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Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population.
Ophthalmic Genet. 2012 Mar; 33(1):12-7.OG

Abstract

PURPOSE

Pseudoexfoliation syndrome (XFS) is a major risk factor for exfoliation glaucoma (XFG). A significant association exists between XFG and several SNPs in the lysyl oxidase-like 1 (LOXL1) gene. The purpose of this study was to report the results of the first association study between LOXL1 polymorphisms and XFS and/or XFG in a Latin American population.

METHODS

Genotypes of three high-risk SNPs of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing. A case-control study was conducted with 102 unrelated XFS/XFG Mexican patients (42 XFS/60 XFG) as well as 97 control subjects. Allele frequencies, Hardy-Weinberg equilibrium, and haplotype association analysis were assessed with the Haplo View software.

RESULTS

The T allele of the intronic SNP rs2165241 was more frequent in XFS/XFG patients than in controls (OR [95% CI] = 2.41 [1.59-3.64]; p = 0.00001). The G allele of rs3825942 was found in a higher frequency in XFS/XFG than in controls (100% vs 95% respectively, p = 0.0019). No significant association between XFS and the rs1048661 (R141L) SNP was observed. The TGT haplotype was observed in a higher frequency in patients than in controls (p = 0.025), and produced the highest risk in our study (OR [95% CI] = 3.20 [1.09-9.39]; p = 0.025).

CONCLUSIONS

This is the first study associating LOXL1 gene polymorphism and XFS/XFG in Latin America. LOXL1 variants are associated with an elevated risk for XFS/XFG in the Mexican population. A higher risk was conferred by the T allele of the intronic rs2165241 SNP rather than by the worldwide "high-risk" G allele of rs3825942.

Authors+Show Affiliations

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" Mexico City, Mexico.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21970694

Citation

Jaimes, Martha, et al. "Prevalence of High-risk Alleles in the LOXL1 Gene and Its Association With Pseudoexfoliation Syndrome and Exfoliation Glaucoma in a Latin American Population." Ophthalmic Genetics, vol. 33, no. 1, 2012, pp. 12-7.
Jaimes M, Rivera-Parra D, Miranda-Duarte A, et al. Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population. Ophthalmic Genet. 2012;33(1):12-7.
Jaimes, M., Rivera-Parra, D., Miranda-Duarte, A., Valdés, G., & Zenteno, J. C. (2012). Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population. Ophthalmic Genetics, 33(1), 12-7. https://doi.org/10.3109/13816810.2011.615078
Jaimes M, et al. Prevalence of High-risk Alleles in the LOXL1 Gene and Its Association With Pseudoexfoliation Syndrome and Exfoliation Glaucoma in a Latin American Population. Ophthalmic Genet. 2012;33(1):12-7. PubMed PMID: 21970694.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population. AU - Jaimes,Martha, AU - Rivera-Parra,David, AU - Miranda-Duarte,Antonio, AU - Valdés,Gerardo, AU - Zenteno,Juan Carlos, Y1 - 2011/10/04/ PY - 2011/10/6/entrez PY - 2011/10/6/pubmed PY - 2012/3/30/medline SP - 12 EP - 7 JF - Ophthalmic genetics JO - Ophthalmic Genet. VL - 33 IS - 1 N2 - PURPOSE: Pseudoexfoliation syndrome (XFS) is a major risk factor for exfoliation glaucoma (XFG). A significant association exists between XFG and several SNPs in the lysyl oxidase-like 1 (LOXL1) gene. The purpose of this study was to report the results of the first association study between LOXL1 polymorphisms and XFS and/or XFG in a Latin American population. METHODS: Genotypes of three high-risk SNPs of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing. A case-control study was conducted with 102 unrelated XFS/XFG Mexican patients (42 XFS/60 XFG) as well as 97 control subjects. Allele frequencies, Hardy-Weinberg equilibrium, and haplotype association analysis were assessed with the Haplo View software. RESULTS: The T allele of the intronic SNP rs2165241 was more frequent in XFS/XFG patients than in controls (OR [95% CI] = 2.41 [1.59-3.64]; p = 0.00001). The G allele of rs3825942 was found in a higher frequency in XFS/XFG than in controls (100% vs 95% respectively, p = 0.0019). No significant association between XFS and the rs1048661 (R141L) SNP was observed. The TGT haplotype was observed in a higher frequency in patients than in controls (p = 0.025), and produced the highest risk in our study (OR [95% CI] = 3.20 [1.09-9.39]; p = 0.025). CONCLUSIONS: This is the first study associating LOXL1 gene polymorphism and XFS/XFG in Latin America. LOXL1 variants are associated with an elevated risk for XFS/XFG in the Mexican population. A higher risk was conferred by the T allele of the intronic rs2165241 SNP rather than by the worldwide "high-risk" G allele of rs3825942. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/21970694/Prevalence_of_high_risk_alleles_in_the_LOXL1_gene_and_its_association_with_pseudoexfoliation_syndrome_and_exfoliation_glaucoma_in_a_Latin_American_population_ L2 - http://www.tandfonline.com/doi/full/10.3109/13816810.2011.615078 DB - PRIME DP - Unbound Medicine ER -