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Lack of correlation between S1 RNA binding domain 1 SNP rs3213787/rs11884064 and normal‐tension glaucoma in a population from the Republic of Korea
Author(s) -
Yeon Park Hye,
Young Shin Hye
Publication year - 2021
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2020.0063
Subject(s) - normal tension glaucoma , allele , genotype , glaucoma , odds ratio , snp , genetics , allele frequency , cohort , population , medicine , single nucleotide polymorphism , open angle glaucoma , gene , ophthalmology , biology , environmental health
Purpose Previous studies have reported the association of the S1 RNA binding domain 1 ( SRBD1) gene with open‐angle glaucoma in various ethnic populations. However, in those studies, the definition of the patients differed, as did the results. Therefore, the relevance of the SRBD1 gene to normal tension glaucoma (NTG) appears uncertain at present. Thus, we investigated the relationship between the SRBD1 gene and NTG in a Korean NTG cohort. Methods In total, 159 unrelated Korean patients with NTG and 103 Korean control subjects were recruited. Thus, a total of 262 participants were analyzed for SRBD1 (rs3213787 and rs11884064 ) gene polymorphisms. Results The minor allele frequency (MAF) of rs3213787 was found to be 0.13 and 0.19 in NTG cases and controls, respectively. The genetic association analysis of SNP rs3213787 revealed no significant difference in genotype distribution between NTG cases and controls in allelic (odds ratio [OR] = 0.634, p = 0.063), dominant (OR = 0.589, p = 0.066) or recessive models (OR = 0.639, p = 0.7716). The MAF of rs11884064 was found to be 0.24 and 0.25 in NTG cases and controls, respectively. For rs11884064 , no significant difference in genotype distribution was observed between NTG cases and controls in allelic (OR = 0.938, p = 0.755), dominant (OR = 0.927, p = 0.798) or recessive models (OR = 0.920, p = 1.000). Conclusions The current study suggested that SRBD1 gene polymorphisms ( rs3213787 and rs11884064 ) may not be associated with genetic susceptibility to NTG in a Korean cohort. References 1. Writing Committee for the Normal Tension Glaucoma Genetic Study Group of Japan Glaucoma S, Meguro A, Inoko H, et al. Genome‐wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology 2010;117:1331–8 e5. 2. Gibson J, Griffiths H, De Salvo G, et al. Genome‐wide association study of primary open angle glaucoma risk and quantitative traits. Mol Vis 2012;18:1083–92. 3. Cao D, Jiao X, Liu X, et al. CDKN2B polymorphism is associated with primary open‐angle glaucoma (POAG) in the Afro‐Caribbean population of Barbados, West Indies. PLoS One 2012;7:e39278.