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Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population

PURPOSE: To evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with exfoliation syndrome in a Chinese population. METHODS: Fifty unrelated patients with exfoliation syndrome and 125 control subjects were included. Genotypes of the three single nucleotide polymor...

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Autores principales: Chen, Ling, Jia, Liyun, Wang, Ningli, Tang, Guangxian, Zhang, Chun, Fan, Sujie, Liu, Wenru, Meng, Hailin, Zeng, Wotan, Liu, Ningpu, Wang, Huaizhou, Jia, Hongyan
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779059/
https://www.ncbi.nlm.nih.gov/pubmed/19936304
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author Chen, Ling
Jia, Liyun
Wang, Ningli
Tang, Guangxian
Zhang, Chun
Fan, Sujie
Liu, Wenru
Meng, Hailin
Zeng, Wotan
Liu, Ningpu
Wang, Huaizhou
Jia, Hongyan
author_facet Chen, Ling
Jia, Liyun
Wang, Ningli
Tang, Guangxian
Zhang, Chun
Fan, Sujie
Liu, Wenru
Meng, Hailin
Zeng, Wotan
Liu, Ningpu
Wang, Huaizhou
Jia, Hongyan
author_sort Chen, Ling
collection PubMed
description PURPOSE: To evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with exfoliation syndrome in a Chinese population. METHODS: Fifty unrelated patients with exfoliation syndrome and 125 control subjects were included. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing, and a case-control association study was performed. RESULTS: The three SNPs were significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) individually. After controlling for rs3825942 and rs2165241, the association between rs1048661 and XFS/XFG remained significant (p=3.6×10(-7)). At this SNP, the T allele and TT genotype conferred a 7.59-(95% confidence interval [CI]: 3.87–14.89, p=6.95×10(-11)) and 8.69-(95% CI: 4.15–18.20, p<1.00×10(-7)) fold increased risk to the disease. The alleles of T at rs1048661 and C at rs2165241 were found to be risk alleles in Chinese subjects, which were opposite to Caucasian individuals. The haplotypes T-G, defined by SNPs rs1048661 and rs3825942, and T-C by SNPs rs1048661 and rs2165241, were also significantly associated with the disorder. However when the genotypic or allelic frequencies of the three SNPs were compared between XFS and XFG, no significant difference was detected. CONCLUSIONS: LOXL1 is a susceptibility gene of XFS/XFG in the Chinese population, and the association is mainly attributed to SNP rs1048661. The risk alleles of rs1048661 and rs2165241 in Chinese subjects were found to be opposite to that of Caucasians. The genotypic and allelic distributions of these SNPs are similar between XFS and XFG.
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spelling pubmed-27790592009-11-20 Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population Chen, Ling Jia, Liyun Wang, Ningli Tang, Guangxian Zhang, Chun Fan, Sujie Liu, Wenru Meng, Hailin Zeng, Wotan Liu, Ningpu Wang, Huaizhou Jia, Hongyan Mol Vis Research Article PURPOSE: To evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with exfoliation syndrome in a Chinese population. METHODS: Fifty unrelated patients with exfoliation syndrome and 125 control subjects were included. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing, and a case-control association study was performed. RESULTS: The three SNPs were significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) individually. After controlling for rs3825942 and rs2165241, the association between rs1048661 and XFS/XFG remained significant (p=3.6×10(-7)). At this SNP, the T allele and TT genotype conferred a 7.59-(95% confidence interval [CI]: 3.87–14.89, p=6.95×10(-11)) and 8.69-(95% CI: 4.15–18.20, p<1.00×10(-7)) fold increased risk to the disease. The alleles of T at rs1048661 and C at rs2165241 were found to be risk alleles in Chinese subjects, which were opposite to Caucasian individuals. The haplotypes T-G, defined by SNPs rs1048661 and rs3825942, and T-C by SNPs rs1048661 and rs2165241, were also significantly associated with the disorder. However when the genotypic or allelic frequencies of the three SNPs were compared between XFS and XFG, no significant difference was detected. CONCLUSIONS: LOXL1 is a susceptibility gene of XFS/XFG in the Chinese population, and the association is mainly attributed to SNP rs1048661. The risk alleles of rs1048661 and rs2165241 in Chinese subjects were found to be opposite to that of Caucasians. The genotypic and allelic distributions of these SNPs are similar between XFS and XFG. Molecular Vision 2009-11-14 /pmc/articles/PMC2779059/ /pubmed/19936304 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Chen, Ling
Jia, Liyun
Wang, Ningli
Tang, Guangxian
Zhang, Chun
Fan, Sujie
Liu, Wenru
Meng, Hailin
Zeng, Wotan
Liu, Ningpu
Wang, Huaizhou
Jia, Hongyan
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
title Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
title_full Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
title_fullStr Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
title_full_unstemmed Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
title_short Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
title_sort evaluation of loxl1 polymorphisms in exfoliation syndrome in a chinese population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779059/
https://www.ncbi.nlm.nih.gov/pubmed/19936304
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