Genetic Risk and Phenotype Correlation of Primary Open-Angle Glaucoma Based on Rho-Kinase Gene Polymorphisms
| Autor: | Young Kook Kim, Ki Ho Park, Seung Chan Lee, Jin Wook Jeoung, Yong Woo Kim, Yu Jeong Kim, Eunoo Bak, Seoyoung Wy |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Intraocular pressure
medicine.medical_specialty primary open-angle glaucoma Open angle glaucoma genetic structures rho-associated coiled-coil kinase (ROCK) Glaucoma Single-nucleotide polymorphism Article 03 medical and health sciences 0302 clinical medicine single nucleotide polymorphism Ophthalmology medicine ROCK2 Rho-associated protein kinase 030304 developmental biology 0303 health sciences business.industry General Medicine medicine.disease eye diseases medicine.anatomical_structure 030221 ophthalmology & optometry Medicine Trabecular meshwork Gene polymorphism sense organs business |
| Zdroj: | Journal of Clinical Medicine, Vol 10, Iss 1953, p 1953 (2021) Journal of Clinical Medicine Volume 10 Issue 9 |
| ISSN: | 2077-0383 |
| Popis: | Rho-associated coiled-coil kinase (ROCK) signaling can affect glaucoma risk by regulating trabecular meshwork outflow. We investigated the effect of ROCK gene polymorphism on the risks of primary open-angle glaucoma (POAG) and POAG-related phenotypes including intraocular pressure (IOP) in a Korean population. A total of 24 single-nucleotide polymorphisms (SNPs) from ROCK1 and ROCK2 were selected and genotyped for 363 POAG patients and 213 healthy controls. Among the 363 POAG patients, 282 were normal-tension glaucoma (NTG, baseline IOP ≤ 21 mmHg) and 81 were high-tension glaucoma (HTG, baseline IOP > 21 mmHg). The SNPs rs288979, rs1006881, rs35996865, rs10083915, and rs11873284 in ROCK1 (tagged to each other, r2 = 1) were nominally associated with risk of HTG (OR = 0.52, p = 0.045). However, there were no SNPs that were significantly associated with the risk of NTG. In the genotype-phenotype correlation analysis, the SNPs rs2230773 and rs3771106 in ROCK2 were significantly correlated with central corneal thickness (CCT)-adjusted IOP (p = 0.024) and axial length (AXL p = 0.024), respectively. The present data implicated the role of ROCK in POAG development, and as such, can serve as a good reference for upcoming Rho/ROCK-pathway-related studies on POAG. |
| Databáze: | OpenAIRE |
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