Pathway analysis detect potential mechanism for familial combined hyperlipidemia.

Background: Familial combined hyperlipidemia (FCHL) is the most commonly inherited hyperlipidemia in men. It constitutes a substantial risk factor for atherosclerosis patients.

Aim: To delineating the potential mechanism of FCHL by bioinformatics tools.

Materials And Methods: In this study, Protein-Protein Interaction (PPI) network was constructed to identify the potential functional proteins and their interactive relationships in familial combined hyperlipidemia.

Results: Our results showed that androgen receptor (AR) might play an important role in familial combined hyperlipidemia by interaction with TGIF1, NR3C1, KLK2, etc. Some pathways were also identified, such as Hedgehog signaling pathway, Phosphatidylinositol signaling system, and Long-term depression, which were all demonstrated participating in lipid metabolism in previous experiments.

Conclusions: Although lack of direct evidence, by PPI network construction it proved AR is a key factor in FCHL, and also demonstrated that PPI network construction is an alternative avenue for FCHL analysis.