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Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population |
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| Authors: | Asako Goto Masakazu Akahori Haru Okamoto Masayoshi Minami Naoki Terauchi Yuji Haruhata Minoru Obazawa Toru Noda Miki Honda Atsushi Mizota Minoru Tanaka Takaaki Hayashi Masaki Tanito Naoko Ogata Takeshi Iwata |
| Institution: | 1. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan 2. Division of Ophthalmology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan 3. Department of Ophthalmology, Juntendo University Urayasu Hospital, 2-1-1, Tomioka, Urayasu, 279-0021, Japan 4. Department of Ophthalmology, Teikyo University, 2-11-1, Kaga, Itabashi-ku, Tokyo, 173-8605, Japan 5. Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8, Nishi-shimbashi, Minato-ku, Tokyo, 105-8461, Japan 6. Department of Ophthalmology, Shimane University Faculty of Medicine, Enya 89-1, Izumo, Shimane, 693-8501, Japan 7. Department of Ophthalmology, Kansai Medical University, 10-15, Fumizono-cho, Moriguchi, 570-0074, Japan |
| Abstract: | Age-related macular degeneration (AMD) is a common cause of blindness in the elderly. Caucasian patients are predominantly affected by the dry form of AMD, whereas Japanese patients have predominantly the wet form of AMD and/or polypoidal choroidal vasculopathy (PCV). Although genetic association in the 10q26 (ARMS2/HTRA1) region has been established in many ethnic groups for dry-type AMD, typical wet-type AMD, and PCV, the contribution of the 1q32 (CFH) region seem to differ among these groups. Here we show a single nucleotide polymorphism (SNP) in the ARMS2/HTRA1 locus is associated in the whole genome for Japanese typical wet-type AMD (rs10490924: , OR?=?4.16) and PCV (rs10490924: , OR?=?2.72) followed by CFH (rs800292: , OR?=?2.08; , OR?=?2.00), which differs from previous studies in Caucasian populations. Moreover, a SNP (rs2241394) in complement component C3 gene showed significant association with PCV (, OR?=?3.47). We conclude that dry-type AMD, typical wet-type AMD, and PCV have both common and distinct genetic risks that become apparent when comparing Japanese versus Caucasian populations.Electronic supplementary materialThe online version of this article (doi:10.1007/s12177-009-9047-1) contains supplementary material, which is available to authorized users. |
| Keywords: | Age-related macular degeneration Polypoidal choroidal vasculopathy ARMS2 HTRA1 CFH C3 |
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