2020
DOI: 10.1136/bjophthalmol-2020-316089
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Genetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: the GLAU-GENDISK study

Abstract: AimTo validate six previously known primary open-angle glaucoma (POAG)-related loci in a Korean population.MethodsRepresentative 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) were sele… Show more

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Cited by 5 publications
(9 citation statements)
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“…21 The SNP rs10483727 has been studied in several ethnic studies to elucidate whether it is associated with OAG. 6,[14][15][16][17]19,[22][23][24][25] Consistent with results of these studies and other studies on East Asian population, the association between rs10483727 and OAG has also been reported in a study using a Chinese cohort. 6,13,17 However, for a Japanese cohort, some studies reported that rs10483727 and OAG were related, 19,25 while others did not.…”
Section: Discussionsupporting
confidence: 88%
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“…21 The SNP rs10483727 has been studied in several ethnic studies to elucidate whether it is associated with OAG. 6,[14][15][16][17]19,[22][23][24][25] Consistent with results of these studies and other studies on East Asian population, the association between rs10483727 and OAG has also been reported in a study using a Chinese cohort. 6,13,17 However, for a Japanese cohort, some studies reported that rs10483727 and OAG were related, 19,25 while others did not.…”
Section: Discussionsupporting
confidence: 88%
“…The SNP rs10483727 is located in the intergenic region between the SIX1 and SIX6 loci 21. The SNP rs10483727 has been studied in several ethnic studies to elucidate whether it is associated with OAG 6,14–17,19,22–25. Consistent with results of these studies and other studies on East Asian population, the association between rs10483727 and OAG has also been reported in a study using a Chinese cohort 6,13,17.…”
Section: Discussionsupporting
confidence: 59%
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“…Genomic DNAs were extracted from venous blood samples of each participant, which were anticoagulated with ethylenediaminetetraacetic acid (EDTA), by applying approach of phenol‐chloroform extraction and ethanol precipitation. Then, DNA was amplified with the aid of a PCR kit (Takara), and SNPs in MALAT1 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 and ANRIL 14 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 were genotyped using the single‐base end extension (SNaPshot) method, a genetic analyzer (model: ABI3130), and Genemapper software from ABI.…”
Section: Methodsmentioning
confidence: 99%