title: [Schizophrenia and ocular misalignment: phenotypic and genetic association analysis].
abstract: The increased incidence of minor physical anomalies (MPAs) in schizophrenia is the fundamental basis for the neurodevelopmental hypothesis of schizophrenia etiology. Ocular misalignment falls into the category of MPAs, but this phenotype has not been assessed in schizophrenia. This study reveals that constant exotropia displays marked association with schizophrenia. To assess the genetic mechanisms, we examined the transcription factor genes ARIX and its paralogue, PMX2B. We identified frequent deletion/insertion polymorphisms in the 20-alanine homopolymer stretch of PMX2B, with a modest association between these functional polymorphisms and constant exotropia in schizophrenia. The polymorphisms were also associated with overall schizophrenia and more specifically with schizophrenia manifesting strabismus. These results suggest a possible interaction between PMX2B and other schizophrenia-precipitating factors, increasing the risk of the combined phenotypes. This study also highlights the unique nature of the polyalanine length variations found in PMX2B.
authors.affiliation: Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute.
authors.forename: Y
authors.initials: Y
authors.lastname: Yoshikawa
authors.forename: T
authors.initials: T
authors.lastname: Toyota
authors.forename: K
authors.initials: K
authors.lastname: Yoshitsugu
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: M
authors.initials: M
authors.lastname: Itokawa
authors.forename: Y
authors.initials: Y
authors.lastname: Minabe
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Tomaru
authors.forename: N
authors.initials: N
authors.lastname: Takei
authors.forename: T
authors.initials: T
authors.lastname: Kumakura
authors.forename: N
authors.initials: N
authors.lastname: Mori
mesh_terms: D005099:Exotropia / Q000150:complications / Q000235:genetics*; D005838:Genotype; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics; D006801:Humans; D009154:Mutation; D010455:Peptides / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic; D012559:Schizophrenia / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; C491061:PHOX2A protein, human; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine