Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

• Published in: Human molecular genetics 2018-04, Vol.27 (8), p.1486-1496
• Main Authors: Shiga, Yukihiro, Akiyama, Masato, Nishiguchi, Koji M, Sato, Kota, Shimozawa, Nobuhiro, Takahashi, Atsushi, Momozawa, Yukihide, Hirata, Makoto, Matsuda, Koichi, Yamaji, Taiki, Iwasaki, Motoki, Tsugane, Shoichiro, Oze, Isao, Mikami, Haruo, Naito, Mariko, Wakai, Kenji, Yoshikawa, Munemitsu, Miyake, Masahiro, Yamashiro, Kenji, Kashiwagi, Kenji, Iwata, Takeshi, Mabuchi, Fumihiko, Takamoto, Mitsuko, Ozaki, Mineo, Kawase, Kazuhide, Aihara, Makoto, Araie, Makoto, Yamamoto, Tetsuya, Kiuchi, Yoshiaki, Nakamura, Makoto, Ikeda, Yasuhiro, Sonoda, Koh-Hei, Ishibashi, Tatsuro, Nitta, Koji, Iwase, Aiko, Shirato, Shiroaki, Oka, Yoshitaka, Satoh, Mamoru, Sasaki, Makoto, Fuse, Nobuo, Suzuki, Yoichi, Cheng, Ching-Yu, Khor, Chiea Chuen, Baskaran, Mani, Perera, Shamira, Aung, Tin, Vithana, Eranga N, Cooke Bailey, Jessica N, Kang, Jae H, Pasquale, Louis R, Haines, Jonathan L, Wiggs, Janey L, Burdon, Kathryn P, Gharahkhani, Puya, Hewitt, Alex W, Mackey, David A, MacGregor, Stuart, Craig, Jamie E, Allingham, R Rand, Hauser, Micheal, Ashaye, Adeyinka, Budenz, Donald L, Akafo, Stephan, Williams, Susan E I, Kamatani, Yoichiro, Nakazawa, Toru, Kubo, Michiaki
• Format: Article
• Language: English
• Subjects: African Continental Ancestry Group; Asian Continental Ancestry Group; Association Studies; Cardiovascular Diseases - complications; Cardiovascular Diseases - ethnology; Cardiovascular Diseases - genetics; Cardiovascular Diseases - pathology; Case-Control Studies; Diabetes Mellitus, Type 2 - complications; Diabetes Mellitus, Type 2 - ethnology; Diabetes Mellitus, Type 2 - genetics; Diabetes Mellitus, Type 2 - pathology; ErbB Receptors - genetics; ErbB Receptors - metabolism; European Continental Ancestry Group; Eye Proteins - genetics; Eye Proteins - metabolism; Female; Gene Expression; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Glaucoma, Open-Angle - complications; Glaucoma, Open-Angle - ethnology; Glaucoma, Open-Angle - genetics; Glaucoma, Open-Angle - pathology; Humans; Male; Mutation; Polymorphism, Single Nucleotide; Signal Transduction
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/ddy053

Abstract Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 loci have been associated with POAG in Asians. We carried out a genome-wide association study and a replication study that included a total of 7378 POAG cases and 36 385 controls from a Japanese population. After combining the genome-wide association study and the two replication sets, we identified 11 POAG-associated loci, including 4 known (CDKN2B-AS1, ABCA1, SIX6 and AFAP1) and 7 novel loci (FNDC3B, ANKRD55-MAP3K1, LMX1B, LHPP, HMGA2, MEIS2 and LOXL1) at a genome-wide significance level (P