Cardiovascular Center and Cardiology Division, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Korean Circ J. 2011 Jul;41(7):385-93. doi: 10.4070/kcj.2011.41.7.385. Epub 2011 Jul 30.
Vasospastic angina (VA) is a specific type of coronary artery disease and develops as a result of coronary artery spasm. Recently, a few studies have revealed that VA caused by coronary artery spasm is related to genetic traits. The objective of this study was to use the recently developed technique of array comparative genomic hybridization (CGH) to screen the genetic aberrations of VA.
To identify candidate genes that might be causally involved in the pathogenesis of VA, genomic deoxyribonucleic acids were extracted from whole blood of 28 patients with VA who presented at Department of Cardiology at Seoul St. Mary's Hospital, Seoul, Korea. The copy number profiles of these patients was then analyzed using array CGH and reverse transcriptase (RT) quantitative polymerase chain reaction (PCR).
Array CGH revealed gains in 31 different regions, with losses in the 4q35.2, 7q22.1, 10q26.3, 15q11.2, 16p13.11, 17p11.2 and 19q13.3 regions (more than 32% aberration in these regions). Several loci were found to be frequently including gains of 5p and 11q (50% of samples). The most common losses were found in 7q (54% of samples). Copy number aberrations in chromosomal regions were detected and corresponding genes were confirmed by RT quantitative PCR. The fold change levels were highest in the CTDP1 (18q23), HDAC10 (22q13.33), KCNQ1 (11p15.5-p15.4), NINJ2 (12p13.33), NOTCH2 (1p12-p11.2), PCSK6 (15q26.3), SDHA (5p15.33), and MUC17 (7q22.1) genes.
Many candidate chromosomal regions that might be related to the pathogenesis of VA were detected by array CGH and should be systematically investigated to establish the causative and specific genes for VA.
血管痉挛性心绞痛（VA）是一种特定类型的冠状动脉疾病，是由冠状动脉痉挛引起的。最近，有几项研究表明，由冠状动脉痉挛引起的 VA 与遗传特征有关。本研究的目的是使用最近开发的比较基因组杂交（CGH）阵列技术筛选 VA 的遗传异常。
为了确定可能与 VA 发病机制有关的候选基因，从韩国首尔圣玛丽医院心脏病科就诊的 28 例 VA 患者的全血中提取基因组脱氧核糖核酸。然后使用比较基因组杂交和逆转录（RT）定量聚合酶链反应（PCR）分析这些患者的拷贝数谱。
比较基因组杂交显示 31 个不同区域的增益，4q35.2、7q22.1、10q26.3、15q11.2、16p13.11、17p11.2 和 19q13.3 区域的缺失（这些区域的异常超过 32%）。发现几个基因座经常包括 5p 和 11q 的增益（50%的样本）。最常见的缺失发生在 7q（54%的样本）。通过 RT 定量 PCR 检测到染色体区域的拷贝数异常，并证实了相应的基因。CTDP1（18q23）、HDAC10（22q13.33）、KCNQ1（11p15.5-p15.4）、NINJ2（12p13.33）、NOTCH2（1p12-p11.2）、PCSK6（15q26.3）、SDHA（5p15.33）和 MUC17（7q22.1）基因的折叠变化水平最高。
通过比较基因组杂交技术检测到许多可能与 VA 发病机制相关的候选染色体区域，应系统地进行研究，以确定 VA 的致病和特异性基因。
