Transcriptome and miRNA network analysis of familial hypercholesterolemia.

[wiskott-aldrich syndrome]

Familial hypercholesterolemia (FH ) is a genetic disorder characterized by a high serum concentration of low -density lipoprotein (LDL ) cholesterol . The high LDL cholesterol level leads to an excess deposition of cholesterol in the arterial walls and accelerated atherosclerosis , thereby increasing the risk of premature coronary heart disease . In the present study , we used a DNA microarray approach to identify gene expression profiles that distinguish patients with FH from healthy control subjects . Furthermore , transcription factors (TFs ), microRNAs (miRNAs ), target genes and pathways were analyzed to explore the potential transcriptional interactions occurring in FH . Publicly available microarray and regulation data were used to construct a regulatory network to identify additional genes related to FH and their interactions . The results revealed that specificity protein 1 (SP 1 ), signal transducer and activator of transcription 1 (STAT 1 ) and spleen focus forming virus (SFFV ) proviral integration oncogene spi 1 (SPI 1 ) play a central role in the FH regulatory network . In addition , the TF , upstream transcription factor 2 , c-fos interacting (USF 2 ) and the gene , Wiskott-Aldrich syndrome (WAS ), were identified to be associated with FH , although no reports for these proteins exist in the literature . Overall , transcriptional network analysis proved to be effective approach to identify novel targets for FH therapy .

Diseases
Validation

Diseases presenting "hypercholesterolemia" symptom

benign recurrent intrahepatic cholestasis

cushing syndrome

erdheim-chester disease

homocystinuria without methylmalonic aciduria

lymphangioleiomyomatosis

scrub typhus

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

This symptom has already been validated