Polymorphism analysis of HOPA: a candidate gene for schizophrenia

Harinder K Sandhu; Mitul Sarkar; Beth M Turner; Tom H Wassink; Robert A Philibert

doi:10.1002/ajmg.b.20019

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Polymorphism analysis of HOPA: a candidate gene for schizophrenia

Journal article

Peer reviewed

Polymorphism analysis of HOPA: a candidate gene for schizophrenia

Harinder K Sandhu, Mitul Sarkar, Beth M Turner, Tom H Wassink and Robert A Philibert

American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.123B(1), pp.33-38

11/15/2003

DOI: 10.1002/ajmg.b.20019

PMID: 14582143

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Abstract

HOPA is a 25 kb Xq13 gene that codes for a member of the thyroid receptor co-activator protein (TRAP) family of nuclear receptor co-activators. In our prior research, polymorphisms in the opposite paired (Opa) domain of HOPA have been associated with a syndrome of aberrant behavior, most prominently psychosis, and hypothyroidism. These Opa domain polymorphisms are intriguing because subsequent research has demonstrated that changes in the Opa domain of the C. elegans orthologue of HOPA results in altered neurogenesis and release of transcriptional suppression. In an effort to determine whether other allelic polymorphisms in this gene exist and may potentially contribute to increased susceptibility to neuropsychiatric illness, we have performed single stranded conformational polymorphism (SSCP) analysis of all 45 exons and each of the two potential promoter regions of HOPA using DNA from a panel of patients with psychosis. We found a rare promoter polymorphism in an individual with schizoaffective disorder and extremely low thyroid stimulating hormone (TSH). The most common exonic polymorphism in HOPA is the previously demonstrated HOPA(12 bp) polymorphism. Transmission disequilibrium analysis of the HOPA(12 bp) polymorphism showed segregation with affected status in six of eight instances. We suggest that this evidence supports previous associations of HOPA(12 bp) with a broad range of neuropsychiatric illness and conclude that further studies of this uncommon polymorphism are merited.

Chromosomes, Human, X - genetics

Exons

Humans

Molecular Sequence Data

Promoter Regions, Genetic - genetics

Polymorphism, Single-Stranded Conformational

Receptors, Thyroid Hormone - genetics

Schizophrenia - genetics

Base Sequence

Alleles

Female

Hypothyroidism - genetics

Mediator Complex

Genetic Linkage

Details

Title: Subtitle: Polymorphism analysis of HOPA: a candidate gene for schizophrenia
Creators: Harinder K Sandhu - Department of Psychiatry, University of Iowa, Iowa City, Iowa, USA
Mitul Sarkar
Beth M Turner
Tom H Wassink
Robert A Philibert
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.123B(1), pp.33-38
DOI: 10.1002/ajmg.b.20019
PMID: 14582143
NLM abbreviation: Am J Med Genet B Neuropsychiatr Genet
ISSN: 1552-4841
eISSN: 1552-485X
Publisher: United States
Grant note: H08MH064714-01 / NIMH NIH HHS
Language: English
Date published: 11/15/2003
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984003925802771

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