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Genetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: The GLAU-GENDISK study

British Journal of Ophthalmology Sep 18, 2020

Kim YW, Lee YH, Kim JS, et al. - In the present study, the researchers sought to validate six previously known primary open-angle glaucoma (POAG)-related loci in a Korean population. Representative POAG-related single-nucleotide polymorphisms (SNPs) from six loci (cyclin-dependent kinase 4 inhibitor B antisense RNA 1 (CDKN2B)-AS1, sineoculis homeobox homolog 1/sineoculis homeobox homolog 6(SIX1/SIX6), atonal BHLH transcription factor 7 (ATOH7), cell division cycle 7-transforming growth factor beta receptor 3, CAV1, transmembrane and coiled-coil domain family 1 (TMCO1) have been chosen and genotyped from discovery (POAG = 309, heathy = 5,400) and replication cohorts (POAG = 310, healthy = 5,612 and POAG = 221, healthy = 6,244, respectively). Variants near CDKN2B-AS1 and SIX1/SIX6 may need further research to obtain more genetic information on the development of POAG within a Korean population.

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