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Abstract #82417 Published in IGR 20-4
Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea
Jung SH; Lee YC; Lee MY; Shin HYCurrent Eye Research 2020; 45: 521-525
: Ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 () was identified as a novel gene for glaucoma. Since then, there have been reports on the association of with glaucoma in various ethnic populations. In these studies, patients with different glaucoma types were included. Thus, we investigated the relationship between and NTG in a Korean cohort.: Whole-exome sequencing was performed to identify the variants in one patient with a strong NTG family history. A total of 263 participants, comprising 157 NTG patients and 106 control subjects, were analyzed for gene single nucleotide polymorphisms (SNPs).: Nine variants of the gene were identified using whole-exome sequencing analysis, including four exonic SNPs. Of the exonic variants, three were known polymorphisms (, and ), and one was newly reported (. A nonsynonymous variant, was predicted as functionally damaging using PolyPhen-2. The exonic SNPs were compared against gene sequences of the control group in the NTG cohort. However, the minor allele frequency (MAF) of was found to be 0.029 and 0.038 in NTG cases and control subjects, respectively. The MAF of was found to be 0.096 and 0.118 in NTG cases and control subjects, respectively, and the MAF of was found to be 0.220 and 0.245 in NTG cases and control subjects, respectively, which were higher than those reported by previous studies. Genetic association analysis of four SNPs revealed no significant difference in genotype distribution between NTG cases and control subjects in allelic, dominant, or recessive models (all, > .05).: The present study indicated that the MAFs of ASB10 gene polymorphisms showed a large difference among various ethnic groups, and that gene polymorphisms may not be associated with genetic susceptibility to NTG in a Korean cohort.
Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Full articleClassification:
9.2.4 Normal pressure glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
