title: Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration.
abstract: BACKGROUND
  This study aimed to demonstrate the phenotypic and genotypic factors associated with photodynamic therapy (PDT) for age-related macular degeneration (AMD).
  
  
  METHODS
  The study included 149 patients with exudative AMD treated by PDT. Eight phenotypic factors and ten genotypic factors for three single nucleotide polymorphisms (SNPs; rs800292, rs1061170, rs1410996) in the complement factor H (CFH) gene, rs 11200638-SNP in the high temperature requirement A-1 (HTRA1) gene, two SNPs (rs699947, rs2010963) in the vascular endothelial growth factor (VEGF) gene, and four SNPs (rs12948385, rs12150053, rs9913583, rs1136287) in the pigment epithelium-derived factor (PEDF) gene were evaluated.
  
  
  RESULTS
  A significant association with best-corrected visual acuity change was demonstrated in the greatest linear dimension, presence or absence of pigment epithelial detachment, and HTRA1-rs11200638 genotype statistically (P=3.67×10(-4), 1.95×10(-2), 1.24×10(-3), respectively). Best-corrected visual acuity in patients with AA genotype of HTRA1-rs11200638 significantly decreased compared with that in patients with GG genotype (P=1.33×10(-3)). Logistic regression analyses demonstrated HTRA1-rs11200638 genotype was most strongly associated with best-corrected visual acuity outcome from baseline at 12 months after photodynamic therapy (P=4.60×10(-3); odds ratio 2.363; 95% confidence interval 1.303-4.285).
  
  
  CONCLUSIONS
  The HTRA1-rs11200638 variant showed the most significant association. Therefore, this variant may be used as a prognostic factor to estimate the PDT response with significant predictive power.
authors.affiliation: Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Takashi
authors.initials: T
authors.lastname: Tsuchihashi
authors.affiliation: Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Mori
authors.affiliation: Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Kuniko
authors.initials: K
authors.lastname: Horie-Inoue
authors.affiliation: Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Iruma, Saitama, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Okazaki
authors.affiliation: Division of Endocrinology and Diabetes, Department of Medicine, Saitama Medical University, Iruma, Saitama, Japan ; Division of RI Laboratory, Biomedical Research Center, Saitama Medical University, Iruma, Saitama, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Awata
authors.affiliation: Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Inoue
authors.affiliation: Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Shin
authors.initials: S
authors.lastname: Yoneya
keywords: age-related macular degeneration; greatest linear dimension; high temperature requirement A-1; phenotypic and genotypic factors; photodynamic therapy; pigment epithelial detachment