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13q32.1 as a candidate region for physiological anisocoria
Jenny M Bosten1, Adam J Lawrance-Owen2, Gary Bargary2
1School of Psychology, University of Sussex, Brighton, UK j.bosten@sussex.ac.uk.
The British Journal of Ophthalmology
|March 11, 2022
Summary
Physiological anisocoria, an asymmetry in pupil size, is linked to a specific region on chromosome 13 (13q32.1). This genetic finding may influence iris color and SOX21 gene expression.
Area of Science:
- Genetics
- Ophthalmology
- Human Physiology
Background:
- Physiological anisocoria is defined as pupil size asymmetry without underlying pathology.
- Understanding the genetic basis of normal physiological variations is crucial in ophthalmology.
Purpose of the Study:
- To investigate the genetic underpinnings of physiological anisocoria in healthy adults.
- To identify specific genes or chromosomal regions associated with pupil size asymmetry.
Main Methods:
- A whole-genome association study was conducted on 1060 healthy adults.
- Pupil images under standard illumination were analyzed, and DNA was extracted from saliva samples.
Main Results:
- No correlation was found between anisocoria and differences in refractive error or visual acuity.
- A significant association was observed between anisocoria and iris lightness, with smaller pupils linked to lighter irises.
- A strong genetic association was identified with chromosome region 13q32.1, specifically near the GPR180 and SOX21 genes, with rs9524583 being the most significant single-nucleotide polymorphism.
Conclusions:
- The identified genetic region 13q32.1 is implicated in abnormal pupil dilator muscle development.
- Alterations in this region may affect SOX21 gene expression, potentially influencing pupil size.
- This finding provides insight into the genetic factors contributing to physiological anisocoria.
