Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort.

Exfoliation glaucoma (XFG) is the commonest identifiable cause of secondary open-angle glaucoma worldwide, characterized by the deposition of fibrillar proteins in the anterior segment of the eye. We investigated LOXL1 gene variants previously identified to confer susceptibility to exfoliation glaucoma (XFG) in a Utah Caucasian cohort. After a standard eye examination protocol we genotyped SNPs rs2165241 and rs3825942 in 62 XFG or XFS patients and 170 normal controls. Genotype frequency distribution, odds ratios (ORs), and population attributable risks were calculated for the risk alleles. The SNP rs2165241 was significantly associated with XFG and XFS (p=4.13x10-9 for an additive model, ORhet=4.42 (2.30-8.50), ORhom=34.19 (4.48-261.00); T allele: 83.1% in cases versus 52.4% in controls). Significant association was also found for rs3825942: (p=1.89x10-6). Our findings confirm genetic association of LOXL1 with XFG and XFS and implicate a potential role of cross linking of elastin in the pathogenesis of XFG. This information will potentially guide glaucoma monitoring efforts by targeting individuals whose genetic profiles put them at higher risk for XFG.


Cell Cycle. 2007 Nov 30;7(4)

Ma X B S, Zabriskie NA M D, Hau VS M D Ph D, Chen H M D Ph D, Tong Z Ph D, Yang X M D Ph D, Gibbs D B S, Katz BJ M D Ph D, Luo L M D, Pearson E B S, Goldsmith J M D, Kaminoh Y B S, Zeng J M D, Zhang K M D Ph D, Yang Z M D.
Department of Ophthalmology & Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, and Program in Human Molecular Biology & Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.