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Genetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: the GLAU-GENDISK study
  1. Yong Woo Kim1,2,
  2. Yun Hwan Lee3,
  3. Jin-Soo Kim1,4,
  4. Jinho Lee1,5,
  5. Yu Jeong Kim1,
  6. Hyun Sub Cheong6,
  7. Seok Hwan Kim1,7,
  8. Ki Ho Park1,2,
  9. Dong Myung Kim1,
  10. Hyuk Jin Choi1,8,
  11. Jin Wook Jeoung1,2
  1. 1 Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea
  2. 2 Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea
  3. 3 Department of Public Health Sciences, Seoul National University, Seoul, Korea
  4. 4 Department of Ophthalmology, Chungnam National University Sejong Hospital, Sejong, Korea
  5. 5 Department of Ophthalmology, Hallym University Chuncheon Sacred Heart Hospital, Chuncheon, Korea
  6. 6 Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, Korea
  7. 7 Department of Ophthalmology, Seoul National University Boramae Medical Center, Seoul, Korea
  8. 8 Seoul National University Hospital Healthcare System Gangnam Center, Seoul, Korea
  1. Correspondence to Jin Wook Jeoung, Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea; neuroprotect{at} and Hyuk Jin Choi, Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital Healthcare System Gangnam Center, 152, Teheran-ro, Gangnam-gu, Seoul 06236, Korea; docchoi{at}


Aim To validate six previously known primary open-angle glaucoma (POAG)-related loci in a Korean population.

Methods 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) were selected and genotyped from discovery (POAG=309, heathy=5400) and replication cohorts (POAG=310, healthy=5612 and POAG=221, healthy=6244, respectively). Data were analysed using logistic regression to calculate the OR for POAG risk associated with SNP.

Results From the discovery cohort, rs1900004 in ATOH7 (OR=1.29, p=0.0024); rs1063192 (OR=0.69, p=0.0006), rs2157719 (OR=0.63, p=0.0007) and rs7865618 (OR=0.63, p=0.0006) in CDKN2B-AS1, and rs10483727 in SIX1/SIX6 (OR=0.68, p=7.9E–05) were nominally associated with the risk of POAG. The replication cohorts revealed nominal associations with rs2157719 (OR=0.72, p=0.0135), rs1063192 (OR=0.63, p=0.0007) and rs7865618 (OR=0.52, p=0.0004) in CDKN2B-AS1. A mega-analysis from the entire Korean population revealed significance with rs1063192 (OR=0.77, p=6.0E–05), rs2157719 (OR=0.63, p=0.0007) and rs7865618 (OR=0.58, p=1.9E–06) in CDKN2B-AS1 and with rs10483727 in SIX1/SIX6 (OR=0.79, p=9.4E–05), with the same direction of effect between the discovery association and the replication sample.

Conclusions Variants near CDKN2B-AS1 and SIX1/SIX6 may require further investigation to obtain more genetic information on POAG development in a Korean population.

  • Genetics
  • Glaucoma
  • Epidemiology

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  • HJC and JWJ contributed equally to this work.

  • Contributors YWK, HJC, JWL: study design, data collection, study analysis, data interpretation, manuscript preparation, manuscript revision. YHL, HSC: study design, data collection, study analysis, data interpretation. J-SK, JL, YJK: data collection, study analysis, data processing. SHK: study design, data collection, data interpretation. KHP, DMK: data collection, data interpretation, manuscript revision.

  • Funding This work was supported by a grant from the Seoul National University Hospital (SNUH) Research Fund (grant number: 2720170020). The biospecimens and data used in this study were provided by the Korean Genome Analysis Project (4845-301), the Korean Genome and Epidemiology Study (4851-302) and the Korea Biobank Project (4851-307, KBP-2015-046), all of which are supported by the Korea Center for Disease Control and Prevention, Republic of Korea.

  • Competing interests None declared.

  • Ethics approval The present study was approved by the Seoul National University Hospital (SNUH) Institutional Review Board (IRB) (IRB No. H-1804-039-935) and followed the tenets of the Declaration of Helsinki (1964). Written informed consent was obtained from each of the enrolled participants.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement The data sets generated and/or analysed in the current study are available from the corresponding author on reasonable request. The microarray sequencing data set is held at Seoul National University Hospital (SNUH), access to it requiring approval of the Institutional Review Board of SNUH.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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