Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population
Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population
复制标题
DOI：
10.3109/13816810.2014.921316
复制
发表时间：
2016-01-02
影响因子：
1.2
通讯作者：
Gonzalez-Sarmiento, Rogelio
中科院分区：
文献类型：
--
作者：
de Juan-Marcos, Lourdes;Escudero-Dominguez, Francisco A.;Gonzalez-Sarmiento, Rogelio
目的：探讨西班牙人群赖氨酰氧化酶样1(LOXL1)单核苷酸多态性(SNPs)与假性剥脱综合征(XFS)和假性剥脱性青光眼(XFG)的关系。材料和方法：本病例对照研究包括100例西班牙患者(60例XFS和40例XFG)和90例对照组。结果：假性剥脱组rs3825942的G等位基因和GG等位基因频率显著高于对照组(P=3.36x10(-5)，OR=5.71，95%CI：2.30~14.18；P=3.38x10(-5)，OR=6.91，95%CI：2.51~19.03)。假性剥脱组rs2165241基因T等位基因和TT型频率显著高于对照组(P=2.50x10(-4)，OR=2.18，95%CI：1.43~3.33；p=1.21x10(-2)，OR=2.13，95%CI：1.75~3.85)。未观察到XFS/XFG与rs1048661有显著关联。由所有三个危险等位基因组成的GGT单倍型被确定为与假性剥落显著相关。结论：首次在西班牙人群中发现LOXL1的两个SNPs(rs3825942和rs2165241)和XFS/XFG之间存在关联，证实了欧洲患者的研究结果。然而，rs1048661 SNP并未显示与XFS相关。
Purpose: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG).Materials and methods: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing.Results: The G allele and the GG genotype of SNP rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p=3.36x10(-5), OR=5.71, 95% CI: 2.30-14.18; p=3.38x10(-5), OR=6.91, 95% CI: 2.51-19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p=2.50x10(-4), OR=2.18, 95% CI: 1.43-3.33; p=1.21x10(-2), OR=2.13, 95% CI: 1.75-3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were similar between XFS and XFG.Conclusions: This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe. However rs1048661 SNP did not show an association with XFS.