Farnesoid X receptor gene polymorphisms and metabolic disease

Abstract

Abstract:

Farnesoid X receptor (FXR)is a ligand-activated transcription factor that maintains homeostasis. In the nucleus, FXR forms a heterodimer with RXR and binds to inverted repeat elements separated by one nucleotide (IR-1) to regulate the expression of target genes. Highly expressed in the human liver, intestine, kidneys and adrenals, FXR is an important regulator of bile acid, lipid and glucose metabolism. This makes FXR a potential therapeutic target in metabolic disease. What's more, FXR SNPs (single-nucleotide polymorphisms) are proved to be associated with cholelithiasis, glucose homeostasis, intrahepatic cholestasis and obesity. This review focuses on the metabolic pathway and the gene polymorphism of FXR, which can bring the results of early identification and prevention of some metabolic diseases.

Key words: farnesoid X receptor, gene polymorphism, metabolic disease

CLC Number:

R589

XU Qian, LI Ling, WEI Wanhui, ZHAO Huijia, SHI Yuying, YUE Jiang, WANG Yanfeng, YE Qifa. Farnesoid X receptor gene polymorphisms and metabolic disease[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2017, 22(10): 1180-1188.

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