Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.

Humans Visual Field Tests Glaucoma, Open-Angle / genetics Visual Fields Vision Disorders Tonometry, Ocular

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
01 12 2022
Historique:
received: 24 02 2022
accepted: 22 11 2022
entrez: 1 12 2022
pubmed: 2 12 2022
medline: 6 12 2022
Statut: epublish

Résumé

Primary open-angle glaucoma (POAG) is characterized by a progressive optic neuropathy with visual field loss. To investigate the genetic variants associated with visual field loss in POAG, Japanese POAG patients (n = 426) and control subjects (n = 246) were genotyped for 22 genetic variants predisposing to POAG that can be classified into those associated with intraocular pressure (IOP) elevation (IOP-related genetic variants) and optic nerve vulnerability independent of IOP (optic nerve-related genetic variants). The genetic risk score (GRS) of the 17 IOP-related and five optic nerve-related genetic variants was calculated, and the associations between the GRS and the mean deviation (MD) of automated static perimetry as an indicator of the severity of visual field loss and pattern standard deviation (PSD) as an indicator of the focal disturbance were evaluated. There was a significant association (Beta = - 0.51, P = 0.0012) between the IOP-related GRS and MD. The severity of visual field loss may depend on the magnitude of IOP elevation induced by additive effects of IOP-related genetic variants. A significant association (n = 135, Beta = 0.65, P = 0.0097) was found between the optic nerve-related, but not IOP-related, GRS and PSD. The optic nerve-related (optic nerve vulnerability) and IOP-related (IOP elevation) genetic variants may play an important role in the focal and diffuse visual field loss respectively. To our knowledge, this is the first report to show an association between additive effects of genetic variants predisposing to POAG and glaucomatous visual field loss, including severity and focal/diffuse disturbance of visual field loss, in POAG.

Identifiants

DOI: 10.1038/s41598-022-24915-x PMID: 36456827 PMC: PMC9715669
pubmed: 36456827
doi: 10.1038/s41598-022-24915-x
pii: 10.1038/s41598-022-24915-x
pmc: PMC9715669
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

20744

Informations de copyright

© 2022. The Author(s).

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Auteurs

Fumihiko Mabuchi (F)

Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan. mabuchif-oph@umin.ac.jp.

Nakako Mabuchi (N)

Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

Yoichi Sakurada (Y)

Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

Seigo Yoneyama (S)

Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

Kenji Kashiwagi (K)

Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

Zentaro Yamagata (Z)

Department of Health Sciences, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

Mitsuko Takamoto (M)

Department of Ophthalmology, Saitama Red Cross Hospital, Chuo-ku, Saitama, Japan.

Makoto Aihara (M)

Department of Ophthalmology, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.

Takeshi Iwata (T)

Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro-ku, Tokyo, Japan.

Kazuki Hashimoto (K)

Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Kota Sato (K)

Department of Ophthalmic Imaging and Information Analytics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Yukihiro Shiga (Y)

Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Toru Nakazawa (T)

Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Department of Ophthalmic Imaging and Information Analytics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Collaborative Program for Ophthalmic Drug Discovery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Masato Akiyama (M)

Department of Ocular Pathology and Imaging Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka City, Fukuoka, Japan.

Kazuhide Kawase (K)

Yasuma Eye Clinic, Nagoya, Aichi, Japan.
Department of Ophthalmology Protective Care for Sensory Disorders, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.

Mineo Ozaki (M)

Ozaki Eye Hospital, Hyuga, Miyazaki, Japan.

Makoto Araie (M)

Kanto Central Hospital of the Mutual Aid Association of Public School Teachers, Setagaya-ku, Tokyo, Japan.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic variants associated with glaucomatous...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic ophtalmologique › Tests de vision › Tests du champ visuel › Genetic variants associated with glaucomatous...
questionsmedicales.fr › Maladies de l'oeil › Hypertension oculaire › Glaucome › Glaucome à angle ouvert › Genetic variants associated with glaucomatous...
questionsmedicales.fr › Phénomènes physiologiques oculaires › Champs visuels › Genetic variants associated with glaucomatous...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de la vision › Genetic variants associated with glaucomatous...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic ophtalmologique › Tonométrie oculaire › Genetic variants associated with glaucomatous...