IOVS
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
QUICK SEARCH:   [advanced]


     

P<P, published online ahead of print April 30, 2008
(Investigative Ophthalmology and Visual Science. )
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.08-1805
This Article
Right arrow Full Text (P<P[PDF])
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Google Scholar
Right arrow Articles by Ozaki, M.
Right arrow Articles by Aung, T.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ozaki, M.
Right arrow Articles by Aung, T.

Article

Association of LOXL1 Gene Polymorphisms with Pseudoexfoliation in the Japanese

Mineo Ozaki 1, Kelvin Y Lee 2, Eranga N Vithana 2, Victor H Yong 2, Anbupalam Thalamuthu 3, Takanori Mizoguchi 4, Anandalakshmi Venkatraman 2, and Tin Aung 5*

1 University of Miyazaki, Miyazaki, Japan
2 Singapore Eye Research Institute, Singapore, Singapore
3 Genome Institute of Singapore, Singapore, Singapore
4 Mizoguchi Eye Clinic, Sasebo, Japan
5 Singapore National Eye Centre, 11 Third Hospital Avenue, Singapore, 168751, Singapore

* To whom correspondence should be addressed. E-mail: tin11{at}pacific.net.sg.


  Abstract

Purpose: Single nucleotide polymorphisms (SNPs) rs1048661, rs3825942 and rs2165241 within the LOXL1 gene was recently found to confer risk to pseudoexfoliation glaucoma (XFG) through pseudoexfoliation syndrome (XFS) in Caucasians. The aim of this study was to test this association in Japanese subjects with XFS/XFG. Methods: Japanese subjects with clinically diagnosed XFS/XFG and normal controls were recruited. Genomic DNA was extracted and the 3 SNPs of LOXL1 gene were genotyped by bi-directional sequencing. The association of individual SNPs with XFG/XFS was evaluated using chi-square and Fishers exact test. Results: 209 Japanese patients (106XFG and 103XFS) and 172 controls were studied. Strong associations were observed for all 3 SNPs of LOXL1 for XFS (OR=13.56, P=3.39x10-28 for allele T of rs1048661; OR=10.71, P=1.49x10-7 for allele G of rs3825942 and OR=4.55, P=5.33x10-4 for allele C of rs2165241) and XFG (OR=25.21, P=1.44x10-34 for allele T of rs1048661; OR=11.02, P=1.40x10-7 for allele G of rs3825942 and OR=11.89, P= 4.76x10-6 for allele C of rs2165241). The risk-associated alleles of rs1048661 and rs2165241 differed between the Japanese and Caucasians, whilst allele G of rs3825942 was associated with disease in both populations. Conditional analysis indicated that rs3825942 was not independent but was highly correlated to rs1048661. The at-risk haplotype T-G-C was present approximately two times higher (94.7% vs 50.6%, P=4.22x10-43) in cases than controls and conferred a 2.9 (95%CI: 2.357-3.464) fold increased likelihood of XFS. Conclusions: Polymorphisms in the LOXL1 gene confer risk to XFS/XFG in the Japanese, but there are different risk-associated alleles and haplotypes in the Japanese.

Key Words: genetic diseases, glaucoma, glaucoma anterior segment






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2008 by the Association for Research in Vision and Ophthalmology