Purchase this article with an account.
Do Young Park, Hyun Kyung Cho, Changwon Kee; Evaluation of LOXL1 Polymorphism in Pseudoexfoliation Syndrome in the Korean Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4497.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
The purpose of this study was to evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with pseudoexfoliation syndrome (XFS) in the Korean population.
Sixty-four unrelated Korean patients with XFS and 103 control subjects were included in this study. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, rs2165241) were analyzed by direct sequencing, and a case-control association study was performed.
All three SNPs were significantly associated with XFS. The alleles of T at rs1048661 (OR[95%CI]: 13.56[4.80-38.34]) and C at rs2165241 (OR[95%CI]: 8.29[1.08-63.51]) were found to be risk alleles in Korean subjects, which were consistent findings in other Asian populations, but opposite to the report from Caucasian populations in which the risk alleles were G and T, respectively. At the rs3825942, the G allele (OR[95%CI]: 6.81[1.56-29.82]) was risk allele for XFS which was similar to the results from most other ethnics except black South African. In the haplotype analysis, the T-G-C haplotype composed of all three risk alleles was significantly overrepresented in XFS (p=1.9 x 10-10).
Three SNPs of LOXL1 (rs1048661, rs3825942, and 2165241) are highly associated with XFS in the Korean population. The risk alleles of these SNPs were similar to those of other Asian populations like Japanese or Chinese but differed from non-Asian populations, suggesting that still unidentified genetic or environmental factors may contribute to disease expression.
This PDF is available to Subscribers Only