A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome.
OBJECTIVE
Disrupted-in schizophrenia 1 (DISC1), 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 DISC1 gene with CFS.


METHODS
Venous blood was drawn from CFS patients and controls and genomic DNA was extracted from the whole blood according to standard procedures. Ser704Cys DISC1 SNP was genotyped using the TaqMan 5'-exonuclease allelic discrimination assay.


RESULTS
We found that the Cys704 allele of Ser704Cys SNP was associated with an increased risk of CFS development compared with the Ser704 allele.


CONCLUSIONS
DISC1 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, DISC1 Ser704Cys has an association with CFS, which may also suggest that DISC1 plays a central role in the induction of various psychiatric diseases.
Department of Biomarker and Molecular Biophysics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Sanae
S
Fukuda
Ryota
R
Hashimoto
Kazutaka
K
Ohi
Kouzi
K
Yamaguti
Yasuhito
Y
Nakatomi
Yuka
Y
Yasuda
Kouzin
K
Kamino
Masatoshi
M
Takeda
Seiki
S
Tajima
Hirohiko
H
Kuratsune
Yoshiki
Y
Nishizawa
Yasuyoshi
Y
Watanabe
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D003865:Major Depressive Disorder / Q000235:genetics*; D015673:Fatigue Syndrome, Chronic / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
C412476:DISC1 protein, human; D009419:Nerve Tissue Proteins