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Jeewon Mok, Choun-Ki Joo; ALDH3A1 variations are strongly associated with susceptibility to Keratoconus patients in Korean. Invest. Ophthalmol. Vis. Sci. 2017;58(8):5658.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the possibility of cornea remodeling related gene, aldehyde dehydrogenase 3A1 (ALDH3A1), as potential susceptibility candidate gene for Korean Keratoconus patients, we investigated whether SNPs of ALDH3A1 are associated with the Keratoconus patients.
Genomic DNA was extracted from blood samples of unrelated 200 Keratoconus patients, visited the Eye Center of Seoul St. Mary’s Hospital. To screen genetic variations in ALDH3A1, we investigated using polymerase chain reaction and direct sequencing. Control individuals were selected from the general population without Keratoconus.
In this study, we detected 5 SNPs (IVS3-193g>a, IVS3-170c>t, IVS3-62c>t, IVS3-43g>t, S134A) in exon 4, 4 SNPs (G309E, R314C, IVS7+33 c>t, IVS7+104 g>c) in exon 7, 3 SNPs (IVS7-41 g>t, IVS7-29 g>a, P329A;rs2228100) in exon 8 and 1 SNP (Y413Y) in exon 10. Among them, the *g/*a genotype of IVS3-193g>a (p=0.03, OR = 2.9), the *c/*t of IVS3-62 c>t (p=0.04, OR = 2.2), the *g/*t of IVS-43 g>t (p=0.03, OR = 2.9) and the *g/*a of IVS7-29 g>a (p=0.03, OR=1.9) were significantly different between patient and control groups. In exon 8, the *C/*C genotype (p=0.01, OR=2.1) and *C allele (p=0.03, OR=1.6) of rs2228100 (P329A) were strongly associated with the risk of Keratoconus in Korean population.
This is the first report of genetic variation screening of cornea remodeling related gene, ALDH3A1, in Korean keratoconus patients and our results suggested that genetic variations, ALDH3A1 gene seem to be associated with keratoconus predisposition in a Korean.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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