title: VSX1 gene variants are associated with keratoconus in unrelated Korean patients.
abstract: Keratoconus is a bilateral ectatic disorder characterized by the central thinning of corneal tissue leading to visual impairment. To investigate the possibility of visual system homeobox 1 (VSXI) as a candidate susceptibility gene for Korean patients with keratoconus, we performed a mutation screening of the VSXI gene in 249 unrelated patients with keratoconus and 208 control subjects without the ocular disorder. We found two heterozygous novel missense mutations in exon 2: N151S and G160V. The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%). We also detected three synonymous polymorphisms and four intragenic polymorphisms. The IVS1-11*a allele was associated with a significantly increased risk of keratoconus in Korean patients [3.6 vs. 0.5%, p = 0.001, odds ratio (OR) = 7.76, 95% confidence interval (CI) 1.989-30.241). Other polymorphisms did not show an association with keratoconus risk. Our data is the first reported VSX1 mutation screening in Korean keratoconus patients. We detected two novel missense mutations and one intragenic polymorphism in the VSX1 gene, which show a strong statistical association with unrelated keratoconus patients. Consequently, our study suggests that VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients.
authors.affiliation: Laboratory of Ophthalmology and Visual Science, Department of Ophthalmology and Visual Science, Catholic Research Institutes of Medical Science, Catholic University Medical College, The Catholic University of Korea, 505 Banpo-dong, Seocho-ku, Seoul, 137-701, South Korea.|Korea Eye Tissue and Gene Bank, St. Mary's Hospital, Seoul, South Korea.
authors.forename: Jee-Won
authors.initials: JW
authors.lastname: Mok
authors.affiliation: Laboratory of Ophthalmology and Visual Science, Department of Ophthalmology and Visual Science, Catholic Research Institutes of Medical Science, Catholic University Medical College, The Catholic University of Korea, 505 Banpo-dong, Seocho-ku, Seoul, 137-701, South Korea.|Korea Eye Tissue and Gene Bank, St. Mary's Hospital, Seoul, South Korea.
authors.forename: Sun-Jin
authors.initials: SJ
authors.lastname: Baek
authors.affiliation: Laboratory of Ophthalmology and Visual Science, Department of Ophthalmology and Visual Science, Catholic Research Institutes of Medical Science, Catholic University Medical College, The Catholic University of Korea, 505 Banpo-dong, Seocho-ku, Seoul, 137-701, South Korea. ckjoo@catholic.ac.kr.|Korea Eye Tissue and Gene Bank, St. Mary's Hospital, Seoul, South Korea. ckjoo@catholic.ac.kr.|Department of Ophthalmology, St. Mary's Hospital, Seoul, South Korea. ckjoo@catholic.ac.kr.
authors.forename: Choun-Ki
authors.initials: CK
authors.lastname: Joo
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D007723:Korea; D020641:Polymorphism, Single Nucleotide / Q000502:physiology
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C491583:VSX1 protein, human