title: Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population.
abstract: The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75x10(-6)). The results were more significant in subtype analyses with wet AMD (p=5.96x10(-7)). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.
authors.affiliation: Department of Ophthalmology, Saitama Medical University, Faculty of Medicine, 38 Morohongo, Moroyama, Iruma, Saitama, 350-0495, Japan. keisuke@saitama-med.ac.jp.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Mori
authors.affiliation: Department of Ophthalmology, Saitama Medical University, Faculty of Medicine, 38 Morohongo, Moroyama, Iruma, Saitama, 350-0495, Japan.|Division of Gene Regulation and Signal Transduction, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.
authors.forename: Kuniko
authors.initials: K
authors.lastname: Horie-Inoue
authors.affiliation: Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Kohda
authors.affiliation: Department of Ophthalmology, Saitama Medical University, Faculty of Medicine, 38 Morohongo, Moroyama, Iruma, Saitama, 350-0495, Japan.
authors.forename: Izumi
authors.initials: I
authors.lastname: Kawasaki
authors.affiliation: Department of Ophthalmology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
authors.forename: Peter L
authors.initials: PL
authors.lastname: Gehlbach
authors.affiliation: Division of Endocrinology and Diabetes, Department of Medicine, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.|Division of RI Laboratory, Biomedical Research Center, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Awata
authors.affiliation: Department of Ophthalmology, Saitama Medical University, Faculty of Medicine, 38 Morohongo, Moroyama, Iruma, Saitama, 350-0495, Japan.
authors.forename: Shin
authors.initials: S
authors.lastname: Yoneya
authors.affiliation: Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Okazaki
authors.affiliation: Division of Gene Regulation and Signal Transduction, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Inoue
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D007564:Japan; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases