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M. Jaimes, D. Rivera, G. Valdes, J. C. Zenteno; Prevalence of Lysil Oxidase Like 1 (LOXL1) Polymorphisms in Mexican Population With Pseudoexfoliation Syndrome and Secondary Glaucoma. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2770.
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© ARVO (1962-2015); The Authors (2016-present)
Pseudoexfoliation syndrome (PEX) is the leading cause of secondary glaucoma. The diagnosis of the syndrome is made on clinical basis but recently it has been associated with 3 high risk SNPs in different populations. The purpose of this study was to describe the prevalence of the high risk polymorphisms as well as to establish an association between the SNPs and the disease in Mexican population with the syndrome with or without glaucoma.
We recruited 100 patients with PEX syndrome (57 with secondary glaucoma/43 without glaucoma) and 100 healthy subjects and performed a DNA sequence analysis for the intronic rs2165241 SNP of LOXL1 and for rs1048661 (R141L) and rs3825942 (G153D) in LOXL1 exon-1. Descriptive statistics were performed and an odds ratio calculation to determine the risk of the disease in the groups. Three groups were determined: all patients with PEX, subsequently this group was subdivided into two groups; patients with PEX without glaucoma (PEXO), and PEX with glaucoma (GPEX).
The mean age differences in all groups were not statistically significant. The logMAR visual acuity was significantly lower in the GPEX group, and this group had also the highest IOP and optic nerve cup-disc ratio (p<0.05).The prevalence of the exonic high risk allele rs3825942 (G153D) (GA/GG)) was: 2.7/95.8 % in control patients, 0/100% in PEX, 0/100% in PEXO and 0/100% in GPEX. The wild type allele (A) was not observed in any patient from the PEXO and GPEX groups. All other alleles did not reach statistical significance.The prevalence of the intronic high risk allele rs2165241 (CT/TT), considering the genotypes CC/CT/TT were: 21.3/47.5/31.1% in control patients, 8.4/47.1/49.5% in PEX, 9.5/47.6/42.9% in PEXO and 7.5/41.5/50.9% in GPEX. There was an OR for PEX of 0.33 for allele CC (p=0.02) and an OR of 2.16 for allele TT (p=0.023) and an OR for GPEX of 0.30 for allele CC (p=0.039) and an OR of 2.29 for allele TT (p=0.031). All other alleles did not reach statistical significance.
This study describes the association between the high risk LOXL1 SNPs and PEX in mexican population, a previously unstudied group. It points that some SNPs show a positive association with both PEX and GPEX. These findings are similar to those described by other authors in other populations in north America and Europe. Nevertheless more studies in other ethnic groups are needed to continue determining the LOXL1 influence in PEX.This work was partially supported by CONACyT and Conde de Valenciana Foundation.
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