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H. Hayashi, N. Gotoh, Y. Ueda, T. Kimura, K. Tamura, M. Umemoto, Y. Yamaguchi, H. Nakanishi, M. Hangai, N. Yoshimura; Lysyl Oxidase-like 1 Polymorphisms and Exfoliation - Syndrome in the Japanese Population. Invest. Ophthalmol. Vis. Sci. 2008;49(13):463.
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To investigate the contribution of two single-nucleotide polymorphisms (SNPs) of the lysyl oxidase-like 1 (LOXL1) gene, recently shown to be associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in the Caucasian population ( Thoreleifsson et al. Science 317:1397-1400;2007, Fingert et al. Am J Ophthalmol 144:974-975; 2007, Hewitt et al, Hum Mol Genet, 2007 forthcoming) and , to the occurrence of XFS and XFG in the Japanese population.
A total of 59 unrelated Japanese individuals with XFS, 27 XFG patients and 190 population-based controls were recruited. The SNPs rs1048661 (R141L) and rs3825942 (G153D) in the LOXL1 gene were genotyped directly. Association tests were performed for the two SNPs and inferred haplotypes.
The frequency of the G allele in rs1048661, reportedly a functional risk allele in Caucasians, existed in only 0.8% of Japanese XFS cases, but occurred with much higher frequency in controls (46.0%) and yielded a P value of 3.0 x 10<sup>-19</sup> and the odds ratio for the T allele in rs1048661 was 99.8 (95% CI, 13.8-722). For rs3825942, the frequency of the G allele, which is another possible risk allele in Caucasians with XFS, was 1.000 versus 0.857 in the controls (P = 1.4 x 10<sup>-5</sup>). The most frequent haplotype in Japanese XFS patients was haplotype (T,G) (99.2%). The (G,G) haplotype, which generates the highest risk in Caucasians, was present in only a small percentage of Japanese XFS cases (0.8%).
The SNPs rs1048661 and rs3825942 of the LOXL1 gene seems to be highly associated with XFS in the Japanese population, but a different polymorphism of LOXL1 may cause the development of XFS in the Japanese population.
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