Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea

Seung-Hyun Jung, Young Chun Lee, Mee Yon Lee, Hye-Young Shin
2019 Figshare  
Purpose: Ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) was identified as a novel gene for glaucoma. Since then, there have been reports on the association of ASB10 with glaucoma in various ethnic populations. In these studies, patients with different glaucoma types were included. Thus, we investigated the relationship between ASB10 and NTG in a Korean cohort. Methods: Whole-exome sequencing was performed to identify the ASB10 variants in one patient with
more » ... 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 ASB10 gene single nucleotide polymorphisms (SNPs). Results: Nine variants of the ASB10 gene were identified using whole-exome sequencing analysis, including four exonic SNPs. Of the exonic variants, three were known polymorphisms (rs3800791, rs2253592, and rs77615410), and one was newly reported (rs552803353). A nonsynonymous variant, rs552803353 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 rs552803353 was found to be 0.029 and 0.038 in NTG cases and control subjects, respectively. The MAF of rs3800791 was found to be 0.096 and 0.118 in NTG cases and control subjects, respectively, and the MAF of rs77615410 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 ASB10 SNPs revealed no significant difference in genotype distribution between NTG cases and control subjects in allelic, dominant, or recessive models (all, P > .05). Conclusions: The present study indicated that the MAFs of ASB10 gene polymorphisms showed a large difference among various ethnic groups, and that ASB10 gene polymor [...]
doi:10.6084/m9.figshare.9944336 fatcat:svkz2jdpl5dvjdzy45tszrbri4