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Yong Woo Kim, Yu Jeong Kim, Jaesoon Kim, YoungJin Seo, Sanjeev Satyal, Hoyoung Huh, Young Kook Kim, Ki Ho Park, Jin Wook Jeoung; Investigation of the Rho-kinase Gene Polymorphism in Primary Open-angle Glaucoma in Korean Population. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1610.
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To investigate a possible association between Rho-associated protein kinase (ROCK) gene polymorphism and primary open-angle glaucoma (POAG) in a Korean population and to perform genotype-phenotype analysis.
Previously known 24 single nucleotide polymorphisms (SNP) from ROCK1 and ROCK2 were targeted for genetic association with POAG in a Korean cohort (363 POAG patients and 213 healthy controls). According to baseline intraocular pressure (IOP), POAG patients were sub-classified to normal-tension glaucoma (NTG, baseline IOP ≤ 21 mmHg, n = 282) and high-tension glaucoma (HTG, baseline IOP > 21mmHg, n = 81). The samples were genotyped by using a Fluidigm EP1TM assay and data were analyzed using an unconditional logistic regression to calculate the odds ratio (OR) related to POAG risk. Genotype–phenotype correlation study was performed using the objective clinical data derived from 363 eyes of 363 POAG patients.
Minor alleles were not identified from SNPs rs34945852, rs35768389, rs190769228, rs1130157 from ROCK2. SNPs rs288979, rs1006881, rs35996865, rs10083915, and rs11873284 in ROCK1 (5 SNPs were tagged to each other, r2 = 1) were significantly associated with the risk of HTG (OR = 0.52, P = 0.04) but not with NTG. SNP rs2230773 in ROCK2 was significantly correlated with IOP adjusted by central corneal thickness (major homo: 17.4 mmHg, hetero: 20.7mmHg, minor homo: not identified, P = 0.024) and SNP rs3771106 in ROCK2 was significantly correlated with axial length (major homo: 24.4 mm, hetero: 24.8 mm, minor homo: 24.9 mm, P = 0.024).
ROCK gene may be a candidate for involvement in the pathogenesis of POAG. The present data can be a reference for future ROCK related genetic studies in Korean population.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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