Polymorphism - 116C/G of the human X box binding protein 1 gene is associated with risk of type 2 diabetes in a Chinese Han population

Gene. 2016 Jan 1;575(1):71-4. doi: 10.1016/j.gene.2015.08.037. Epub 2015 Aug 21.


Evidence has been obtained showing that endoplasmic reticulum (ER) stress is closely associated with the development of type 2 diabetes (T2D) and that the human X box binding protein 1 (XBP1) is an important transcription factor involved in the development of ER stress. The study aimed to analyze the potential association between polymorphism -116C/G of XBP1 and the risk of T2D. The association between XBP1 polymorphism -116C/G and T2D risk was assessed among 1058 consecutive unrelated subjects, including 523 T2D patients and 535 healthy controls, in a case control study. The -116GG genotype and -116G allele were more frequent in T2D subjects compared with control subjects by statistical analysis, showing that the -116GG homozygote polymorphism of XBP1 might lead to increased susceptibility to T2D in a Chinese Han population. T2D subjects with the -116GG genotype had higher fasting plasma glucose levels, fasting insulin levels, and HbA1c and worse HOMA-IR than the T2D subjects with -116CG and -116CC genotypes (P<0.0001). The study supports a role for -116C/G polymorphism of the XBP1 promoter in the pathogenesis of T2D in a Chinese Han population, and more studies are needed to further evaluate our results.

Keywords: ER stress response; Genotype; Polymorphism; Type 2 diabetes; XBP1.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian Continental Ancestry Group
  • China
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Diabetes Mellitus, Type 2 / blood
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • Regulatory Factor X Transcription Factors
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • X-Box Binding Protein 1


  • DNA-Binding Proteins
  • Regulatory Factor X Transcription Factors
  • Transcription Factors
  • X-Box Binding Protein 1
  • XBP1 protein, human