Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population

Journal of Glaucoma
Nobuo FuseMakoto Tamai

Abstract

To determine whether mutations in the optineurin (OPTN) gene are associated with the incidence of primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG) in the Japanese. Eighty-nine unrelated Japanese patients with POAG and 65 unrelated patients with NTG were studied. Genomic DNA was extracted from leukocytes of the peripheral blood, and thirteen exons of the OPTN gene were amplified by polymerase chain reaction (PCR) and directly sequenced. Sequence alterations in exons 4 (His26Asp), 5 (Met98Lys), and 16 (Arg545Gln) were found. The His26Asp and Arg545Gln mutations were not detected in 100 ethnically matched controls. The frequency of the missense Met98Lys variant was higher in the POAG and NTG groups than in the control group (16.9% versus 5%, 15.4% versus 5%; P = 0.009 and P = 0.029, and odds ratio 3.85 and 3.45, respectively, for the dominant effect of the OPTN A allele). Polymorphisms in exons 4 and 12, and in introns 6 and 7 were also detected. The association of the allelic variation (Met98Lys) in the OPTN gene and the prevalence of POAG and NTG in unrelated Japanese patients suggest that they are involved in the pathogenesis of POAG and NTG.

References

Aug 1, 1992·The British Journal of Ophthalmology·R A Hitchings
Dec 1, 1983·The British Journal of Ophthalmology·R A Hitchings, S A Anderton
Apr 15, 1993·The New England Journal of Medicine·H A Quigley
May 1, 1996·The British Journal of Ophthalmology·H A Quigley
Jan 31, 1997·Science·E M StoneV C Sheffield
Aug 13, 1998·Human Molecular Genetics·P W FaberM E MacDonald
Apr 11, 2000·Nucleic Acids Research·R J MorelandJ S Hanas
Feb 9, 2002·Science·Tayebeh RezaieMansoor Sarfarazi
Sep 7, 2002·Archives of Ophthalmology·Wallace L M AlwardEdwin M Stone
Oct 16, 2002·Biochemical and Biophysical Research Communications·Jason Vittitow, Teresa Borrás
Aug 27, 2003·Investigative Ophthalmology & Visual Science·Yuk Fai LeungChi Pui Pang
Nov 5, 2003·American Journal of Ophthalmology·Wallace L M AlwardEdwin M Stone

❮ Previous
Next ❯

Citations

Jan 28, 2006·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Francesca ArianiAlessandra Renieri
Sep 9, 2011·International Ophthalmology·Kyoung Tak MaWilliam C Stewart
May 13, 2011·Eye·J H Fingert
Feb 24, 2009·Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics·Gong Je SeongWilliam C Stewart
Aug 4, 2006·The British Journal of Ophthalmology·J E CraigD A Mackey
May 1, 2010·The Tohoku Journal of Experimental Medicine·Nobuo Fuse
Dec 22, 2010·Indian Journal of Ophthalmology·Kollu N RaoSubhabrata Chakrabarti
Nov 22, 2013·Japanese Journal of Ophthalmology·Mitsuko Takamoto, Makoto Araie
Jul 16, 2005·Ophthalmic Genetics·Mattias JanssonMansoor Sarfarazi
Dec 9, 2008·Experimental Eye Research·R Rand AllinghamDouglas J Rhee
Jul 29, 2006·Clinical & Experimental Ophthalmology·Alex W HewittDavid A Mackey
Apr 10, 2015·IUBMB Life·Megha BansalDorairajan Balasubramanian
Aug 2, 2011·Neurobiology of Aging·Marka van BlitterswijkLeonard H van den Berg
Sep 28, 2017·Expert Opinion on Therapeutic Targets·Jeffrey O'CallaghanPete Humphries
Jul 3, 2018·BMJ Open Ophthalmology·Yacouba CisséTing Meng
Oct 18, 2019·Scientific Reports·Takahiko NoroTakayuki Harada
Aug 4, 2016·Molecular Medicine Reports·Joonhong ParkShin Hae Park
Aug 31, 2019·Investigative Ophthalmology & Visual Science·Kseniia ChernyshovaTomotake Kanki
Jun 18, 2020·International Journal of Molecular Sciences·Wioletta Rozpędek-KamińskaIreneusz Majsterek
Feb 20, 2016·Biomedical Reports·Lin GaoHuiping Yuan
Jun 29, 2018·Frontiers in Immunology·Ghanshyam Swarup, Zuberwasim Sayyad
Jun 18, 2011·Molecular Biology Reports·Qingfeng MengFang Cheng
Mar 23, 2019·Investigative Ophthalmology & Visual Science·Min ChenKaijun Wang

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.