Genomics of varicose veins and chronic venous insufficiency

Abstract

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.