Lack of correlation between S1 RNA binding domain 1 SNP rs3213787/rs11884064 and normal-tension glaucoma in a population from the Republic of Korea.

Published on Jun 19, 2020in Medicine1.889
· DOI :10.1097/MD.0000000000020066
Seung-Hyun Jung21
Estimated H-index: 21
(Catholic University of Korea),
Young Chun Lee9
Estimated H-index: 9
(Catholic University of Korea)
+ 1 AuthorsHye-Young Shin10
Estimated H-index: 10
(Catholic University of Korea)
Sources
Abstract
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.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.The minor allele frequency 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 = .063), dominant (OR = 0.589, P = .066) or recessive models (OR = 0.639, P = .7716). The minor allele frequency 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 = .755), dominant (OR = 0.927, P = .798) or recessive models (OR = 0.920, P = 1.000).The current study suggested that SRBD1 gene polymorphisms (rs3213787 and rs11884064) may not be associated with genetic susceptibility to NTG in a Korean cohort.
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#1Sangmoon Lee (SNU: Seoul National University)H-Index: 11
#2Jihae Seo (Ewha Womans University)H-Index: 9
Last. Murim Choi (SNU: Seoul National University)H-Index: 54
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Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has resulted in unintended reduction of power in studying non-Caucasians. Here we report a compilation of coding variants from 1,055 healthy Korean individuals (KOVA; Korean Variant Archive). The samples were sequenced to a mean depth of 75x, yielding 101 singleton variants per individual. Population genetics analysis demonstrates that the Korean ...
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#1Fumihiko Mabuchi (University of Yamanashi)H-Index: 22
#2Yoichi Sakurada (University of Yamanashi)H-Index: 8
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Purpose To investigate the associations between the non–intraocular pressure (IOP)–related genetic variants (genetic variants associated with vulnerability of the optic nerve independent of IOP) and primary open-angle glaucoma (POAG), including normal-tension glaucoma (NTG) and high-tension glaucoma (HTG), and between the non-IOP-related genetic variants and a family history of glaucoma. Design Case-control study. Methods Japanese patients with NTG (n = 213) and HTG (n = 212) and 191 control sub...
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#1Sarah F. Janssen (KNAW: Royal Netherlands Academy of Arts and Sciences)H-Index: 10
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#1Chang-Sik Kim (CNU: Chungnam National University)H-Index: 14
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