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Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese.
Mol Vis. 2008 Jul 21; 14:1338-43.MV

Abstract

PURPOSE

To investigate the lysyl oxidase-like 1 (LOXL1) gene for single nucleotide polymorphism (SNP) variations in Japanese patients with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) and to examine the phenotypes of the patients with these variations.

METHODS

Fifty-six unrelated Japanese patients with XFS, including 36 patients with XFG, were studied. Genomic DNA was extracted from the leukocytes of peripheral blood, and three SNPs (rs1048661; p.Arg141Leu, rs3825942; p.Gly153Asp, and rs2165241) were identified. These SNPs were amplified by polymerase chain reaction (PCR), directly sequenced, and genotyped.

RESULTS

Two nonsynonymous variants in exon 1 of LOXL1,rs1048661 and rs3825942, were found to be strongly associated with XFS including XFG. The frequency of the T allele (0.964) in rs1048661 in eyes with XFS was much higher in controls (0.507) with a p value of 7.7x10(-18). The odds ratio for the T allele in rs1048661 was 26.0 (95% confidence interval, 18.3-37.1). In the haplotype analysis, T-G was overrepresented in XFS subjects (p=7.7x10(-18)), showing a highly significant difference in frequency between primary open-angle glaucoma (POAG) and the control group (p=0.07), but the G-G and G-A haplotypes were less represented in XFS subjects (p=1.1x10(-11) and p=1.0x10(-4), respectively). However, an earlier study reported the strongest associated SNP with XFS and XFG, rs2165241, showed no association.

CONCLUSIONS

SNPs of LOXL1 (rs1048661; Arg141Leu and rs3825942; Gly153Asp) are highly associated with XFS in the Japanese population. However, unidentified genetic or environmental factors independent of LOXL1 will most likely influence the phenotypic expression of the syndrome.

Authors+Show Affiliations

Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan. fusen@oph.med.tohoku.ac.jpNo 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

18648524

Citation

Fuse, Nobuo, et al. "Evaluation of LOXL1 Polymorphisms in Eyes With Exfoliation Glaucoma in Japanese." Molecular Vision, vol. 14, 2008, pp. 1338-43.
Fuse N, Miyazawa A, Nakazawa T, et al. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol Vis. 2008;14:1338-43.
Fuse, N., Miyazawa, A., Nakazawa, T., Mengkegale, M., Otomo, T., & Nishida, K. (2008). Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Molecular Vision, 14, 1338-43.
Fuse N, et al. Evaluation of LOXL1 Polymorphisms in Eyes With Exfoliation Glaucoma in Japanese. Mol Vis. 2008 Jul 21;14:1338-43. PubMed PMID: 18648524.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. AU - Fuse,Nobuo, AU - Miyazawa,Akiko, AU - Nakazawa,Toru, AU - Mengkegale,Mingge, AU - Otomo,Takaaki, AU - Nishida,Kohji, Y1 - 2008/07/21/ PY - 2008/04/09/received PY - 2008/07/14/accepted PY - 2008/7/24/pubmed PY - 2008/9/25/medline PY - 2008/7/24/entrez SP - 1338 EP - 43 JF - Molecular vision JO - Mol. Vis. VL - 14 N2 - PURPOSE: To investigate the lysyl oxidase-like 1 (LOXL1) gene for single nucleotide polymorphism (SNP) variations in Japanese patients with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) and to examine the phenotypes of the patients with these variations. METHODS: Fifty-six unrelated Japanese patients with XFS, including 36 patients with XFG, were studied. Genomic DNA was extracted from the leukocytes of peripheral blood, and three SNPs (rs1048661; p.Arg141Leu, rs3825942; p.Gly153Asp, and rs2165241) were identified. These SNPs were amplified by polymerase chain reaction (PCR), directly sequenced, and genotyped. RESULTS: Two nonsynonymous variants in exon 1 of LOXL1,rs1048661 and rs3825942, were found to be strongly associated with XFS including XFG. The frequency of the T allele (0.964) in rs1048661 in eyes with XFS was much higher in controls (0.507) with a p value of 7.7x10(-18). The odds ratio for the T allele in rs1048661 was 26.0 (95% confidence interval, 18.3-37.1). In the haplotype analysis, T-G was overrepresented in XFS subjects (p=7.7x10(-18)), showing a highly significant difference in frequency between primary open-angle glaucoma (POAG) and the control group (p=0.07), but the G-G and G-A haplotypes were less represented in XFS subjects (p=1.1x10(-11) and p=1.0x10(-4), respectively). However, an earlier study reported the strongest associated SNP with XFS and XFG, rs2165241, showed no association. CONCLUSIONS: SNPs of LOXL1 (rs1048661; Arg141Leu and rs3825942; Gly153Asp) are highly associated with XFS in the Japanese population. However, unidentified genetic or environmental factors independent of LOXL1 will most likely influence the phenotypic expression of the syndrome. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/18648524/Evaluation_of_LOXL1_polymorphisms_in_eyes_with_exfoliation_glaucoma_in_Japanese_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18648524/ DB - PRIME DP - Unbound Medicine ER -