A functional promoter polymorphism (-116C/G) of the X-box binding protein 1 gene (XBP1) gene was reported to be associated with schizophrenia in Asian subjects. In a replication attempt, three European case-control samples comprising 2,182 German, Polish, and Swedish subjects, were genotyped for the XBP1 -116C/G polymorphism. Allele and genotype frequencies were compared between schizophrenic patients and control subjects. There were no significant case-control differences in any of the three samples, although in a meta-analysis with previous results comprising 3,612 subjects there was a borderline association between the -116G-containing genotypes and schizophrenia. We conclude that the functional XBP1 gene polymorphism is not of major importance to schizophrenia in the European populations investigated. It cannot be excluded, however, that the XBP1 polymorphism is involved in schizophrenia in other populations or adds minor susceptibility to the disorder.
[Show abstract][Hide abstract] ABSTRACT: Abstract The functional promoter polymorphism −116C/G of the X-box binding protein 1 (XBP1) gene was found to be associated with schizophrenia in Han Chinese and Japanese subjects, although contradictive negative findings were also reported in European populations. To confirm this association in a Japanese population, the authors conducted a case-control association study. There was no significant difference in both genotype and allele frequencies between the patients and control subjects, suggesting that the XBP1 –116C/G polymorphism might not confer increased susceptibility for schizophrenia in a Japanese population. However, further studies using a larger sample with detailed clinical data should be performed in several populations.
[Show abstract][Hide abstract] 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.
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