Bessho Hiroaki, Honda Shigeru, Kondo Naoshi, Negi Akira
Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
Mol Vis. 2011 Apr 20;17:977-82.
To determine the association of age-related maculopathy susceptibility 2 (ARMS2) gene polymorphisms with the phenotype of typical neovascular age-related macular degeneration (tAMD) and polypoidal choroidal vasculopathy (PCV) and the effects of photodynamic therapy (PDT).
The single nucleotide polymorphisms at rs10490924 (A69S) in ARMS2 of 68 tAMD and 119 PCV patients who underwent PDT were genotyped using the TaqMan assay. The baseline best corrected visual acuity (BCVA) and lesion size were compared among the three genotypes at rs10490924. A multivariate regression analysis was performed to evaluate the influence of the baseline BCVA, greatest linear dimension (GLD), and lesion phenotype (tAMD or PCV) on the association of rs10490924 with the BCVA 12 months after the first PDT.
The mean lesion size was significantly different among the GG, GT, and TT genotypes at rs10490924 in the PCV group, although no significant differences were detected in the tAMD group. PCV patients with a G allele had significantly better vision at 3 months after the initial PDT. tAMD patients with a TT genotype had significantly poorer vision at 12 months after the first PDT. In the multivariate regression analysis, the additive model of the G allele at rs10490924 was associated with a significantly better BCVA 12 months after the first PDT in tAMD and PCV patients.
ARMS2 variants are likely associated with the phenotype and the effects of PDT in tAMD and PCV.
确定年龄相关性黄斑病变易感性2（ARMS2）基因多态性与典型新生血管性年龄相关性黄斑变性（tAMD）及息肉状脉络膜血管病变（PCV）的表型之间的关联，以及光动力疗法（PDT）的效果。
采用TaqMan分析法对68例接受PDT的tAMD患者和119例接受PDT的PCV患者的ARMS2基因rs10490924（A69S）位点的单核苷酸多态性进行基因分型。比较rs10490924三个基因型的基线最佳矫正视力（BCVA）和病变大小。进行多因素回归分析，以评估基线BCVA、最大线性尺寸（GLD）和病变表型（tAMD或PCV）对rs10490924与首次PDT后12个月BCVA之间关联的影响。
PCV组中，rs10490924位点的GG、GT和TT基因型之间的平均病变大小有显著差异，而tAMD组未检测到显著差异。携带G等位基因的PCV患者在初始PDT后3个月视力明显更好。携带TT基因型的tAMD患者在首次PDT后12个月视力明显更差。在多因素回归分析中，表示rs10490924位点G等位基因的加性模型与tAMD和PCV患者首次PDT后12个月时明显更好的BCVA相关。
ARMS2基因变异可能与tAMD和PCV的表型及PDT效果相关。
