Polymorphism analysis of HOPA: a candidate gene for schizophrenia.

Autor: Sandhu HK; Department of Psychiatry, University of Iowa, Iowa City, Iowa, USA., Sarkar M, Turner BM, Wassink TH, Philibert RA
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2003 Nov 15; Vol. 123B (1), pp. 33-8.
DOI: 10.1002/ajmg.b.20019
Abstrakt: 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.
(Copyright 2003 Wiley-Liss, Inc.)
Databáze: MEDLINE
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