PURPOSE: 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 Nordic population, to the occurrence of XFS and XFG in the Japanese population. DESIGN: Case-control association study. METHODS: 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. RESULTS: The frequency of the G allele in rs1048661, reportedly a functional risk allele in White persons, 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 3.0x10(-19), and the odds ratio for the T allele in rs1048661 was 99.8 (95% confidence interval, 13.8 to 722). For rs3825942, the frequency of the G allele, which is another possible risk allele in White persons with XFS, was 1.000 vs 0.857 in the controls (P=1.4x10(-5)). The most frequent haplotype in Japanese XFS patients was haplotype (T,G) (99.2%). The (G,G) haplotype, which generates the highest risk in White persons, was present in only a small percentage of Japanese XFS cases (0.8%). CONCLUSIONS: The SNPs rs1048661 and rs3825942 of the LOXL1 gene seem 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.
PURPOSE: 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 Nordic population, to the occurrence of XFS and XFG in the Japanese population. DESIGN: Case-control association study. METHODS: 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. RESULTS: The frequency of the G allele in rs1048661, reportedly a functional risk allele in White persons, 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 3.0x10(-19), and the odds ratio for the T allele in rs1048661 was 99.8 (95% confidence interval, 13.8 to 722). For rs3825942, the frequency of the G allele, which is another possible risk allele in White persons with XFS, was 1.000 vs 0.857 in the controls (P=1.4x10(-5)). The most frequent haplotype in Japanese XFSpatients was haplotype (T,G) (99.2%). The (G,G) haplotype, which generates the highest risk in White persons, was present in only a small percentage of Japanese XFS cases (0.8%). CONCLUSIONS: The SNPs rs1048661 and rs3825942 of the LOXL1 gene seem 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.
Authors: Haoyu Chen; Li Jia Chen; Mingzhi Zhang; Weifeng Gong; Pancy Oi Sin Tam; Dennis Shun Chiu Lam; Chi Pui Pang Journal: Mol Vis Date: 2010-02-06 Impact factor: 2.367
Authors: Susan E I Williams; Benjamin T Whigham; Yutao Liu; Trevor R Carmichael; Xuejun Qin; Silke Schmidt; Michele Ramsay; Michael A Hauser; R Rand Allingham Journal: Mol Vis Date: 2010-04-21 Impact factor: 2.367
Authors: Georg Mossböck; Martin Weger; Christoph Faschinger; Christine Zimmermann; Otto Schmut; Wilfried Renner; Yosuf El-Shabrawi Journal: Mol Vis Date: 2010-08-28 Impact factor: 2.367
Authors: Tanya T Khan; Guorong Li; Iris D Navarro; Rama D Kastury; Carol J Zeil; Taras M Semchyshyn; Frank J Moya; David L Epstein; Pedro Gonzalez; Pratap Challa Journal: Mol Vis Date: 2010-11-02 Impact factor: 2.367