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M. Ozaki, K. Y. Lee, T. Mizoguchi, V. H. Yong, A. Venkatraman, A. Thalamuthu, E. N. Vithana, T. Aung; Association of LOXL1 Gene with Pseudoexfoliation in the Japanese. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5865. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Pseudoexfoliation syndrome (XFS) is the most common identifiable cause of open angle glaucoma in most populations. A recent study from Iceland demonstrated that 3 single nucleotide polymorphisms (SNPs) rs2165241, rs1048661 and rs3825942 within the LOXL1 gene confer risk to pseudoexfoliation glaucoma (XFG), possibly through XFS. In this study, we analyzed these SNPs in Japanese patients with XFS and XFG from southern Japan.
Japanese patients with clinically diagnosed XFS/XFG and age-matched normal Japanese controls were recruited into the study. Genomic DNA was extracted and the 3 SNPs of LOXL1 gene were genotyped by bi-directional sequencing. The association of individual SNPs with glaucoma was evaluated using chi-square and Fishers exact test.
191 Japanese patients (100 XFG and 91 XFS) and 130 age-matched Japanese controls were recruited in the study. Strong associations were observed for all 3 SNPs of LOXL1 for XFG and XFS. The SNPs showed significant association to XFG with OR=26.3, P= 7.8e-033 for allele T of rs1048661; OR= 10.9, P=3.8e-007 for allele G of rs3825942 and OR=13.3, P= 2.2e-006 for allele C of rs2165241. In the XFS group, OR=14.26, P= 1.15e-025 for allele T of rs1048661; OR= 9.9, P=1.1e-006 for allele G of rs3825942 and OR=4.8, P= 4.6e-004 for allele C of rs2165241 were observed. Interestingly the risk associated alleles of rs1048661 and rs2165241 differed between the Japanese and the Icelandics whilst allele G of rs3825942 was associated with disease in both populations.
Polymorphisms in the LOXL1 gene confers risk to XFS/XFG in the Japanese. Our data suggest that rs3825942 within LOXL1 maybe the source of the association with XFS/XFG.
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