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Y. Tang, Y. Picornell, X. Li, H. Yang, Y. Rabinowitz; VSX1 Gene: Three Single Nucleotide Polymorphisms (L159M, R166W and H244R) Are Not Associated With Keratoconus . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5555.
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© ARVO (1962-2015); The Authors (2016-present)
Keratoconus (KC) is a corneal dystrophy with an incidence of approximately 1 in 2,000 in the general population. It is a major cause of visual disability worldwide and a leading cause for cornea transplantation in Western developed countries. Segregation analysis supports a genetic basis for this disease. A recent study reported three novel single nucleotide polymorphisms (SNPs) with amino acid changes in VSX1 gene (L159M, R166W and H244R) associated with KC disorder by direct sequencing.
In an attempt to confirm these observations, we genotyped the same polymorphisms in a case–control panel (74 KC patients and 73 normal controls) and a KC familial panel (444 individuals from 78 families) using the TaqMan Allelic Discrimination assay (L159M and R166W) and the RFLP assay (H244R).
We observed no polymorphisms of R166W, neither in the case–control panel nor in the familial panel. We observed 3 heterozygous of H244R polymorphism only in familial KC panel. Among them, 2 heterozygous subjects were affected MZ and the other was an unaffected. We observed 1 heterozygous of L159M polymorphism in the normal group of the case–control panel, and 5 heterozygous in familiar KC panel with 3 affected and 2 unaffected.
Statistical analysis does not support the association of these VSX1 SNPs with KC disorder in our sample sets. Our observation is contradict with the previous report.
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