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

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.

Author information

1
Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China; Department of Chronic Disease, Shenzhen Nanshan Center for Chronic Disease Control, Shenzhen 518054, China.
2
Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
3
Department of Epidemiology and Statistics, College of Public Health, Jiamusi University, Jiamusi 154007, China.
4
Department of Chronic Disease, Shenzhen Nanshan Center for Chronic Disease Control, Shenzhen 518054, China.
5
Institute of Neurology, Guangdong Medical College, Zhanjiang 524001, China. Electronic address: zhaobine@163.net.
6
Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China. Electronic address: likeshen1971@126.com.

Abstract

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

PMID:
26299655
DOI:
10.1016/j.gene.2015.08.037
[Indexed for MEDLINE]

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