title: No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan.
abstract: The human opposite paired-containing (HOPA) gene is believed to be a co-activator of the thyroid hormone receptor and involved in thyroid hormone signal transduction. The gene consists of 45 exons and includes a dodecamer duplication in exon 43, which has been reported to be associated with mental retardation, autism, psychiatric disorders and hypothyroidism. We were interested to know if the 12-bp duplication variant of the HOPA gene is a risk factor for mental retardation and schizophrenia in the Chinese population. We investigated the prevalence of the 12-bp variant in a sample of Chinese mental retardation and schizophrenic patients from Taiwan by PCR-based genotyping. None of the mentally retarded and schizophrenic patients were found to have this dodecamer duplication variant. Our results indicate that the HOPA polymorphism might be very rare in our population and is unlikely to be a major risk factor for mental retardation and schizophrenia in the Chinese population.
authors.affiliation: Graduate Institute of Human Genetics, Tzu Chi University, Hualien City 970, Taiwan, ROC. cchen@mail.tcu.edu.tw
authors.forename: Chao-Chun
authors.initials: CC
authors.lastname: Hung
authors.forename: Jih-I
authors.initials: JI
authors.lastname: Yeh
authors.forename: Jye-Siung
authors.initials: JS
authors.lastname: Fang
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
mesh_terms: D000483:Alleles; D002681:China / Q000208:ethnology; D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000208:ethnology* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D056892:Mediator Complex; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D015995:Prevalence; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D012559:Schizophrenia / Q000208:ethnology* / Q000235:genetics* / Q000503:physiopathology; D015398:Signal Transduction / Q000502:physiology; D013624:Taiwan; D013961:Thyroid Gland / Q000503:physiopathology
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex; D011988:Receptors, Thyroid Hormone