Polymorphism analysis of HOPA: a candidate gene for schizophrenia.
Polymorphism analysis of HOPA: a candidate gene for schizophrenia.
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HOPA：精神分裂症候选基因的多态性分析。
DOI：
10.1002/ajmg.b.20019
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Philibert,RobertA
中科院分区：
文献类型：
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作者：
Sandhu,HarinderK;Sarkar,Mitul;Turner,BethM;Wassink,TomH;Philibert,RobertA
HOPAis 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 ofHOPAhave been associated with a syndrome of aberrant behavior, most prominently psychosis, and hypothyroidism. TheseOpadomain polymorphisms are intriguing because subsequent research has demonstrated that changes in theOpadomain of theC. elegansorthologue ofHOPAresults 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 ofHOPAusing 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 inHOPAis the previously demonstrated HOPA12 bppolymorphism. Transmission disequilibrium analysis of the HOPA12 bppolymorphism showed segregation with affected status in six of eight instances. We suggest that this evidence supports previous associations of HOPA12 bpwith a broad range of neuropsychiatric illness and conclude that further studies of this uncommon polymorphism are merited. © 2003 Wiley‐Liss, Inc.
