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Updated: Aug 6, 2026
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Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
The association study between MTOR and high myopia
Xinyu Wang1,2, Jianxin Liu1,2, Yukai Gong1,2
1School of Food and Biological Engineering, Chengdu University, Chengdu, China.
Advances in Ophthalmology Practice and Research
|July 26, 2026
Summary
Genetic factors influence high myopia (HM). A specific single nucleotide polymorphism (SNP), rs17036350 in the MTOR gene, is associated with HM and axial length in the Han Chinese population.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- High myopia (HM) is a significant global ocular disorder with strong genetic underpinnings.
- Understanding the genetic factors contributing to HM is crucial for developing effective management strategies.
Purpose of the Study:
- To investigate the association between candidate single nucleotide polymorphisms (SNPs) and high myopia (HM) in the Han Chinese population.
- To explore the functional role of identified SNPs in the mechanisms of HM development.
Main Methods:
- A case-control study involving 1008 Han Chinese participants (508 HM patients, 500 controls).
- Genotyping of 11 candidate SNPs using multiplex PCR and high-throughput sequencing.
- Functional annotation and validation in a mouse model of myopia.
Main Results:
- The SNP rs17036350 in the Mechanistic Target of Rapamycin Kinase (MTOR) gene was significantly associated with HM in the Southern Han Chinese population.
- This SNP showed a correlation with increased axial length (AL) in HM patients, particularly in females.
- Bioinformatic analysis indicated rs17036350's role in MTOR gene regulation, and elevated p-mTOR levels were observed in a myopia mouse model.
Conclusions:
- rs17036350 within MTOR may serve as a genetic marker for HM and is associated with axial elongation.
- MTOR activation appears to play a role in the axial elongation observed in myopia.
- These findings offer insights into myopia's genetic regulation and potential therapeutic targets.
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