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PDE4B Proposed as a High Myopia Susceptibility Gene in Chinese Population
Fuxin Zhao1,2, Wei Chen3, Hui Zhou1,2
1School of Optometry and Ophthalmology and Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Frontiers in Genetics
|February 4, 2022
Summary
High myopia susceptibility genes were identified using genome-wide association analysis. The phosphodiesterase 4B (PDE4B) gene may be a novel susceptibility gene regulating myopia progression by controlling collagen I expression.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Myopia is the most common cause of refractive error globally.
- High myopia is a severe form associated with pathological fundus changes.
Purpose of the Study:
- To identify susceptibility genes for high myopia.
- To investigate the role of phosphodiesterase 4B (PDE4B) in high myopia pathogenesis.
Main Methods:
- DNA-pooling based genome-wide association analysis in Han Chinese cohorts.
- Functional assays involving gene and protein expression analysis.
- siRNA knockdown of PDE4B in human scleral fibroblasts.
Main Results:
- Three single nucleotide polymorphism variants (rs10889602, rs2193015, rs9676191) significantly associated with high myopia.
- The rs10889602 variant in the PDE4B gene affects PDE4B and COL1A1 expression.
- PDE4B knockdown in scleral fibroblasts downregulated COL1A1 expression.
Conclusions:
- PDE4B is a potential novel susceptibility gene for high myopia.
- PDE4B may regulate myopia progression by controlling scleral collagen I expression.
- Further studies in diverse populations are warranted.
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