title: Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort.
abstract: 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 XFG in a Utah Caucasian cohort. After a standard eye examination protocol we genotyped SNPs rs2165241and rs3825942 in 62 XFG or exfoliation syndrome (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 = 4.13 x 10(-9)) for an additive model, OR(het) = 4.42 (2.30-8.50), OR(hom) = 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 = 1.89 x 10(-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.
authors.affiliation: Department of Ophthalmology & Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
authors.forename: Xian
authors.initials: X
authors.lastname: Yang
authors.forename: Norman A
authors.initials: NA
authors.lastname: Zabriskie
authors.forename: Vincent S
authors.initials: VS
authors.lastname: Hau
authors.forename: Haoyu
authors.initials: H
authors.lastname: Chen
authors.forename: Zongzhong
authors.initials: Z
authors.lastname: Tong
authors.forename: Daniel
authors.initials: D
authors.lastname: Gibbs
authors.forename: Parisa
authors.initials: P
authors.lastname: Farhi
authors.forename: Bradley J
authors.initials: BJ
authors.lastname: Katz
authors.forename: Ling
authors.initials: L
authors.lastname: Luo
authors.forename: Erik
authors.initials: E
authors.lastname: Pearson
authors.forename: Jason
authors.initials: J
authors.lastname: Goldsmith
authors.forename: Xiang
authors.initials: X
authors.lastname: Ma
authors.forename: Yukki
authors.initials: Y
authors.lastname: Kaminoh
authors.forename: Yuhong
authors.initials: Y
authors.lastname: Chen
authors.forename: Baifeng
authors.initials: B
authors.lastname: Yu
authors.forename: Jiexi
authors.initials: J
authors.lastname: Zeng
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D004549:Elastin / Q000378:metabolism*; D017889:Exfoliation Syndrome / Q000150:complications* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D014589:Utah; D044465:White People
chemical_list: D017931:DNA Primers; D004549:Elastin; D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human