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Jeewon Mok, HeeJung Ju, Choun-Ki Joo; LOX and SPARC variations are associated with susceptibility to Keratoconus patients in Korean. Invest. Ophthalmol. Vis. Sci. 2016;57(12):653.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the possibility of cornea remodeling related genes, Lysyl oxidase (LOX) and Secreted protein acidic and rich in cysteine (SPARC) as potential susceptibility candidate gene for Korean Keratoconus patients, we investigated the association of SNPs of the two genes in Korean Keratoconus patients
Genomic DNA was extracted from blood samples of unrelated Keratoconus patients, visited the Eye Center of Seoul St. Mary’s Hospital. To screen genetic variations in LOX and SPARC, we investigated using polymerase chain reaction and direct sequencing. Control individuals were selected from the general population without Keratoconus
In this study, we detected 4 SNPs in LOX and 18 SNPs in SPARC. In LOX gene, the *g/*g genotype of rs10519694 in intron 4 (p=0.04, OR = 3.1) and the *A/*A genotype of rs180044 (R158Q) in exon 1 (p=0.004, OR=0.012) were significantly different between patient and control groups. In SPARC gene, the distribution of *a allele of IVS8-27 g>a (p<0.0001) and the *G allele of EX10+225 T>G (p=0.018, OR=1.869) were strongly associated with the risk of Keratoconus in Korean population. Particularly, *a allele of IVS8-27 g>a in SPARC was observed only in keratoconus patients.
These results suggest that the genetic variations of LOX and SPARC genes seem to be associated with keratoconus predisposition in a Korean. And also, we can conclude that *a allele of IVS8-27 g>a of SPARC gene might serve as a novel biomarker for the Keratoconus.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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