Trabetti Elisabetta, Biscuola Michele, Cavallari Ugo, Malerba Giovanni, Girelli Domenico, Olivieri Oliviero, Martinelli Nicola, Corrocher Roberto, Pignatti Pier Franco
Department of Mother and Child and of Biology-Genetics, Section of Biology and Genetics, University of Verona, Verona, Italy.
Eur J Hum Genet. 2006 Jan;14(1):127-30. doi: 10.1038/sj.ejhg.5201513.
The human oxidised low-density lipoprotein receptor 1 (OLR1) gene is a functional candidate for atherosclerosis. An association of the OLR1 gene with acute myocardial infarction (AMI) or coronary artery disease (CAD) has recently been reported. In the present study a total of 677 Italian subjects, 327 CAD-free, 350 CAD, of which 190 with AMI and 160 AMI-free, was genotyped for the following four OLR1 single nucleotide polymorphisms: exon 4 K167N, IVS4 -73C>T, IVS4 -14A>G, and 3'UTR 188 C>T. No statistically significant difference was observed in allele or genotype distribution of the exon 4, intron 4, or 3'UTR SNPs in CAD patients compared to CAD-free subjects, or within CAD, in AMI patients compared to AMI-free patients. A correlation was found between the K167N G/G genotype and the increased number of obstructed vessels. Even if the OLR1 genotype frequency distribution data in CAD or AMI subjects here reported do not fully confirm the positive results of some other association studies, an association with a marker of CAD severity was observed.
人类氧化型低密度脂蛋白受体1（OLR1）基因是动脉粥样硬化的一个功能性候选基因。最近有报道称OLR1基因与急性心肌梗死（AMI）或冠状动脉疾病（CAD）有关联。在本研究中，对总共677名意大利受试者进行了基因分型，其中327名无CAD，350名有CAD，后者中190名患有AMI，160名无AMI，检测了以下四个OLR1单核苷酸多态性：外显子4 K167N、内含子4 -73C>T、内含子4 -14A>G和3'非翻译区188 C>T。与无CAD受试者相比，CAD患者中外显子4、内含子4或3'非翻译区单核苷酸多态性的等位基因或基因型分布，以及在CAD患者中，与无AMI患者相比，AMI患者中的等位基因或基因型分布，均未观察到统计学上的显著差异。发现K167N G/G基因型与阻塞血管数量增加之间存在相关性。即使此处报道的CAD或AMI受试者中的OLR1基因型频率分布数据并未完全证实其他一些关联研究的阳性结果，但观察到了与CAD严重程度标志物的关联。
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