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Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma
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...
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| Published in: | Human molecular genetics 2018-04, Vol.27 (8), p.1486-1496 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| cites | cdi_FETCH-LOGICAL-c474t-76e34c2e20e1ba7a4ae46b932bd85b58f9b3eea793cb81b63c89e9fbb4d8b5a23 |
| container_end_page | 1496 |
| container_issue | 8 |
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| container_title | Human molecular genetics |
| container_volume | 27 |
| creator | 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 |
| description | 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 |
| doi_str_mv | 10.1093/hmg/ddy053 |
| format | article |
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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 < 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.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddy053</identifier><identifier>PMID: 29452408</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>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</subject><ispartof>Human molecular genetics, 2018-04, Vol.27 (8), p.1486-1496</ispartof><rights>The Author(s) 2018. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-76e34c2e20e1ba7a4ae46b932bd85b58f9b3eea793cb81b63c89e9fbb4d8b5a23</citedby><cites>FETCH-LOGICAL-c474t-76e34c2e20e1ba7a4ae46b932bd85b58f9b3eea793cb81b63c89e9fbb4d8b5a23</cites><orcidid>0000-0001-8217-1249</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29452408$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shiga, Yukihiro</creatorcontrib><creatorcontrib>Akiyama, Masato</creatorcontrib><creatorcontrib>Nishiguchi, Koji M</creatorcontrib><creatorcontrib>Sato, Kota</creatorcontrib><creatorcontrib>Shimozawa, Nobuhiro</creatorcontrib><creatorcontrib>Takahashi, Atsushi</creatorcontrib><creatorcontrib>Momozawa, Yukihide</creatorcontrib><creatorcontrib>Hirata, Makoto</creatorcontrib><creatorcontrib>Matsuda, Koichi</creatorcontrib><creatorcontrib>Yamaji, Taiki</creatorcontrib><creatorcontrib>Iwasaki, Motoki</creatorcontrib><creatorcontrib>Tsugane, Shoichiro</creatorcontrib><creatorcontrib>Oze, Isao</creatorcontrib><creatorcontrib>Mikami, Haruo</creatorcontrib><creatorcontrib>Naito, Mariko</creatorcontrib><creatorcontrib>Wakai, Kenji</creatorcontrib><creatorcontrib>Yoshikawa, Munemitsu</creatorcontrib><creatorcontrib>Miyake, Masahiro</creatorcontrib><creatorcontrib>Yamashiro, Kenji</creatorcontrib><creatorcontrib>Kashiwagi, Kenji</creatorcontrib><creatorcontrib>Iwata, Takeshi</creatorcontrib><creatorcontrib>Mabuchi, Fumihiko</creatorcontrib><creatorcontrib>Takamoto, Mitsuko</creatorcontrib><creatorcontrib>Ozaki, Mineo</creatorcontrib><creatorcontrib>Kawase, Kazuhide</creatorcontrib><creatorcontrib>Aihara, Makoto</creatorcontrib><creatorcontrib>Araie, Makoto</creatorcontrib><creatorcontrib>Yamamoto, Tetsuya</creatorcontrib><creatorcontrib>Kiuchi, Yoshiaki</creatorcontrib><creatorcontrib>Nakamura, Makoto</creatorcontrib><creatorcontrib>Ikeda, Yasuhiro</creatorcontrib><creatorcontrib>Sonoda, Koh-Hei</creatorcontrib><creatorcontrib>Ishibashi, Tatsuro</creatorcontrib><creatorcontrib>Nitta, Koji</creatorcontrib><creatorcontrib>Iwase, Aiko</creatorcontrib><creatorcontrib>Shirato, Shiroaki</creatorcontrib><creatorcontrib>Oka, Yoshitaka</creatorcontrib><creatorcontrib>Satoh, Mamoru</creatorcontrib><creatorcontrib>Sasaki, Makoto</creatorcontrib><creatorcontrib>Fuse, Nobuo</creatorcontrib><creatorcontrib>Suzuki, Yoichi</creatorcontrib><creatorcontrib>Cheng, Ching-Yu</creatorcontrib><creatorcontrib>Khor, Chiea Chuen</creatorcontrib><creatorcontrib>Baskaran, Mani</creatorcontrib><creatorcontrib>Perera, Shamira</creatorcontrib><creatorcontrib>Aung, Tin</creatorcontrib><creatorcontrib>Vithana, Eranga N</creatorcontrib><creatorcontrib>Cooke Bailey, Jessica N</creatorcontrib><creatorcontrib>Kang, Jae H</creatorcontrib><creatorcontrib>Pasquale, Louis R</creatorcontrib><creatorcontrib>Haines, Jonathan L</creatorcontrib><creatorcontrib>Wiggs, Janey L</creatorcontrib><creatorcontrib>Burdon, Kathryn P</creatorcontrib><creatorcontrib>Gharahkhani, Puya</creatorcontrib><creatorcontrib>Hewitt, Alex W</creatorcontrib><creatorcontrib>Mackey, David A</creatorcontrib><creatorcontrib>MacGregor, Stuart</creatorcontrib><creatorcontrib>Craig, Jamie E</creatorcontrib><creatorcontrib>Allingham, R Rand</creatorcontrib><creatorcontrib>Hauser, Micheal</creatorcontrib><creatorcontrib>Ashaye, Adeyinka</creatorcontrib><creatorcontrib>Budenz, Donald L</creatorcontrib><creatorcontrib>Akafo, Stephan</creatorcontrib><creatorcontrib>Williams, Susan E I</creatorcontrib><creatorcontrib>Kamatani, Yoichiro</creatorcontrib><creatorcontrib>Nakazawa, Toru</creatorcontrib><creatorcontrib>Kubo, Michiaki</creatorcontrib><creatorcontrib>Japan Glaucoma Society Omics Group (JGS-OG)</creatorcontrib><creatorcontrib>NEIGHBORHOOD Consortium</creatorcontrib><creatorcontrib>NEIGHBORHOOD Consortium</creatorcontrib><creatorcontrib>Japan Glaucoma Society Omics Group (JGS-OG)</creatorcontrib><title>Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>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 < 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.</description><subject>African Continental Ancestry Group</subject><subject>Asian Continental Ancestry Group</subject><subject>Association Studies</subject><subject>Cardiovascular Diseases - complications</subject><subject>Cardiovascular Diseases - ethnology</subject><subject>Cardiovascular Diseases - genetics</subject><subject>Cardiovascular Diseases - pathology</subject><subject>Case-Control Studies</subject><subject>Diabetes Mellitus, Type 2 - complications</subject><subject>Diabetes Mellitus, Type 2 - ethnology</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Diabetes Mellitus, Type 2 - pathology</subject><subject>ErbB Receptors - genetics</subject><subject>ErbB Receptors - metabolism</subject><subject>European Continental Ancestry Group</subject><subject>Eye Proteins - genetics</subject><subject>Eye Proteins - metabolism</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Genetic Loci</subject><subject>Genetic Predisposition to Disease</subject><subject>Genome-Wide Association Study</subject><subject>Glaucoma, Open-Angle - complications</subject><subject>Glaucoma, Open-Angle - ethnology</subject><subject>Glaucoma, Open-Angle - genetics</subject><subject>Glaucoma, Open-Angle - pathology</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Signal 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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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-76e34c2e20e1ba7a4ae46b932bd85b58f9b3eea793cb81b63c89e9fbb4d8b5a23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>African Continental Ancestry Group</topic><topic>Asian Continental Ancestry Group</topic><topic>Association Studies</topic><topic>Cardiovascular Diseases - complications</topic><topic>Cardiovascular Diseases - ethnology</topic><topic>Cardiovascular Diseases - genetics</topic><topic>Cardiovascular Diseases - pathology</topic><topic>Case-Control Studies</topic><topic>Diabetes Mellitus, Type 2 - complications</topic><topic>Diabetes Mellitus, Type 2 - ethnology</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>Diabetes Mellitus, Type 2 - pathology</topic><topic>ErbB Receptors - genetics</topic><topic>ErbB Receptors - metabolism</topic><topic>European Continental Ancestry Group</topic><topic>Eye Proteins - genetics</topic><topic>Eye Proteins - metabolism</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Genetic Loci</topic><topic>Genetic Predisposition to Disease</topic><topic>Genome-Wide Association Study</topic><topic>Glaucoma, Open-Angle - complications</topic><topic>Glaucoma, Open-Angle - ethnology</topic><topic>Glaucoma, Open-Angle - genetics</topic><topic>Glaucoma, Open-Angle - pathology</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Signal Transduction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shiga, Yukihiro</creatorcontrib><creatorcontrib>Akiyama, Masato</creatorcontrib><creatorcontrib>Nishiguchi, Koji M</creatorcontrib><creatorcontrib>Sato, Kota</creatorcontrib><creatorcontrib>Shimozawa, Nobuhiro</creatorcontrib><creatorcontrib>Takahashi, Atsushi</creatorcontrib><creatorcontrib>Momozawa, Yukihide</creatorcontrib><creatorcontrib>Hirata, Makoto</creatorcontrib><creatorcontrib>Matsuda, Koichi</creatorcontrib><creatorcontrib>Yamaji, Taiki</creatorcontrib><creatorcontrib>Iwasaki, Motoki</creatorcontrib><creatorcontrib>Tsugane, Shoichiro</creatorcontrib><creatorcontrib>Oze, Isao</creatorcontrib><creatorcontrib>Mikami, Haruo</creatorcontrib><creatorcontrib>Naito, Mariko</creatorcontrib><creatorcontrib>Wakai, Kenji</creatorcontrib><creatorcontrib>Yoshikawa, Munemitsu</creatorcontrib><creatorcontrib>Miyake, Masahiro</creatorcontrib><creatorcontrib>Yamashiro, Kenji</creatorcontrib><creatorcontrib>Kashiwagi, Kenji</creatorcontrib><creatorcontrib>Iwata, Takeshi</creatorcontrib><creatorcontrib>Mabuchi, Fumihiko</creatorcontrib><creatorcontrib>Takamoto, Mitsuko</creatorcontrib><creatorcontrib>Ozaki, Mineo</creatorcontrib><creatorcontrib>Kawase, Kazuhide</creatorcontrib><creatorcontrib>Aihara, Makoto</creatorcontrib><creatorcontrib>Araie, Makoto</creatorcontrib><creatorcontrib>Yamamoto, Tetsuya</creatorcontrib><creatorcontrib>Kiuchi, Yoshiaki</creatorcontrib><creatorcontrib>Nakamura, Makoto</creatorcontrib><creatorcontrib>Ikeda, Yasuhiro</creatorcontrib><creatorcontrib>Sonoda, Koh-Hei</creatorcontrib><creatorcontrib>Ishibashi, Tatsuro</creatorcontrib><creatorcontrib>Nitta, Koji</creatorcontrib><creatorcontrib>Iwase, Aiko</creatorcontrib><creatorcontrib>Shirato, Shiroaki</creatorcontrib><creatorcontrib>Oka, Yoshitaka</creatorcontrib><creatorcontrib>Satoh, Mamoru</creatorcontrib><creatorcontrib>Sasaki, Makoto</creatorcontrib><creatorcontrib>Fuse, Nobuo</creatorcontrib><creatorcontrib>Suzuki, Yoichi</creatorcontrib><creatorcontrib>Cheng, Ching-Yu</creatorcontrib><creatorcontrib>Khor, Chiea Chuen</creatorcontrib><creatorcontrib>Baskaran, Mani</creatorcontrib><creatorcontrib>Perera, Shamira</creatorcontrib><creatorcontrib>Aung, Tin</creatorcontrib><creatorcontrib>Vithana, Eranga N</creatorcontrib><creatorcontrib>Cooke Bailey, Jessica N</creatorcontrib><creatorcontrib>Kang, Jae H</creatorcontrib><creatorcontrib>Pasquale, Louis R</creatorcontrib><creatorcontrib>Haines, Jonathan L</creatorcontrib><creatorcontrib>Wiggs, Janey L</creatorcontrib><creatorcontrib>Burdon, Kathryn P</creatorcontrib><creatorcontrib>Gharahkhani, Puya</creatorcontrib><creatorcontrib>Hewitt, Alex W</creatorcontrib><creatorcontrib>Mackey, David A</creatorcontrib><creatorcontrib>MacGregor, Stuart</creatorcontrib><creatorcontrib>Craig, Jamie E</creatorcontrib><creatorcontrib>Allingham, R Rand</creatorcontrib><creatorcontrib>Hauser, Micheal</creatorcontrib><creatorcontrib>Ashaye, Adeyinka</creatorcontrib><creatorcontrib>Budenz, Donald L</creatorcontrib><creatorcontrib>Akafo, Stephan</creatorcontrib><creatorcontrib>Williams, Susan E I</creatorcontrib><creatorcontrib>Kamatani, Yoichiro</creatorcontrib><creatorcontrib>Nakazawa, Toru</creatorcontrib><creatorcontrib>Kubo, Michiaki</creatorcontrib><creatorcontrib>Japan Glaucoma Society Omics Group (JGS-OG)</creatorcontrib><creatorcontrib>NEIGHBORHOOD Consortium</creatorcontrib><creatorcontrib>NEIGHBORHOOD Consortium</creatorcontrib><creatorcontrib>Japan Glaucoma Society Omics Group (JGS-OG)</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shiga, Yukihiro</au><au>Akiyama, Masato</au><au>Nishiguchi, Koji M</au><au>Sato, Kota</au><au>Shimozawa, Nobuhiro</au><au>Takahashi, Atsushi</au><au>Momozawa, Yukihide</au><au>Hirata, Makoto</au><au>Matsuda, Koichi</au><au>Yamaji, Taiki</au><au>Iwasaki, Motoki</au><au>Tsugane, Shoichiro</au><au>Oze, Isao</au><au>Mikami, Haruo</au><au>Naito, Mariko</au><au>Wakai, Kenji</au><au>Yoshikawa, Munemitsu</au><au>Miyake, Masahiro</au><au>Yamashiro, Kenji</au><au>Kashiwagi, Kenji</au><au>Iwata, Takeshi</au><au>Mabuchi, Fumihiko</au><au>Takamoto, Mitsuko</au><au>Ozaki, Mineo</au><au>Kawase, Kazuhide</au><au>Aihara, Makoto</au><au>Araie, Makoto</au><au>Yamamoto, Tetsuya</au><au>Kiuchi, Yoshiaki</au><au>Nakamura, Makoto</au><au>Ikeda, Yasuhiro</au><au>Sonoda, Koh-Hei</au><au>Ishibashi, Tatsuro</au><au>Nitta, Koji</au><au>Iwase, Aiko</au><au>Shirato, Shiroaki</au><au>Oka, Yoshitaka</au><au>Satoh, Mamoru</au><au>Sasaki, Makoto</au><au>Fuse, Nobuo</au><au>Suzuki, Yoichi</au><au>Cheng, Ching-Yu</au><au>Khor, Chiea Chuen</au><au>Baskaran, Mani</au><au>Perera, Shamira</au><au>Aung, Tin</au><au>Vithana, Eranga N</au><au>Cooke Bailey, Jessica N</au><au>Kang, Jae H</au><au>Pasquale, Louis R</au><au>Haines, Jonathan L</au><au>Wiggs, Janey L</au><au>Burdon, Kathryn P</au><au>Gharahkhani, Puya</au><au>Hewitt, Alex W</au><au>Mackey, David A</au><au>MacGregor, Stuart</au><au>Craig, Jamie E</au><au>Allingham, R Rand</au><au>Hauser, Micheal</au><au>Ashaye, Adeyinka</au><au>Budenz, Donald L</au><au>Akafo, Stephan</au><au>Williams, Susan E I</au><au>Kamatani, Yoichiro</au><au>Nakazawa, Toru</au><au>Kubo, Michiaki</au><aucorp>Japan Glaucoma Society Omics Group (JGS-OG)</aucorp><aucorp>NEIGHBORHOOD Consortium</aucorp><aucorp>NEIGHBORHOOD Consortium</aucorp><aucorp>Japan Glaucoma Society Omics Group (JGS-OG)</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2018-04-15</date><risdate>2018</risdate><volume>27</volume><issue>8</issue><spage>1486</spage><epage>1496</epage><pages>1486-1496</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>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 < 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.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>29452408</pmid><doi>10.1093/hmg/ddy053</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0001-8217-1249</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 2018-04, Vol.27 (8), p.1486-1496 |
| issn | 0964-6906 1460-2083 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6251544 |
| source | Oxford Journals Online |
| 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 |
| title | Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma |
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