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Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population.
Ophthalmic Genet. 2016; 37(1):25-30.OG

Abstract

PURPOSE

To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG).

MATERIALS AND METHODS

The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing.

RESULTS

The G allele and the GG genotype of SNP rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p = 3.36 × 10(-5), OR = 5.71, 95% CI: 2.30-14.18; p = 3.38 × 10(-5), OR = 6.91, 95% CI: 2.51-19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p = 2.50 × 10(-4), OR = 2.18, 95% CI: 1.43-3.33; p = 1.21 × 10(-2), OR = 2.13, 95% CI: 1.75-3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were similar between XFS and XFG.

CONCLUSIONS

This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe. However rs1048661 SNP did not show an association with XFS.

Authors+Show Affiliations

a Department of Ophthalmology , University Hospital of Salamanca . b Institute for Biomedical Research of Salamanca (IBSAL) .a Department of Ophthalmology , University Hospital of Salamanca .a Department of Ophthalmology , University Hospital of Salamanca . b Institute for Biomedical Research of Salamanca (IBSAL) .a Department of Ophthalmology , University Hospital of Salamanca .a Department of Ophthalmology , University Hospital of Salamanca . b Institute for Biomedical Research of Salamanca (IBSAL) .c Molecular Medicine Unit, Department of Medicine , University of Salamanca .d Department of Medicine , University of Salamanca , and.b Institute for Biomedical Research of Salamanca (IBSAL) . c Molecular Medicine Unit, Department of Medicine , University of Salamanca . e Institute of Molecular and Cellular Biology of Cancer (BMCC), University of Salamanca-CSIC , Salamanca , Spain.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24892565

Citation

de Juan-Marcos, Lourdes, et al. "Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population." Ophthalmic Genetics, vol. 37, no. 1, 2016, pp. 25-30.
de Juan-Marcos L, Escudero-Domínguez FA, Hernández-Galilea E, et al. Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population. Ophthalmic Genet. 2016;37(1):25-30.
de Juan-Marcos, L., Escudero-Domínguez, F. A., Hernández-Galilea, E., Cabrillo-Estévez, L., Cruz-González, F., Cieza-Borrella, C., Sánchez-Barba, M., & González-Sarmiento, R. (2016). Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population. Ophthalmic Genetics, 37(1), 25-30. https://doi.org/10.3109/13816810.2014.921316
de Juan-Marcos L, et al. Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population. Ophthalmic Genet. 2016;37(1):25-30. PubMed PMID: 24892565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population. AU - de Juan-Marcos,Lourdes, AU - Escudero-Domínguez,Francisco A, AU - Hernández-Galilea,Emiliano, AU - Cabrillo-Estévez,Lucía, AU - Cruz-González,Fernando, AU - Cieza-Borrella,Clara, AU - Sánchez-Barba,Mercedes, AU - González-Sarmiento,Rogelio, Y1 - 2014/06/03/ PY - 2014/6/4/entrez PY - 2014/6/4/pubmed PY - 2016/9/15/medline KW - Genetics KW - LOXL1 KW - glaucoma KW - polymorphisms KW - pseudoexfoliation SP - 25 EP - 30 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 37 IS - 1 N2 - PURPOSE: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG). MATERIALS AND METHODS: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing. RESULTS: The G allele and the GG genotype of SNP rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p = 3.36 × 10(-5), OR = 5.71, 95% CI: 2.30-14.18; p = 3.38 × 10(-5), OR = 6.91, 95% CI: 2.51-19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p = 2.50 × 10(-4), OR = 2.18, 95% CI: 1.43-3.33; p = 1.21 × 10(-2), OR = 2.13, 95% CI: 1.75-3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were similar between XFS and XFG. CONCLUSIONS: This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe. However rs1048661 SNP did not show an association with XFS. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/24892565/Association_of_Lysyl_Oxidase_Like_1_Gene_Polymorphisms_in_Pseudoexfoliation_Syndrome_and_Pseudoexfoliation_Glaucoma_in_a_Spanish_Population_ L2 - https://www.tandfonline.com/doi/full/10.3109/13816810.2014.921316 DB - PRIME DP - Unbound Medicine ER -