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Abstract #92417 Published in IGR 22-1

Genetic Risk and Phenotype Correlation of Primary Open-Angle Glaucoma Based on Rho-Kinase Gene Polymorphisms

Kim YW; Bak E; Bak E; Bak E; Bak E; Wy S; Lee SC; Kim YJ; Kim YK; Park KH; Jeoung JW
Journal of clinical medicine 2021; 10:


Rho-associated coiled-coil kinase (ROCK) signaling can affect glaucoma risk by regulating trabecular meshwork outflow. We investigated the effect of 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 and 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 (tagged to each other, = 1) were nominally associated with risk of HTG (OR = 0.52, = 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 were significantly correlated with central corneal thickness (CCT)-adjusted IOP ( = 0.024) and axial length (AXL; = 0.024), respectively. The present data implicated the role of in POAG development, and as such, can serve as a good reference for upcoming Rho/ROCK-pathway-related studies on POAG.

Department of Ophthalmology, Seoul National University Hospital, Seoul 03080, Korea.

Full article

Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
3.9 Pathophysiology (Part of: 3 Laboratory methods)



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