Please cite this article as follows: Philibert RA, Bohle P, Secrest D, Deaderick J, Sandhu H, Crowe R, Black DW. 2007. The Association of the HOPA12bp Polymorphism With Schizophrenia in the NIMH Genetics Initiative for Schizophrenia Sample. Am J Med Genet Part B 144B:743–747.
The association of the HOPA12bp polymorphism with schizophrenia in the NIMH genetics initiative for schizophrenia sample†
Version of Record online: 13 FEB 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 144B, Issue 6, pages 743–747, 5 September 2007
How to Cite
Philibert, R. A., Bohle, P., Secrest, D., Deaderick, J., Sandhu, H., Crowe, R. and Black, D. W. (2007), The association of the HOPA12bp polymorphism with schizophrenia in the NIMH genetics initiative for schizophrenia sample. Am. J. Med. Genet., 144B: 743–747. doi: 10.1002/ajmg.b.30489
- Issue online: 20 AUG 2007
- Version of Record online: 13 FEB 2007
- Manuscript Accepted: 27 NOV 2006
- Manuscript Received: 18 AUG 2006
- NIH R01. Grant Number: DA015789-01
HOPA (MED12) is an X-chromosome gene that codes for a critical member of the Mediator Complex, a group of proteins that regulates transcription via the nuclear receptor, Wnt and Receptor Tyrosine Kinase pathways. In prior association and meta-analyses, we have shown that the presence of an evolutionarily conserved, 12 bp (4 amino acid) insertional polymorphism in exon 43 of this gene is associated with increased risk for an endophenotype of schizophrenia. In this communication, we describe the results of our work with subjects and data from the National Institutes of Mental Health (NIMH) Genetics Initiative for Schizophrenia. We report that the presence of the HOPA12bp polymorphism is associated with increased risk for schizophrenia in subjects of European ancestry. In the light of this new study and the prior wealth of clinical and basic science data, we conclude that the HOPA12bp allele is a risk factor for schizophrenia in subjects of European ancestry and suggest that further studies to define the endophenotype and mechanisms of illness associated with this polymorphism are indicated. © 2007 Wiley-Liss, Inc.