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

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-03-26 DOI:10.1080/13816810.2024.2315152

Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong, Yan Zhang

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引用次数: 0

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.

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PAX6基因启动子甲基化与中国青少年近视的相关性：一项试验研究。

目的：大量流行病学研究表明，近视是一种涉及遗传、环境和行为因素的复杂疾病。本研究旨在探讨 PAX6 基因甲基化在中国青少年近视中的作用：根据视力测试结果将 80 名初中生分为四组：轻度近视组、中度近视组、重度近视组和非近视对照组。结果发现，PAX6 基因启动子的甲基化水平高于对照组：结果：近视组 PAX6 基因启动子甲基化水平（8.06% ± 1.43%）略高于非近视对照组（7.26% ± 1.17%），但差异显著。此外，PAX6 基因甲基化水平随着近视的加重而呈下降趋势。事后分析表明，轻度近视组与其他组之间存在明显的组间差异（All p p = .023）。ROC 曲线显示，PAX6 基因甲基化预测轻度近视的准确性很高（AUC (95% CI) = 0.828 (0.709-0.947)，p 结论：PAX6 基因甲基化预测轻度近视的准确性很高：PAX6基因的甲基化可能在中国青少年近视的发生和发展过程中起作用。这有可能在未来探索青少年近视的潜在分子机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.