Molecular VisionPub Date : 2021-12-29eCollection Date: 2021-01-01
Xiaowei Yu, Nannan Sun, Congcong Guo, Zhenni Zhao, Meifang Ye, Jiamin Zhang, Jian Ge, Zhigang Fan
{"title":"MYRF作为原发性闭角型青光眼候选基因的评价。","authors":"Xiaowei Yu, Nannan Sun, Congcong Guo, Zhenni Zhao, Meifang Ye, Jiamin Zhang, Jian Ge, Zhigang Fan","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>MYRF</i>) 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 <i>MYRF</i> or other nanophthalmos-associated gene variants were detected in the 12 normal controls.</p><p><strong>Conclusions: </strong>An appropriate approach was adopted to investigate the genetics of PACG through nanophthalmos-associated genes. A genetic variant, <i>MYRF</i>, was identified in four out of 45 PACG patients, which might be a novel candidate gene for PACG.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"27 ","pages":"734-740"},"PeriodicalIF":1.8000,"publicationDate":"2021-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/50/48/mv-v27-734.PMC8763663.pdf","citationCount":"0","resultStr":"{\"title\":\"Evaluation of <i>MYRF</i> as a candidate gene for primary angle closure glaucoma.\",\"authors\":\"Xiaowei Yu, Nannan Sun, Congcong Guo, Zhenni Zhao, Meifang Ye, Jiamin Zhang, Jian Ge, Zhigang Fan\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>MYRF</i>) 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 <i>MYRF</i> or other nanophthalmos-associated gene variants were detected in the 12 normal controls.</p><p><strong>Conclusions: </strong>An appropriate approach was adopted to investigate the genetics of PACG through nanophthalmos-associated genes. A genetic variant, <i>MYRF</i>, was identified in four out of 45 PACG patients, which might be a novel candidate gene for PACG.</p>\",\"PeriodicalId\":18866,\"journal\":{\"name\":\"Molecular Vision\",\"volume\":\"27 \",\"pages\":\"734-740\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2021-12-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/50/48/mv-v27-734.PMC8763663.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Vision\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Vision","FirstCategoryId":"3","ListUrlMain":"","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.
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.
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.
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