Article
Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.
Human molecular genetics - 15 Nov 2016
Momozawa Yukihide, Akiyama Masato, Kamatani Yoichiro, Arakawa Satoshi, Yasuda Miho, Yoshida Shigeo, Oshima Yuji, Mori Ryusaburo, Tanaka Koji, Mori Keisuke, Inoue Satoshi, Terasaki Hiroko, Yasuma Tetsuhiro, Honda Shigeru, Miki Akiko, Inoue Maiko, Fujisawa Kimihiko, Takahashi Kanji, Yasukawa Tsutomu, Yanagi Yasuo, Kadonosono Kazuaki, Sonoda Koh-Hei, Ishibashi Tatsuro, Takahashi Atsushi, Kubo Michiaki
Abstract excerpt
Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. Previous sequencing studies of AMD susceptibility genes have revealed the association of rare coding variants in CFH, CFI, C3 and C9 in European population; however, the impact of rare or low-frequency coding variants on AMD susceptibility in other populations is largely unknown. To identify the role of low-frequency coding...
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