Relationship between functional promoter polymorphism in the XBP1 Gene (-116C/G) and obesity

Abstract

Endoplasmic reticulum stress is a central feature of obesity, insulin resistance, and type 2 diabetes. A polymorphism of the XBP1 gene (-116C/G), a transcription factor that modulates the endoplasmic reticulum stress response, causes an impairment of its positive feedback system. The authors examined a role of the polymorphism in the development of obesity. The polymorphism was investigated in clinically obese children and compared with controls. Significant difference of genotype distribution was observed, which suggested that the -116C/G genotype may be a risk factor for at least pediatric obesity.