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Dalia Guadarrama, Juan Zenteno, Antonio Miranda, Celia Elizondo; Association of the T allele of rs41435250 of LOXL1 with elevated risk of exfoliation syndrome and exfoliation glaucoma in a Mexican population. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1598.
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Pseudoexfoliation syndrome (XFS) is a major risk factor for developing pseudoexfoliation glaucoma (XFG). The disease has been associated with 3 high risk SNPs (rs3825942, rs1048661 and rs2165241) in the lysil oxidasa-like1 (LOXL1) gene. Particularly, the G allele of rs3825942 is considered the “universal” risk allele as it is consistently associated to XFS/XFG in distinct ethnic groups. Previous studies in Mexican population showed that the T allele of rs2165241 SNP confers a greater risk for XFS/XFG than the G allele of rs3825942 in that population. The purpose of this study was to investigate the association of an additional LOXL1 SNP with XFS/XFG risk in Mexican patients.
A total 102 subjects with PEX/PEG and 130 healthy adult controls were included. Genomic DNA was extracted from leukocytes, and the LOXL1 exon 1 coding sequence of LOXL1 was amplified by PCR and directly sequenced for genotyping the alleles of the rs41435250 SNP. STATA ver.10.0 statistical software package was utilized for calculations. Allele frequencies, HardyeWeinberg equilibrium (HWE) and haplotype association analyses were assessed with Haplo View 4.0 software.
The mean age in the patient group was 75 years and of 72 years in the control group. The rs41435250 TT genotype was associated with an elevated risk as it was observed in 3.92% of patients and in 1.54% controls (OR[95% CI]= 2.56 [0.44-14.58]; p= 0.004500); accordingly, the GG genotype for this SNP had a frequency of 85.38% in controls and 70.59% in patients and was associated with a protective effect: OR[95% CI]= 0.43 [0.22-0.83]; p= 0.013. Allele frequencies showed the same tendencies as mentioned for genotypes.
Our results indicate that the T allele of rs41435250 confers an elevated risk for the development of XFS/XFG in Mexican population.
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