，与动脉粥样硬化的发病机制有关。LOX-1激活是导致斑块不稳定及随后急性冠状动脉综合征发生的重要机制。关联研究表明OLR1基因变异与心肌梗死（MI）易感性有关。特别是，我们之前证明与心肌梗死易感性相关的内含子单核苷酸多态性（SNP）可调节OLR1基因一种名为LOXIN的新的功能性剪接异构体的表达。携带风险单倍型的受试者中OLR1/LOXIN mRNA的比率会升高。在此基础上，我们开发了一种名为“LOXIN检测”的基因检测试剂盒，可快速鉴定ORL1基因型，从而确定动脉粥样硬化和心肌梗死的易感性风险。本文还讨论了与OLR1、SNP和LOXIN相关的近期专利。
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