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Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population
PURPOSE: In Uygur populations, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occurred at a high frequency. In this study, we evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with XFS in the Uygur population. METHODS: Sixty-four unrelated Uygur pati...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130722/ https://www.ncbi.nlm.nih.gov/pubmed/21738402 |
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author | Mayinu, Chen, Xueyi |
author_facet | Mayinu, Chen, Xueyi |
author_sort | Mayinu, |
collection | PubMed |
description | PURPOSE: In Uygur populations, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occurred at a high frequency. In this study, we evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with XFS in the Uygur population. METHODS: Sixty-four unrelated Uygur patients with XFS and 127 Uygur control subjects were included in this study. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs2165241, and rs3825942) were analyzed by direct sequencing, and a case-control association study was performed. RESULTS: The three SNPs were significantly associated with XFS and XFG individually. The G allele of rs1048661 (OR [95%CI]: 1.92 [1.14–3.22]), G of rs3825942 (OR [95%CI]: 4.86 [2.02–11.68]), and T of rs2165241 (OR [95%CI]: 3.98 [2.54–6.25]) were risk alleles for the disorder. The genotypes GG for rs1048661 (OR [95%CI]: 2.13 [1.14–3.97]), GG for rs3825942 (OR [95%CI]: 5.68 [2.28–14.17]), and TT for rs2165241 (OR [95%CI]: 6.13 [2.68–14.01]) were risk genotypes for the disease. The haplotypes G-G for the SNPs rs1048661and rs3825942, G-T for the SNPs rs1048661 and rs2165241, and SNPs rs3825942 and rs2165241 were found to be significantly associated with XFS/G. The haplotypes G-G-T for the three SNPs were determined to be significantly associated with XFS/G. There were significant differences of the allelic and genotypic proportion in different gender/age patients and controls for all three SNPs. T allele of rs2165241 and G of rs3825942 were risk alleles for the disorder in both the male and female groups. G allele of rs1048661 was a risk allele for the disorder in the below 65-year-old group. T of rs2165241 was a risk allele for the disorder in both age groups. G of rs3825942 was a risk allele for the disorder in the over 65-year-old group. The genotypes also showed significant differences in the below 65-year-old group of rs1048661, both groups of rs2165241, and over 65-year-old group of rs3825942. CONCLUSIONS: LOXL1 is a susceptibility gene of XFS/XFG in Uygur populations. The risk alleles of rs1048661, rs3825942 and rs2165241 in Uygur subjects were found to be similar to those of populations in Iceland and the United States and different from Han populations in China. The genotypic and allelic distributions of these SNPs are similar between XFS and XFG. |
format | Online Article Text |
id | pubmed-3130722 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-31307222011-07-07 Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population Mayinu, Chen, Xueyi Mol Vis Research Article PURPOSE: In Uygur populations, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occurred at a high frequency. In this study, we evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with XFS in the Uygur population. METHODS: Sixty-four unrelated Uygur patients with XFS and 127 Uygur control subjects were included in this study. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs2165241, and rs3825942) were analyzed by direct sequencing, and a case-control association study was performed. RESULTS: The three SNPs were significantly associated with XFS and XFG individually. The G allele of rs1048661 (OR [95%CI]: 1.92 [1.14–3.22]), G of rs3825942 (OR [95%CI]: 4.86 [2.02–11.68]), and T of rs2165241 (OR [95%CI]: 3.98 [2.54–6.25]) were risk alleles for the disorder. The genotypes GG for rs1048661 (OR [95%CI]: 2.13 [1.14–3.97]), GG for rs3825942 (OR [95%CI]: 5.68 [2.28–14.17]), and TT for rs2165241 (OR [95%CI]: 6.13 [2.68–14.01]) were risk genotypes for the disease. The haplotypes G-G for the SNPs rs1048661and rs3825942, G-T for the SNPs rs1048661 and rs2165241, and SNPs rs3825942 and rs2165241 were found to be significantly associated with XFS/G. The haplotypes G-G-T for the three SNPs were determined to be significantly associated with XFS/G. There were significant differences of the allelic and genotypic proportion in different gender/age patients and controls for all three SNPs. T allele of rs2165241 and G of rs3825942 were risk alleles for the disorder in both the male and female groups. G allele of rs1048661 was a risk allele for the disorder in the below 65-year-old group. T of rs2165241 was a risk allele for the disorder in both age groups. G of rs3825942 was a risk allele for the disorder in the over 65-year-old group. The genotypes also showed significant differences in the below 65-year-old group of rs1048661, both groups of rs2165241, and over 65-year-old group of rs3825942. CONCLUSIONS: LOXL1 is a susceptibility gene of XFS/XFG in Uygur populations. The risk alleles of rs1048661, rs3825942 and rs2165241 in Uygur subjects were found to be similar to those of populations in Iceland and the United States and different from Han populations in China. The genotypic and allelic distributions of these SNPs are similar between XFS and XFG. Molecular Vision 2011-06-28 /pmc/articles/PMC3130722/ /pubmed/21738402 Text en Copyright © 2011 Molecular Vision. 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 Mayinu, Chen, Xueyi Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population |
title | Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population |
title_full | Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population |
title_fullStr | Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population |
title_full_unstemmed | Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population |
title_short | Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population |
title_sort | evaluation of loxl1 polymorphisms in exfoliation syndrome in the uygur population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130722/ https://www.ncbi.nlm.nih.gov/pubmed/21738402 |
work_keys_str_mv | AT mayinu evaluationofloxl1polymorphismsinexfoliationsyndromeintheuygurpopulation AT chenxueyi evaluationofloxl1polymorphismsinexfoliationsyndromeintheuygurpopulation |