Lyyl Oxidae-like 1 Polymorphim and Exfoliation yndrome in the Japanee Population Original Reearch Article

Purpoe To invetigate the contribution of two ingle-nucleotide polymorphim (NP) of the lyyl oxidae-like 1 (LOXL1) gene, recently hown to be aociated with exfoliation yndrome (XF) and exfoliation glaucoma (XFG) in the Nordic population, to the occurrence of XF and XFG in the Japanee population. Deign Cae-control aociation tudy. Method A total of 59 unrelated Japanee individual with XF, 27 XFG patient, and 190 population-baed control were recruited. The NP r1048661 (R141L) and r3825942 (G153D) in the LOXL1 gene were genotyped directly. Aociation tet were performed for the two NP and inferred haplotype. Reult The frequency of the G allele in r1048661, reportedly a functional rik allele in White peron, exited in only 0.8% of Japanee XF cae, but occurred with much higher frequency in control (46.0%) and yielded a P value of 3.0 × 10−19, and the odd ratio for the T allele in r1048661 wa 99.8 (95% confidence interval, 13.8 to 722). For r3825942, the frequency of the G allele, which i another poible rik allele in White peron with XF, wa 1.000 v 0.857 in the control (P = 1.4 × 10−5). The mot frequent haplotype in Japanee XF patient wa haplotype (T,G) (99.2%). The (G,G) haplotype, which generate the highet rik in White peron, wa preent in only a mall percentage of Japanee XF cae (0.8%). Concluion The NP r1048661 and r3825942 of the LOXL1 gene eem to be highly aociated with XF in the Japanee population, but a different polymorphim of LOXL1 may caue the development of XF in the Japanee population.