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The Role of GJD2(Cx36) in Refractive Error Development
Emilie van der Sande1,2,3, Annechien E G Haarman1,2, Wim H Quint1,2
1Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Investigative Ophthalmology & Visual Science
|March 9, 2022
Summary
Common variants near the GJD2 gene are linked to myopia development. This gene encodes connexin 36 (Cx36), crucial for retinal function and visual signal processing.
Area of Science:
- Ophthalmology and Genetics
- Molecular Biology
Background:
- Refractive errors, particularly myopia, are increasing globally, posing public health concerns due to potential severe ocular complications.
- Genomewide association studies (GWAS) have identified numerous genetic variants associated with refractive errors.
- Common variants near the gap junction delta-2 (GJD2) gene are consistently implicated in refractive error development.
Purpose of the Study:
- To review the current evidence linking the GJD2 gene and its encoded protein, connexin 36 (Cx36), to myopia development.
- To summarize the role of gap junctional communication in the eye.
- To explore potential mechanisms involving dopamine and GJD2(Cx36) in refractive error pathogenesis.
Main Methods:
- Review of existing scientific literature and genomewide association studies (GWAS).
- Analysis of GJD2 gene variants and their association with refractive errors.
- Examination of the function of connexin 36 (Cx36) in retinal physiology.
Main Results:
- GJD2 variants are among the top genetic hits associated with refractive errors.
- GJD2 encodes connexin 36 (Cx36), a protein forming gap junctions highly expressed in the neural retina.
- Cx36 plays a role in retinal processing of visual signals.
Conclusions:
- The GJD2 gene and its protein product Cx36 are strongly linked to myopia development.
- Gap junctional communication mediated by Cx36 in the retina is critical for refractive error regulation.
- Dopamine signaling and gap junction phosphorylation/coupling are potential pathways through which GJD2 influences refractive error.
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