Department of Vascular Surgery, Duke University School of Medicine, Durham, NC 27710, USA.
Semin Vasc Surg. 2013 Mar;26(1):2-13. doi: 10.1053/j.semvascsurg.2013.04.003.
Recent sequencing of the human genome has opened up new areas of investigation for genetic aberrations responsible for the pathogenesis of many human diseases. To date, there have been no studies that have investigated the entire human genome for the genetic underpinnings of chronic venous insufficiency (CVI). Utilizing Gene Chip Arrays we analyzed the relative expression levels of more than 47,000 transcripts and variants and approximately 38,500 well-characterized genes from each of 20 patients (N (CVI)=10; N (Control Group)=10). Relative gene expression profiles significantly differed between patients with CVI and patients unaffected by CVI. Regulatory genes of mediators of the inflammatory reaction and collagen production were up-regulated and down-regulated, respectively in CVI patients. DNA microarray analysis also showed that relative gene expression of multiple genes which function remains to be elucidated was significantly different in CVI patients. Fundamental advancements in our knowledge of the human genome and understanding of the genetic basis of CVI represents an opportunity to develop new diagnostic, prognostic, preventive and therapeutic modalities in the management of CVI.
最近对人类基因组的测序为研究导致许多人类疾病发病机制的遗传异常开辟了新的领域。迄今为止,尚无研究针对慢性静脉功能不全 (CVI) 的遗传基础对整个人类基因组进行研究。利用基因芯片阵列,我们分析了来自 20 名患者(CVI 组 N(CVI)=10;对照组 N(对照组)=10)中超过 47,000 个转录本和变体以及大约 38,500 个特征良好的基因的相对表达水平。CVI 患者和不受 CVI 影响的患者之间的相对基因表达谱存在显著差异。CVI 患者中炎症反应和胶原蛋白产生的调节剂的调节基因分别上调和下调。DNA 微阵列分析还表明,CVI 患者多个功能尚未阐明的基因的相对基因表达存在显著差异。我们对人类基因组的认识以及对 CVI 遗传基础的理解取得了重大进展,为 CVI 的诊断、预后、预防和治疗方式的发展提供了机会。