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https://doi.org/10.1038/s41467-018-03646-6
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dc.title | Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases | |
dc.contributor.author | Iglesias, A.I | |
dc.contributor.author | Mishra, A | |
dc.contributor.author | Vitart, V | |
dc.contributor.author | etc. | |
dc.date.accessioned | 2020-10-20T09:49:15Z | |
dc.date.available | 2020-10-20T09:49:15Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Iglesias, A.I, Mishra, A, Vitart, V, etc. (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature Communications 9 (1) : 1864. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-018-03646-6 | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/178412 | |
dc.description.abstract | Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation. © 2018 The Author(s). | |
dc.publisher | Nature Publishing Group | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20201031 | |
dc.subject | fibroblast growth factor 1 | |
dc.subject | transcription factor RUNX2 | |
dc.subject | Wnt10a protein | |
dc.subject | ADAMTS protein | |
dc.subject | ADAMTS2 protein, human | |
dc.subject | DCN protein, human | |
dc.subject | decorin | |
dc.subject | FBN1 protein, human | |
dc.subject | fibrillin 1 | |
dc.subject | KERA protein, human | |
dc.subject | LUM protein, human | |
dc.subject | Transforming Growth Factor beta2 | |
dc.subject | lumican | |
dc.subject | proteoglycan | |
dc.subject | TGFB2 protein, human | |
dc.subject | transforming growth factor beta2 | |
dc.subject | collagen | |
dc.subject | complexity | |
dc.subject | eye | |
dc.subject | genetic analysis | |
dc.subject | genome | |
dc.subject | meta-analysis | |
dc.subject | ADAMTS2 gene | |
dc.subject | ADAMTS6 gene | |
dc.subject | Article | |
dc.subject | case control study | |
dc.subject | central corneal thickness | |
dc.subject | cohort analysis | |
dc.subject | COL12A1 gene | |
dc.subject | COL4A3 gene | |
dc.subject | COL8A2 gene | |
dc.subject | connective tissue | |
dc.subject | controlled study | |
dc.subject | cornea dystrophy | |
dc.subject | Ehlers Danlos syndrome | |
dc.subject | eye disease | |
dc.subject | FAM46A gene | |
dc.subject | FBN1 gene | |
dc.subject | FNDC3B gene | |
dc.subject | gene | |
dc.subject | gene locus | |
dc.subject | genome-wide association study | |
dc.subject | human | |
dc.subject | keratoconus | |
dc.subject | Loeys Dietz syndrome | |
dc.subject | LTBP1 gene | |
dc.subject | major clinical study | |
dc.subject | Marfan syndrome | |
dc.subject | myopia | |
dc.subject | NR3C2 gene | |
dc.subject | open angle glaucoma | |
dc.subject | RABGEF1 gene | |
dc.subject | SAMD9 gene | |
dc.subject | STAG1 gene | |
dc.subject | TBL1XR1 gene | |
dc.subject | TGFB2 gene | |
dc.subject | THBS2 gene | |
dc.subject | TIPARP gene | |
dc.subject | abnormalities | |
dc.subject | Asian continental ancestry group | |
dc.subject | Caucasian | |
dc.subject | congenital cornea dystrophy | |
dc.subject | cornea | |
dc.subject | cornea disease | |
dc.subject | ethnology | |
dc.subject | eye disease | |
dc.subject | gene expression | |
dc.subject | genetics | |
dc.subject | human genome | |
dc.subject | Mendelian randomization analysis | |
dc.subject | meta analysis | |
dc.subject | metabolism | |
dc.subject | pathology | |
dc.subject | quantitative trait | |
dc.subject | quantitative trait locus | |
dc.subject | single nucleotide polymorphism | |
dc.subject | ADAMTS Proteins | |
dc.subject | Asian Continental Ancestry Group | |
dc.subject | Cornea | |
dc.subject | Corneal Diseases | |
dc.subject | Corneal Dystrophies, Hereditary | |
dc.subject | Decorin | |
dc.subject | Ehlers-Danlos Syndrome | |
dc.subject | European Continental Ancestry Group | |
dc.subject | Eye Diseases, Hereditary | |
dc.subject | Fibrillin-1 | |
dc.subject | Gene Expression | |
dc.subject | Genome, Human | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Glaucoma, Open-Angle | |
dc.subject | Humans | |
dc.subject | Keratoconus | |
dc.subject | Loeys-Dietz Syndrome | |
dc.subject | Lumican | |
dc.subject | Marfan Syndrome | |
dc.subject | Mendelian Randomization Analysis | |
dc.subject | Myopia | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Proteoglycans | |
dc.subject | Quantitative Trait Loci | |
dc.subject | Quantitative Trait, Heritable | |
dc.type | Article | |
dc.contributor.department | DUKE-NUS MEDICAL SCHOOL | |
dc.contributor.department | SAW SWEE HOCK SCHOOL OF PUBLIC HEALTH | |
dc.contributor.department | BIOCHEMISTRY | |
dc.contributor.department | OPHTHALMOLOGY | |
dc.description.doi | 10.1038/s41467-018-03646-6 | |
dc.description.sourcetitle | Nature Communications | |
dc.description.volume | 9 | |
dc.description.issue | 1 | |
dc.description.page | 1864 | |
dc.published.state | published | |
Appears in Collections: | Staff Publications Elements |
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