RGD Reference Report - Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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

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  Japan Glaucoma Society Omics Group (JGS-OG),   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  NEIGHBORHOOD Consortium,   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 
Citation: Shiga Y, etal., Hum Mol Genet. 2018 Apr 15;27(8):1486-1496. doi: 10.1093/hmg/ddy053.
RGD ID: 155630591
Pubmed: PMID:29452408   (View Abstract at PubMed)
PMCID: PMC6251544   (View Article at PubMed Central)
DOI: DOI:10.1093/hmg/ddy053   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MEIS2Humanopen-angle glaucoma susceptibilityIAGP DNA:SNP::rs28480457(human)RGD 
Meis2Ratopen-angle glaucoma susceptibilityISOMEIS2 (Homo sapiens)DNA:SNP::rs28480457(human)RGD 
Meis2Mouseopen-angle glaucoma susceptibilityISOMEIS2 (Homo sapiens)DNA:SNP::rs28480457(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Meis2  (Meis homeobox 2)

Genes (Mus musculus)
Meis2  (Meis homeobox 2)

Genes (Homo sapiens)
MEIS2  (Meis homeobox 2)


Additional Information