Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese.

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 freque

SUBMITTER: Fuse N 

PROVIDER: S-EPMC2480481 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature