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Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population.
Mol Vis. 2013; 19:114-20.MV

Abstract

PURPOSE

To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population.

METHODS

Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects.

RESULTS

The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198-0.564, p=2.54 × 10(-5)) and XFG (OR=0.366, 95% CI: 0.219-0.611, p=8.56 × 10(-5)) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003-0.188, p=3.69×10(-9)). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45 × 10(-8)) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358-0.776, p=0.001).

CONCLUSIONS

The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.

Authors+Show Affiliations

Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.No affiliation info availableNo 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

23378724

Citation

Kasım, Burcu, et al. "Association of LOXL1 Gene Polymorphisms With Exfoliation Syndrome/glaucoma and Primary Open Angle Glaucoma in a Turkish Population." Molecular Vision, vol. 19, 2013, pp. 114-20.
Kasım B, İrkeç M, Alikaşifoğlu M, et al. Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population. Mol Vis. 2013;19:114-20.
Kasım, B., İrkeç, M., Alikaşifoğlu, M., Orhan, M., Mocan, M. C., & Aktaş, D. (2013). Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population. Molecular Vision, 19, 114-20.
Kasım B, et al. Association of LOXL1 Gene Polymorphisms With Exfoliation Syndrome/glaucoma and Primary Open Angle Glaucoma in a Turkish Population. Mol Vis. 2013;19:114-20. PubMed PMID: 23378724.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population. AU - Kasım,Burcu, AU - İrkeç,Murat, AU - Alikaşifoğlu,Mehmet, AU - Orhan,Mehmet, AU - Mocan,Mehmet Cem, AU - Aktaş,Dilek, Y1 - 2013/01/28/ PY - 2012/07/25/received PY - 2013/01/24/accepted PY - 2013/2/5/entrez PY - 2013/2/5/pubmed PY - 2013/9/7/medline SP - 114 EP - 20 JF - Molecular vision JO - Mol Vis VL - 19 N2 - PURPOSE: To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. METHODS: Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. RESULTS: The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198-0.564, p=2.54 × 10(-5)) and XFG (OR=0.366, 95% CI: 0.219-0.611, p=8.56 × 10(-5)) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003-0.188, p=3.69×10(-9)). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45 × 10(-8)) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358-0.776, p=0.001). CONCLUSIONS: The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/23378724/Association_of_LOXL1_gene_polymorphisms_with_exfoliation_syndrome/glaucoma_and_primary_open_angle_glaucoma_in_a_Turkish_population_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23378724/ DB - PRIME DP - Unbound Medicine ER -