PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy

ABSTRACT

Purpose

A large number of epidemiological studies have shown that myopia is a complex disease involving genetic, environmental, and behavioral factors. The purpose of this study was to explore the role of PAX6 gene methylation in myopia in Chinese adolescents.

Methods

Eighty junior high school students were divided into four groups based on their vision test results: mild myopia, moderate myopia, severe myopia, and non-myopia control. The methylation level of PAX6 gene promoter was detected by bisulfate pyrosequencing.

Results

The methylation level of PAX6 gene in myopia group (8.06% ± 1.43%) was slightly but significantly higher than that in non-myopia controls (7.26% ± 1.17%). In addition, PAX6 gene methylation levels presented a decreasing pattern along with the aggravation of myopia. Post-hoc analysis indicated significant inter-group differences for the mild myopia group and other groups (All p < .05). In the subgroup analysis by gender, the methylation level of PAX6 gene promoter in girls was higher than that in boys (p = .023). The ROC curves showed a high accuracy of PAX6 gene methylation to predict mild myopia (AUC (95% CI) = 0.828 (0.709–0.947), p < .001).

Conclusions

The methylation of PAX6 gene might play a role in the onset and progression of myopia in Chinese adolescents. And this could potentially explore the potential molecular mechanisms of juvenile myopia in the future.

KEYWORDS:

• PAX6 gene
• DNA methylation
• myopia
• adolescents

Disclosure statement

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial or non-financial interest in the subject matter or materials discussed in this manuscript.

Author contributors

Study design: Danjie Jiang, Feng Tong, Yan Zhang

Data acquisition: Qinghai Gong, Jinghui Wang, Hua Gao, Yanbo Guo

Statistical analysis: Danjie Jiang, Jia Hong

Manuscript preparation and editing: Danjie Jiang, Shujuan Lin

Manuscript revision/review: Yan Zhang, Feng Tong, Danjie Jiang.

Data availability statement

The study was approved by the ethics committee of the Ningbo Municipal Center for Disease Control and Prevention and followed the tenets of the Declaration of Helsinki. All subjects involved in the study provided written informed consent by the parents or legally authorized representatives of the minor subjects after understanding the purpose and procedures of the study.

Ethical approval

All procedures performed in studies involving human participants were following the ethical standards of the ethics committee of Ningbo Municipal Center for Disease Control and Prevention and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Additional information

Funding

This study was funded by Ningbo Medical Science and Technology Project [No. 2021Y26], Ningbo Public Welfare Science and Technology Project [No. 2022S077], Zhejiang Provincial Natural Science Foundation of China [No. LTGY24H260007], Science and Techonoly Project of Putian City [No. 2023SZ3001PTXY02] and the High Level Introduction of Talent Research Start-up Fund of Putian University [No. 2023020].