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

• Published in: Molecular vision Vol. 27; pp. 734 - 740
• Main Authors: Yu, Xiaowei, Sun, Nannan, Guo, Congcong, Zhao, Zhenni, Ye, Meifang, Zhang, Jiamin, Ge, Jian, Fan, Zhigang
• Format: Journal Article
• Language: English
• Published: United States Molecular Vision 2021
• Subjects: Case-Control Studies; Genome-Wide Association Study; Glaucoma, Angle-Closure - complications; Glaucoma, Angle-Closure - genetics; Humans; Membrane Proteins - genetics; Microphthalmos - genetics; Middle Aged; Transcription Factors - genetics
• ISSN: 1090-0535

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. 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. 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 ( ) 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 or other nanophthalmos-associated gene variants were detected in the 12 normal controls. An appropriate approach was adopted to investigate the genetics of PACG through nanophthalmos-associated genes. A genetic variant, , was identified in four out of 45 PACG patients, which might be a novel candidate gene for PACG.