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Y. Liu, S. Schmidt, X. Qin, J. Gibson, K. Hutchins, C. Santiago-Turla, P. Challa, L. W. Herndon, M. A. Hauser, R. R. Allingham; No Association Between LOXL1 Variants and Primary Open-Angle Glaucoma in Three Different Populations. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1723.
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Significant association has recently been reported between variants in the lysyl oxidase-like 1 gene (LOXL1) (rs3825942 and rs2165241) and exfoliation glaucoma (XFG). We have investigated the association of these and other tagging SNPs (single nucleotide polymorphisms) in the LOXL1 gene with primary open-angle glaucoma (POAG) in the Caucasian, African-American, and Ghanaian (West African) populations.
POAG was defined as the presence of glaucomatous optic nerve damage, associated visual field loss, and elevated intraocular pressure (>21 mm of mercury in both eyes). Thirteen tagging SNPs in the LOXL1 gene were genotyped by TaqMan allelic discrimination assays in the Caucasian (279 cases, 227 controls), African American (193 cases, 97 controls), and Ghanaian (170 cases, 138 controls) populations. Allele and genotype frequencies were compared between the cases and controls from each population.
None of the SNPs associated with XFG were significantly associated with POAG in these populations. The allele frequencies of rs3825942 and rs2165241 in these populations were shown below.
There was no significant association between SNPs in the LOXL1 gene and POAG. This is the first analysis of the LOX1 gene with POAG in the African American and West African populations. LOXL1 gene variants do not appear to play a significant role in the pathogenesis of POAG in these populations.
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