Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Vision Pub Date : 2021-12-29 eCollection Date: 2021-01-01

Xiaowei Yu, Nannan Sun, Congcong Guo, Zhenni Zhao, Meifang Ye, Jiamin Zhang, Jian Ge, Zhigang Fan

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Abstract

Purpose: Primary angle-closure glaucoma (PACG) is a leading cause of blindness. Despite tremendous human effort and financial input, no definitive causative gene has been identified either through genome-wide association or Mendelian family studies. In the current study, novel candidate genes for PACG were investigated by studying the variants of nanophthalmos-associated genes.

Methods: A case-control study was conducted that included 45 PACG patients and 12 normal controls with short axial length (AL, less than 23.5 mm but more than 20.5 mm). Whole-exome sequencing (WES) was performed to screen the variants in previously identified nanophthalmos-associated genes, as well as other risk genes.

Results: The age range of the 45 PACG patients was 24 to 80 years, with an average AL of 21.87±0.65 mm (range: 20.54-23.45 mm) in the right eye and 21.89±0.64 mm (range 20.60-23.23 mm) in the left eye. Four novel myelin regulatory factor (MYRF) gene missense variants (p.G117S, p.H1057R, p.H230R, and p.R316C) were identified in four out of the 45 enrolled PACG patients, respectively. No MYRF or other nanophthalmos-associated gene variants were detected in the 12 normal controls.

Conclusions: An appropriate approach was adopted to investigate the genetics of PACG through nanophthalmos-associated genes. A genetic variant, MYRF, was identified in four out of 45 PACG patients, which might be a novel candidate gene for PACG.

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MYRF作为原发性闭角型青光眼候选基因的评价。

目的:原发性闭角型青光眼(PACG)是致盲的主要原因。尽管人类付出了巨大的努力和财力投入，但无论是通过全基因组关联还是孟德尔家族研究，都没有确定明确的致病基因。本研究通过研究纳米眼相关基因的变异，寻找新的候选PACG基因。方法:采用病例-对照研究，纳入45例PACG患者和12例轴长短(AL小于23.5 mm大于20.5 mm)的正常对照。采用全外显子组测序(WES)筛选先前鉴定的纳米眼相关基因以及其他风险基因的变异。结果:45例PACG患者年龄范围24 ~ 80岁，右眼平均AL为21.87±0.65 mm(范围:20.54 ~ 23.45 mm)，左眼平均AL为21.89±0.64 mm(范围:20.60 ~ 23.23 mm)。在45名入选PACG患者中，分别在4名患者中发现了4种新的髓鞘调节因子(MYRF)基因错sense变体(p.G117S, p.H1057R, p.H230R和p.R316C)。在12名正常对照中未检测到MYRF或其他纳米眼相关基因变异。结论:通过纳米眼相关基因研究PACG的遗传学是一种合适的方法。在45名PACG患者中，有4人发现了一种基因变异MYRF，这可能是一种新的PACG候选基因。

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

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.