AQP-9, KCNJ11 and ABCC8 Gene Variants in Open Angle Glaucoma: A Hypothesis

نویسندگان

چکیده

Importance: Primary open angle glaucoma, an age-related, retinal neurodegenerative disease of unknown etiology, is treated by lowering intraocular pressure, even though elevated pressure present in only about 60% patients. Since we found that tolbutamide, which inhibits the opening ATP-sensitive potassium channels, modulates aqueous dynamics with a significant increase outflow, and since aquaporin-9 essential for ganglion cells survival, gene variants coding channels may participate development progression glaucoma.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Association of Common Variants in eNOS Gene with Primary Open Angle Glaucoma: A Meta-Analysis

Purpose. To clarify the association of endothelial nitric oxide synthase (eNOS) polymorphisms and primary open angle glaucoma (POAG). Methods. After a systematic literature search in the MEDLINE, EMBASE, and ISI Web of Science databases, all relevant studies evaluating the association between the polymorphisms (rs2070744 and rs1799983) of eNOS gene and POAG were screened and included. The poole...

متن کامل

Analysis of ASB10 variants in open angle glaucoma.

Glaucoma is a common cause of visual disability and affects ∼1.6% of individuals over 40 years of age ( 1). Non-synonymous coding sequence variations in the ankyrin repeat and SOCS box containing gene 10 (ASB10) were recently associated with 6.0% of cases of primary open angle glaucoma (POAG) in patients from Oregon and Germany. We tested a cohort of POAG patients (n= 158) and normal control s...

متن کامل

Variants in ASB10 are associated with open-angle glaucoma.

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma...

متن کامل

WDR36 variants in East Indian primary open-angle glaucoma patients

PURPOSE Glaucoma is a heterogeneous group of optic neuropathies with a complex genetic basis. To date, only the following four genes have been identified: viz. myocilin (MYOC), optineurin (OPTN), WD repeat domain 36 (WDR36), and neurotrophin 4 (NTF4). However, there are conflicting reports regarding the involvement of WDR36 in the pathogenesis of primary open-angle glaucoma (POAG). In the Asian...

متن کامل

Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma

BACKGROUND Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG. METHODS Participants fulfilled strict inclusion criteria of advanced POAG at a young a...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of ophthalmology and research

سال: 2021

ISSN: ['2644-0024']

DOI: https://doi.org/10.26502/fjor.2644-00240034