Background
The MLC1, located on chromosome 22q13.33, has been suggested as a risk gene for schizophrenia,
especially the periodic catatonia subtype. An initially identified missense mutation
was found to be extremely rare in other patient cohorts; however, a recent report
again argued for an association of two intronic MLC1 single nucleotide polymorphisms
(SNPs) with schizophrenia and bipolar disorder.
Methods
A case-control study of these polymorphisms as well as SNPs in the transcriptional
control region of MLC1 was conducted in 212 chronic schizophrenic patients, 56 of
which suffered from periodic catatonia, 106 bipolar patients, and 284 controls.
Results
Both intronic and promoter polymorphisms were specifically and significantly associated
with periodic catatonia but not schizophrenia or bipolar disorder in general. A haplotype
constructed from all polymorphisms was also associated with periodic catatonia.
Conclusions
The MLC1 variation is associated with periodic catatonia; whether it constitutes a
susceptibility or a modifier gene has to be determined.
Key Words
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Article info
Publication history
Published online: January 09, 2007
Accepted:
August 15,
2006
Received in revised form:
August 10,
2006
Received:
June 17,
2006
Identification
Copyright
© 2007 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
