A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome

Aims: Disrupted-in schizophrenia 1 (DISCO, identified in a pedigree with a familial psychosis with the chromosome translocation (1:11), is a putative susceptibility gene for psychoses such as schizophrenia and major depressive disorder (MDD). Patients with chronic fatigue syndrome (CFS) report having continuous severe fatigue and many overlapping symptoms with MDD: however, the mechanism and effective treatment. of CFS are still unclear. We focused on the overlapping symptoms between CFS and MDD and performed an association study of the functional single-nucleotide polymorphism (SNP) in the DISCI gene with CFS. Main methods: Venous blood was drawn from CFS patients and controls and genomic DNA was extracted from the whole blood according to standard procedures. Ser704Cys DISCI SNP was genotyped using the TaqMan 5'-exonuclease allelic discrimination assay. Key findings: We found that the Cys704 allele of Ser704Cys SNP was associated with an increased risk of CFS development compared with the Ser704 allele. Significance: DISCI Ser704Cys might be a functional variant that affects one of the mechanisms implicated in the biology of CFS. Some patients with CFS showed a phenotype similar to that of patients with MDD, but further studies are needed to clarify the biological mechanism, because this study is of a rather preliminary nature. Despite the variety of patients with CFS, DISCI Ser704Cys has an association with CFS, which may also suggest that DISCI plays a central role in the induction of various psychiatric diseases. (C) 2010 Elsevier Inc. All rights reserved.