The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH Genetics Initiative for Schizophrenia sample

Robert A Philibert; Phil Bohle; Dianna Secrest; Jessica Deaderick; Harinder Sandhu; Raymond Crowe; Donald W Black

doi:10.1002/ajmg.b.30489

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The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH Genetics Initiative for Schizophrenia sample

Journal article

Peer reviewed

The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH Genetics Initiative for Schizophrenia sample

Robert A Philibert, Phil Bohle, Dianna Secrest, Jessica Deaderick, Harinder Sandhu, Raymond Crowe and Donald W Black

American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.144B(6), pp.743-747

09/05/2007

DOI: 10.1002/ajmg.b.30489

PMID: 17299734

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Abstract

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 HOPA(12bp) 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 HOPA(12bp) 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.

European Continental Ancestry Group - genetics

Genetic Predisposition to Disease

Gene Frequency

Humans

Risk Factors

Male

DNA Primers - genetics

Polymorphism, Genetic

Genes, X-Linked

Receptors, Thyroid Hormone - genetics

Schizophrenia - genetics

Pedigree

Base Sequence

Alleles

Female

Mediator Complex

Details

Title: Subtitle: The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH Genetics Initiative for Schizophrenia sample
Creators: Robert A Philibert - Department of Psychiatry, The University of Iowa, Iowa City, Iowa 52242-1000, USA. robert-philibert@uiowa.edu
Phil Bohle
Dianna Secrest
Jessica Deaderick
Harinder Sandhu
Raymond Crowe
Donald W Black
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.144B(6), pp.743-747
DOI: 10.1002/ajmg.b.30489
PMID: 17299734
NLM abbreviation: Am J Med Genet B Neuropsychiatr Genet
ISSN: 1552-4841
eISSN: 1552-485X
Publisher: United States
Grant note: R01 DA015789-01 / NIDA NIH HHS MH59566 / NIMH NIH HHS
Language: English
Date published: 09/05/2007
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Psychiatry; Iowa Neuroscience Institute
Record Identifier: 9984004098902771

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