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D. Pek, E. N. Vithana, A. Thalamuthu, S. Ho, A. Venkatraman, D. Venkataraman, T. Aung; Association of LOXL1 Gene Polymorphisms in Chinese Patients With Pseudoexfoliation Syndrome. Invest. Ophthalmol. Vis. Sci. 2009;50(13):866.
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Single nucleotide polymorphisms (SNPs) rs1048661 and rs3825942 within the Lysyl Oxidase Like-1 (LOXL1) gene were found to confer risk to pseudoexfoliation glaucoma (XFG) through pseudoexfoliation syndrome (XFS) in Nordic, Caucasian and in two Asiatic populations (Indian and Japanese). The reported prevalence (0.3-0.7%) of XFS in the Chinese is considerably lower compared to Nordic populations. The aim of this study was to test the LOXL1 association in Chinese subjects with XFS/XFG.
Chinese subjects with clinically diagnosed XFS/XFG and normal controls were recruited and the 2 SNPs of LOXL1 gene were genotyped by bi-directional sequencing. Allele and genotype frequencies were compared between cases and unrelated controls using PLINK. Haplotype association analysis was done with WHAP package.
62 Chinese patients (17 XFG and 45 XFS) and 171 controls were studied. The G allele of SNP rs3825942 of LOXL1 was moderately associated (OR=10.97, P=0.0018) with pseudoxfoliation in the Chinese. The frequency of the G allele of rs1048661 was not significantly different in cases compared to controls (P=0.142) in the allelic association test. However, the genotype test showed marginal association for rs rs1048661 (P=0.0304). Only three haplotypes were observed (T-G, G-G and G-A), with G-G as a risk haplotype (P=0.0033) and G-A as a protective haplotype (P=0.00039). T-G which was a risk haplotype in the Japanese was not associated with pseudoxfoliation in the Chinese (P=0.124).
Polymorphisms in the LOXL1 gene confer risk to XFS/XFG in the Chinese. However the low population prevalence of XFS in the Chinese suggests additional genetic or environmental factors to have a major influence on the phenotypic expression of XFS. The G allele of rs3825942 has been shown to be associated with XFS/XFG in all population studied to date.
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