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F. Mabuchi, Y. Sakurada, K. Kashiwagi, Z. Yamagata, H. Iijima, S. Tsukahara; Association of the Loxl1 Gene Polymorphism With Primary Open Angle Glaucoma and Exfoliation Syndrome in the Japanese Population. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5118.
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© ARVO (1962-2015); The Authors (2016-present)
To assess whether the lysyl oxidase-like 1 (LOXL1) gene polymorphism is associated with primary open angle glaucoma (POAG) and exfoliation syndrome (XFS) in the Japanese population.
Genomic DNA was examined in 213 Japanese patients with POAG, 89 patients with XFS, and 191 control subjects. The mean age at the time of blood sampling was 62.9 ± 14.8 years (SD) in patients with POAG, 76.5 ± 6.6 years in patients with XFS, and 65.7 ± 11.4 years in the control subjects. Two nonsynonymous SNPs, rs1048661 (758G/T, Arg141Leu) and rs3825942 (794G/A, Gly153Asp), both located in the first exon of LOXL1 gene, were genotyped using restriction fragment length polymorphism analysis, and genotypic and allelic frequency differences between POAG, XFS patients and control subjects were estimated. We also used a logistic regression model to simultaneously study the effect of multiple variables when comparing the XFS patients with the control subjects. The predictor variables were age, gender, and TT/GG compound genotype of rs1048661 and rs3825942.
Although no statistically significant differences of the genotype and allele frequencies were found between the POAG patients and the control subjects, there was a significant difference in the genotype frequencies of rs1048661 and rs3825942 between the XFS patients and control subjects (P < 0.0001, Chi-square test). The frequencies of the T allele of rs1048661 and G allele of rs3825942 were significantly higher in patients with XFS compared to the control subjects (rs1048661: 99.4% vs. 55.0%, rs3825942: 99.4% vs. 85.3%, P < 0.0001, Fisher’s exact test). All patients with XFS had TT/GG compound genotype of rs1048661 and rs3825942 without only one XFS patient with TG/AG compound genotype, and there was a significant difference in the compound genotype frequencies between the XFS patients and control subjects (P < 0.0001, Chi-square test). Adjusted for age and gender, an almost 250 increased risk of XFS (P < 0.0001, odds ratio 252.2, 95% confidence interval 32.7 to more than 1000) was found with the TT/GG compound genotype compared to no TT/GG compound genotype.
The LOXL1 gene polymorphisms were associated with XFS. However, frequencies of allele, genotype, and compound genotype of these two SNPs in Japanese patients with XFS were different from those in Caucasian patients with XFS.
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