Department of Neurosurgery, CHA Bundang Medical Center, CHA University, School of Medicine, Seongnam, South Korea.
Neurosci Lett. 2012 Jul 11;521(1):71-5. doi: 10.1016/j.neulet.2012.05.062. Epub 2012 May 30.
Recent evidence has demonstrated associations between the single nucleotide polymorphism (SNP) rs11614913 in miR-196a2C>T and various pathologies. A main target of miRNA-196a is annexin A1 (lipocortin1, ANXA1), which is associated with increased multiple malignant tumors in brain models of ischemia and reperfusion injury. To determine the effects of miRNA SNPs in moyamoya disease, we recruited 107 patients with moyamoya disease and 240 healthy controls from a Korean study population and determined the genotype of each participant from whole blood samples. We compared the patient and the control genotypes and allele frequencies of rs2910164, rs11614913, and rs3746444 and investigated the association of the three SNPs with age and clinical characteristics, such as cerebral hemorrhage or infarction. rs11614913 in miR-196a2C>T was significantly associated with moyamoya disease. The association of this SNP with adult age and cerebral infarction was statistically significant compared to the control group, but the association with hemorrhagic moyamoya disease was not significant. The CT+CC genotype of miR-196a2 was represented at an increased frequency among patients with moyamoya disease. However, the distribution of miR-146aC>G and miR-499A>G genotypes was not statistically different between participants who were healthy and those with moyamoya disease. Thus, the SNP rs11614913 is significantly associated with moyamoya disease, as well as cerebral infarction and adult age in patients with moyamoya disease. This study demonstrates a higher frequency of the CT+CC genotype of the SNP rs11614913 in miR-196a2C>T, which suggests that miR-196a2 may play a role in the pathogenesis of moyamoya disease.
最近的证据表明，单核苷酸多态性（SNP）rs11614913 与 miR-196a2C>T 之间存在关联，与各种病理相关。miRNA-196a 的主要靶标是膜联蛋白 A1（脂钙蛋白 1，ANXA1），它与缺血再灌注损伤的脑模型中的多种恶性肿瘤的增加有关。为了确定 miRNA SNPs 在烟雾病中的作用，我们从韩国研究人群中招募了 107 名烟雾病患者和 240 名健康对照者，并从全血样本中确定了每位参与者的基因型。我们比较了患者和对照组的基因型和等位基因频率 rs2910164、rs11614913 和 rs3746444，并调查了这三个 SNPs 与年龄和临床特征（如脑出血或脑梗死）的关联。miR-196a2C>T 中的 rs11614913 与烟雾病显著相关。与对照组相比，该 SNP 与成年年龄和脑梗死的关联具有统计学意义，但与出血性烟雾病的关联不显著。miR-196a2 的 CT+CC 基因型在烟雾病患者中呈现出增加的频率。然而，miR-146aC>G 和 miR-499A>G 基因型在健康参与者和烟雾病患者之间的分布没有统计学差异。因此，SNP rs11614913 与烟雾病以及烟雾病患者的脑梗死和成年年龄显著相关。本研究表明，miR-196a2C>T 中的 SNP rs11614913 的 CT+CC 基因型频率较高，提示 miR-196a2 可能在烟雾病的发病机制中起作用。
