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 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.
Yang
Xian
X
Department of Ophthalmology & Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
Zabriskie
Norman A
NA
Hau
Vincent S
VS
Chen
Haoyu
H
Tong
Zongzhong
Z
Gibbs
Daniel
D
Farhi
Parisa
P
Katz
Bradley J
BJ
Luo
Ling
L
Pearson
Erik
E
Goldsmith
Jason
J
Ma
Xiang
X
Kaminoh
Yukki
Y
Chen
Yuhong
Y
Yu
Baifeng
B
Zeng
Jiexi
J
Zhang
Kang
K
Yang
Zhenglin
Z
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
D017931:DNA Primers; D004549:Elastin; D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human