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

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dc.contributor.author Shiga, Y.
dc.contributor.author Akiyama, M.
dc.contributor.author Nishiguchi, K.M.
dc.contributor.author Sato, K.
dc.contributor.author Shimozawa, N.
dc.contributor.author Takahashi, A.
dc.contributor.author Momozawa, Y.
dc.contributor.author Hirata, M.
dc.contributor.author Matsuda, K.
dc.contributor.author Yamaji, T.
dc.contributor.author Iwasaki, M.
dc.contributor.author Tsugane, S.
dc.contributor.author Oze, I.
dc.contributor.author Mikami, H.
dc.contributor.author Naito, M.
dc.contributor.author Wakai, K.
dc.contributor.author Yoshikawa, M.
dc.contributor.author Miyake, M.
dc.contributor.author Yamashiro, K.
dc.contributor.author Kashiwagi, K.
dc.contributor.author Iwata, T.
dc.contributor.author Mabuchi, F.
dc.contributor.author Takamoto, M.
dc.contributor.author Ozaki, M.
dc.contributor.author Kawase, K.
dc.contributor.author Aihara, M.
dc.contributor.author Aihara, M.
dc.contributor.author Yamamoto, T.
dc.contributor.author Kiuchi, Y.
dc.contributor.author Nakamura, M.
dc.contributor.author Ikeda, Y.
dc.contributor.author Sonoda, K.-H.
dc.contributor.author Ishibashi, T.
dc.contributor.author Nitta, K.
dc.contributor.author Iwase, A.
dc.contributor.author Shirato, S.
dc.contributor.author Oka, Y.
dc.contributor.author Satoh, M.
dc.contributor.author Sasaki, M.
dc.contributor.author Fuse, N.
dc.contributor.author Suzuki, Y.
dc.contributor.author Cheng, C. -Y.
dc.contributor.author Khor, C.C.
dc.contributor.author Baskaran, M.
dc.contributor.author Perera, S.
dc.contributor.author Aung, T.
dc.contributor.author Vithana, E. N.
dc.contributor.author Cooke Bailey, J.N
dc.contributor.author Kang, J.H.
dc.contributor.author Pasquale, L.R.
dc.contributor.author Haines, J.L.
dc.contributor.author Wiggs, J.L.
dc.contributor.author Burdon, K.P.
dc.contributor.author Gharahkhani, P.
dc.contributor.author Hewitt, A.W.
dc.contributor.author Mackey, D.A.
dc.contributor.author MacGregor, S.
dc.contributor.author Craig, J.E.
dc.contributor.author Rand Allingham, R.
dc.contributor.author Hauser, M.
dc.contributor.author Ashaye, A.
dc.contributor.author Budenz, D.L.
dc.contributor.author Akafo, S.
dc.contributor.author Williams, S.E.I.
dc.contributor.author Kamatani, Y.
dc.contributor.author Nakazawa, T.
dc.contributor.author Kubo, M.
dc.date.accessioned 2018-10-08T16:55:30Z
dc.date.available 2018-10-08T16:55:30Z
dc.date.issued 2018
dc.identifier.other doi:10.1093/hmg/ddy053
dc.identifier.uri http://ugspace.ug.edu.gh/handle/123456789/24530
dc.description.abstract Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide for which 15 diseaseassociated 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<5.0×10-8), bringing the total number of POAG-susceptibility loci to 22. The 7 novel variants were subsequently evaluated in a multiethnic population comprising non-Japanese East Asians (1008 cases, 591 controls), Europeans (5008 cases, 35 472 controls) and Africans (2341 cases, 2037 controls). The candidate genes located within the new loci were related to ocular development (LMX1B, HMGA2 and MAP3K1) and glaucoma-related phenotypes (FNDC3B, LMX1B and LOXL1). Pathway analysis suggested epidermal growth factor receptor signaling might be involved in POAG pathogenesis. Genetic correlation analysis revealed the relationships between POAG and systemic diseases, including type 2 diabetes and cardiovascular diseases. These results improve our understanding of the genetic factors that affect the risk of developing POAG and provide new insight into the genetic architecture of POAG in Asians. © The Author(s) 2018. Published by Oxford University Press. All rights reserved. en_US
dc.language.iso en en_US
dc.publisher Oxford University Press en_US
dc.title Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma en_US
dc.type Article en_US


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