Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Am J Ophthalmol. 2011 Mar;151(3):550-6.e1. doi: 10.1016/j.ajo.2010.08.048. Epub 2011 Jan 13.
To determine whether polymorphisms in the ARMS2 (LOC387715) gene and the lysyl oxidase-like 1 (LOXL1) gene are associated with age-related macular degeneration (AMD) in Japanese patients.
Clinically relevant laboratory investigation.
Forty-one unrelated Japanese subjects with dry AMD, 50 subjects with exudative (wet) AMD, and 60 subjects with polypoidal choroidal vasculopathy (PCV) were studied. The single nucleotide polymorphisms (SNPs), p.Ala69Ser of the ARMS2 gene and p.Arg141Leu of the LOXL1 gene, were amplified by polymerase chain reaction, directly sequenced, and genotyped.
For the ARMS2 gene, the genotype frequency of the p.Ala69Ser single nucleotide polymorphism in eyes with dry AMD was not significantly different from that in the controls (P = .04), but the frequency was significantly higher in the exudative AMD group (P = 3.1 × 10(-8)) and PCV group (P = 6.9 × 10(-3)). For the LOXL1 gene, the genotype frequency of the p.Arg141Leu single nucleotide polymorphism was not statistically higher in the dry AMD and PCV groups than in the control group (dry AMD, P = .05; PCV, P = .16), but was statistically higher in the exudative AMD group (P = 6.8 × 10(-3)). Regression analyses showed significant associations between the ARMS2 gene and LOXL1 gene in patients with exudative AMD.
The p.Ala69Ser polymorphism of the ARMS2 gene is strongly associated with exudative AMD and PCV and is associated marginally with dry AMD. The polymorphisms in the LOXL1 gene did not predispose the individual to dry AMD and PCV. These findings suggest that there is a significant association between the ARMS2 gene and LOXL1 gene in exudative AMD.
确定 ARMS2（LOC387715）基因和赖氨酰氧化酶样 1（LOXL1）基因的多态性是否与日本患者的年龄相关性黄斑变性（AMD）相关。
具有临床相关性的实验室研究。
研究了 41 名无关联的日本干性 AMD 患者、50 名渗出性（湿性）AMD 患者和 60 名息肉样脉络膜血管病变（PCV）患者。通过聚合酶链反应扩增 ARMS2 基因的 p.Ala69Ser 单核苷酸多态性和 LOXL1 基因的 p.Arg141Leu 单核苷酸多态性，直接测序并进行基因分型。
对于 ARMS2 基因，干性 AMD 眼的 p.Ala69Ser 单核苷酸多态性的基因型频率与对照组无显著差异（P=0.04），但在渗出性 AMD 组（P=3.1×10（-8））和 PCV 组（P=6.9×10（-3））中频率显著升高。对于 LOXL1 基因，干性 AMD 和 PCV 组的 p.Arg141Leu 单核苷酸多态性的基因型频率均不显著高于对照组（干性 AMD，P=0.05；PCV，P=0.16），但在渗出性 AMD 组中显著升高（P=6.8×10（-3））。回归分析显示，渗出性 AMD 患者的 ARMS2 基因和 LOXL1 基因之间存在显著关联。
ARMS2 基因的 p.Ala69Ser 多态性与渗出性 AMD 和 PCV 密切相关，与干性 AMD 呈边缘相关。LOXL1 基因的多态性与干性 AMD 和 PCV 无关。这些发现表明，渗出性 AMD 患者的 ARMS2 基因和 LOXL1 基因之间存在显著关联。
