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Jeewon Mok, Kyung-Sun Na, Chang Rae Rho, Choun-Ki Joo; Genetic variations of MMPs and TIMPs genes are associated with susceptibility to Korean Keratoconus patients. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2514.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the possibility of cornea remodeling related genes, matrix metalloproteinases (MMPs) and tissue inhibitors of MMPs (TIMPs), as potential susceptibility candidate gene for Korean Keratoconus patients, we investigated the association of SNPs of the MMP 1, 2, 9 and TIMP 1, 3 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 anti-oxidant related genes, we investigated using polymerase chain reaction and direct sequencing. Control individuals were selected from the general population without Keratoconus
In this study, we detected 41 SNPs in MMPs and 18 SNPs in TIMPs. Among them, the *a allele of -734 g>a (p=0.001, OR = 13.33), the *c allele of -684 t>c (p=0.0001, OR=9.14) in 5’ UTR, the *g allele of IVS7+46 g>c (p=0.049, OR=1.97) and the *g allele of IVS7+166 g>t (p=0.038, OR=2.12) in MMP 2, and the *C allele of EX5+17 C>T (Asn280Asn, p=0.004, O.R. = 6.76) in MMP9 were significantly different between patient and control groups
This is the first report of genetic variation screening of cornea remodeling related genes in Korean keratoconus patients and our results suggested that genetic variations of MMP 2 and 9 genes seem to be associated with keratoconus predisposition in a Korean
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