association between the serping1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in japaneseserping1基因之间的联系和年龄相关性黄斑变性和polypoidal脉络膜血管病变在日本.pdf

Association between the SERPING1 Gene and Age- Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese 1,2 1 2 1,2 1,2 Isao Nakata , Kenji Yamashiro *, Ryo Yamada , Norimoto Gotoh , Hideo Nakanishi , Hisako 1,2 1 1 3 3 4 Hayashi , Akitaka Tsujikawa , Atsushi Otani , Masaaki Saito , Tomohiro Iida , Akio Oishi , Keitaro 5 5 2 1 Matsuo , Kazuo Tajima , Fumihiko Matsuda , Nagahisa Yoshimura 1 Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan, 2 Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto, Japan, 3 Department of Ophthalmology, Fukushima Medical University, Fukushima, Japan, 4 Department of Ophthalmology, Kobe City Medical Center General Hospital, Kobe, Japan, 5 Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan Abstract Purpose: Recently, a complement component 1 inhibitor (SERPING1) gene polymorphism was identified as a novel risk factor for age-related macular degeneration (AMD) in Caucasians. We aimed to investigate whether variations in SERPING1 are associated with typical AMD or with polypoidal choroidal vasculopathy (PCV) in a Japanese population. Methods: We performed a case-control study in a group of Japanese patients with typical AMD (n = 401) or PCV (n = 510) and in 2 independent control groups—336 cataract patients without age-related maculopathy and 1,194 healthy Japanese individuals. Differences