Department of Clinical Biochemistry and Pharmacology, Odense University Hospital , Odense , Denmark.
Centre for Individualized Medicine in Arterial Diseases, Odense University Hospital , Odense , Denmark.
Am J Physiol Heart Circ Physiol. 2018 Sep 1;315(3):H610-H625. doi: 10.1152/ajpheart.00070.2018. Epub 2018 Apr 20.
Over the past decade, studies have repeatedly found single-nucleotide polymorphisms located in the collagen ( COL) 4A1 and COL4A2 genes to be associated with cardiovascular disease (CVD), and the 13q34 locus harboring these genes is one of ~160 genome-wide significant risk loci for coronary artery disease. COL4A1 and COL4A2 encode the α- and α-chains of collagen type IV, a major component of basement membranes in various tissues including arteries. Despite the growing body of evidence indicating a role for collagen type IV in CVD, remarkably few studies have aimed to directly investigate such a role. The purpose of this review is to summarize the clinical reports linking 13q34 to coronary artery disease, atherosclerosis, and artery stiffening and to assemble the scattered pieces of evidence from experimental studies based on vascular cells and tissue collectively supporting a role for collagen type IV in atherosclerosis and other macrovascular disease conditions.
在过去的十年中，研究反复发现位于胶原蛋白 (COL) 4A1 和 COL4A2 基因中的单核苷酸多态性与心血管疾病 (CVD) 相关，而包含这些基因的 13q34 基因座是约 160 个全基因组显著冠心病风险位点之一。COL4A1 和 COL4A2 编码 IV 型胶原蛋白的 α-和 α-链，IV 型胶原蛋白是各种组织（包括动脉）基底膜的主要成分。尽管越来越多的证据表明 IV 型胶原蛋白在 CVD 中的作用，但很少有研究旨在直接研究这种作用。本综述的目的是总结将 13q34 与冠状动脉疾病、动脉粥样硬化和动脉僵硬联系起来的临床报告，并汇集基于血管细胞和组织的实验研究中分散的证据，这些证据共同支持 IV 型胶原蛋白在动脉粥样硬化和其他大血管疾病中的作用。
