Myocilin Mutations in Patients With Normal-Tension Glaucoma

JAMA Ophthalmology
Wallace L M AlwardNEIGHBORHOOD Consortium

Abstract

Mutations in the myocilin (MYOC) gene are the most common molecularly defined cause of primary open-angle glaucoma that typically occurs in patients with high intraocular pressures (IOP). One MYOC mutation, p.Gln368Ter, has been associated with as many as 1.6% of primary open-angle glaucoma cases that had a mean maximum recorded IOP of 30 mm Hg. However, to our knowledge, the role of the p.Gln368Ter mutation in patients with normal-tension glaucoma (NTG) with an IOP of 21 mm Hg or lower has not been investigated. To evaluate the role of the p.Gln368Ter MYOC mutation in patients with NTG. In this case-control study of the prevalence of the p.Gln368Ter mutation in patients with NTG, cohort 1 was composed of 772 patients with NTG and 2152 controls from the United States (Iowa, Minnesota, and New York) and England and cohort 2 was composed of 561 patients with NTG and 2606 controls from the Massachusetts Eye and Ear Infirmary and the NEIGHBORHOOD consortium. Genotyping was conducted using real-time polymerase chain reaction that was confirmed with Sanger sequencing, the imputation of genome-wide association study data, or an analysis of whole-exome sequence data. Data analysis occurred between April 2007 and April 2018. Comparison ...Continue Reading

References

Jan 31, 1997·Science·E M StoneV C Sheffield
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Apr 10, 1999·Human Molecular Genetics·J H FingertE M Stone
Feb 9, 2002·Science·Tayebeh RezaieMansoor Sarfarazi
Sep 7, 2002·Archives of Ophthalmology·Wallace L M AlwardEdwin M Stone
Nov 21, 2002·Human Mutation·Karin Michels-RautenstraussBernd Rautenstrauss
Mar 31, 2011·Human Molecular Genetics·John H FingertEdwin M Stone
Aug 4, 2015·Investigative Ophthalmology & Visual Science·Puya GharahkhaniStuart MacGregor

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Citations

Oct 17, 2019·Investigative Ophthalmology & Visual Science·Xiaoqiang XiaoMingzhi Zhang
Mar 14, 2021·Ophthalmology·Nazlee ZebardastUNKNOWN International Glaucoma Genetics Consortium
Jun 4, 2021·JAMA Ophthalmology·Perttu J LiuskaUNKNOWN FinnGen Consortium
Aug 4, 2021·Journal of Glaucoma·Elin HolmThomas Rosenberg

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