de Juan-Marcos Lourdes, Escudero-Domínguez Francisco A, Hernández-Galilea Emiliano, Cabrillo-Estévez Lucía, Cruz-González Fernando, Cieza-Borrella Clara, Sánchez-Barba Mercedes, González-Sarmiento Rogelio
a Department of Ophthalmology , University Hospital of Salamanca .
b Institute for Biomedical Research of Salamanca (IBSAL) .
Ophthalmic Genet. 2016;37(1):25-30. doi: 10.3109/13816810.2014.921316. Epub 2014 Jun 3.
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).
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.
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 = 3.36 × 10(-5), OR = 5.71, 95% CI: 2.30-14.18; p = 3.38 × 10(-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 = 2.50 × 10(-4), OR = 2.18, 95% CI: 1.43-3.33; p = 1.21 × 10(-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.
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.
评估西班牙人群中赖氨酰氧化酶样1（LOXL1）单核苷酸多态性（SNP）与假性剥脱综合征（XFS）和假性剥脱性青光眼（XFG）的相关性。
本病例对照研究纳入了100名西班牙患者（60例XFS患者和40例XFG患者）以及90名对照受试者。采用直接测序法分析LOXL1的三个单核苷酸多态性（rs1048661、rs3825942和rs2165241）的基因型。
与对照受试者相比，在假性剥脱患者中检测到SNP rs3825942的G等位基因和GG基因型的频率在统计学上显著更高（p = 3.36×10⁻⁵，OR = 5.71，95% CI：2.30 - 14.18；p = 3.38×10⁻⁵，OR = 6.91，95% CI：2.51 - 19.03）。SNP rs2165241的T等位基因和TT基因型在假性剥脱患者中的出现频率显著高于对照组（p = 2.50×10⁻⁴，OR = 2.18，95% CI：1.43 - 3.33；p = 1.21×10⁻²，OR = 2.13，95% CI：1.75 - 3.85）。未观察到XFS/XFG与rs1048661之间存在显著关联。由所有三个风险等位基因组成的GGT单倍型被确定与假性剥脱显著相关。XFS和XFG之间这三个SNP的基因型和等位基因分布相似。
这是第一项在西班牙人群中将LOXL1的两个SNP（rs3825942和rs2165241）与XFS/XFG相关联的研究，证实了在欧洲患者中的研究结果。然而，rs1048661 SNP与XFS未显示出关联。
