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Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B.
Tomoko Toyota1, Kiyoshi Yoshitsugu, Mitsuru Ebihara
1Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Wako, Saitama, Japan.
Human Molecular Genetics
|January 8, 2004
Summary
This study links constant exotropia, a type of eye misalignment, to schizophrenia. Genetic analysis revealed variations in the PMX2B gene associated with schizophrenia and strabismus, supporting neurodevelopmental theories.
Area of Science:
- Neuroscience
- Genetics
- Ophthalmology
Background:
- Minor physical anomalies (MPAs) are linked to schizophrenia's neurodevelopmental origins.
- Ocular misalignment (strabismus) is an MPA but hasn't been studied in schizophrenia.
- Constant exotropia is a specific type of strabismus.
Purpose of the Study:
- To investigate the association between constant exotropia and schizophrenia.
- To explore the role of transcription factor genes ARIX and PMX2B in schizophrenia with strabismus.
- To analyze genetic polymorphisms in PMX2B.
Main Methods:
- Assessed constant exotropia as an MPA in schizophrenia patients.
- Examined ARIX and PMX2B gene transcription.
- Analyzed deletion/insertion polymorphisms in the PMX2B 20-alanine homopolymer stretch.
Main Results:
- Constant exotropia showed a strong association with schizophrenia (P=0.00000000906).
- Functional polymorphisms in PMX2B were associated with constant exotropia in schizophrenia (P=0.029), overall schizophrenia (P=0.012), and schizophrenia with strabismus (P=0.004).
- PMX2B polymorphisms are common, ancient, stably transmitted, and deletions are more prevalent than insertions.
Conclusions:
- The findings support the neurodevelopmental hypothesis of schizophrenia.
- Constant exotropia is a significant MPA associated with schizophrenia.
- PMX2B gene variations may interact with other factors to increase schizophrenia risk.