In:
British Journal of Ophthalmology, BMJ, Vol. 105, No. 9 ( 2021-09), p. 1307-1312
Abstract:
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 ) , a tonal 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.
Type of Medium:
Online Resource
ISSN:
0007-1161
,
1468-2079
DOI:
10.1136/bjophthalmol-2020-316089
Language:
English
Publisher:
BMJ
Publication Date:
2021
detail.hit.zdb_id:
1482974-5