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dc.contributor.authorIglesias, Adrianaen_US
dc.contributor.authorMishra, Aniketen_US
dc.contributor.authorVitart, Veroniqueen_US
dc.contributor.authorBykhovskaya, Yelenaen_US
dc.contributor.authorHohn, Reneen_US
dc.contributor.authorSpringelkamp, Henrieten_US
dc.contributor.authorCuellar-Partida, Gabrielen_US
dc.contributor.authorGharahkhani, Puyaen_US
dc.contributor.authorCooke Bailey, Jessica Nen_US
dc.contributor.authorWilloughby, Colin Een_US
dc.contributor.authorLi, Xiaohuien_US
dc.contributor.authorYazar, Seyhanen_US
dc.contributor.authorNag, Abhisheken_US
dc.contributor.authorKhawaja, Anthonyen_US
dc.contributor.authorPolasek, Ozrenen_US
dc.contributor.authorSiscovick, Daviden_US
dc.contributor.authorMitchell, Paulen_US
dc.contributor.authorTham, Yih Chungen_US
dc.contributor.authorHaines, Jonathan Len_US
dc.contributor.authorKearns, Lisa Sen_US
dc.contributor.authorHayward, Carolineen_US
dc.contributor.authorShi, Yanen_US
dc.contributor.authorvan Leeuwen, Elisabeth Men_US
dc.contributor.authorTaylor, Kent Den_US
dc.contributor.authorBlue Mountains Eye Study - GWAS group,en_US
dc.contributor.authorBonnemaijer, Pieteren_US
dc.contributor.authorRotter, Jerome Ien_US
dc.contributor.authorMartin, Nicholas Gen_US
dc.contributor.authorZeller, Tanjaen_US
dc.contributor.authorMills, Richard Arthuren_US
dc.contributor.authorSouzeau, Emmanuelleen_US
dc.contributor.authorStaffieri, Sandra Een_US
dc.contributor.authorJonas, Jost Ben_US
dc.contributor.authorSchmidtmann, Ireneen_US
dc.contributor.authorBoutin, Thibauden_US
dc.contributor.authorKang, Jae Heeen_US
dc.contributor.authorLucas, Sionne Een_US
dc.contributor.authorWong, Tien Yinen_US
dc.contributor.authorBeutel, Manfred Een_US
dc.contributor.authorWilson, James Fen_US
dc.contributor.authorNeighborhood Consortiumen_US
dc.contributor.authorUitterlinden, Andre Gen_US
dc.contributor.authorVithana, Erangaen_US
dc.contributor.authorFoster, Paul Jen_US
dc.contributor.authorHysi, Pirro Gen_US
dc.contributor.authorHewitt, Alex Wen_US
dc.contributor.authorKhor, Chiea Chuenen_US
dc.contributor.authorPasquale, Louis Ren_US
dc.contributor.authorMontgomery, Grant Wen_US
dc.contributor.authorKlaver, Caroline C Wen_US
dc.contributor.authorAung, Tinen_US
dc.contributor.authorPfeiffer, Norberten_US
dc.contributor.authorMackey, David Aen_US
dc.contributor.authorHammond, Christopher Jen_US
dc.contributor.authorCheng, Ching-Yuen_US
dc.contributor.authorCraig, Jamie Een_US
dc.contributor.authorRabinowitz, Yaron Sen_US
dc.contributor.authorWiggs, Janey Len_US
dc.contributor.authorvan Duijn, Cornelia Men_US
dc.contributor.authorMacGregor, Stuarten_US
dc.date.accessioned2019-01-22T05:57:13Z
dc.date.available2019-01-22T05:57:13Z
dc.date.issued2018-05-14
dc.identifier.citationIglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., … Höhn, R. (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature Communications, 9(1). https://doi.org/10.1038/s41467-018-03646-6en_US
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/2328/38874
dc.descriptionOpen Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. This article has been corrected, correction published 14 May 2018en_US
dc.description.abstractCentral 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.en_US
dc.language.isoenen_US
dc.publisherSpringer Natureen_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/535074en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/1023911en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/974159en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/211069en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/457349en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/512423en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/475604en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/529912en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/358702en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/632909en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/1028444en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/1021105en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/350415en_US
dc.rights© The Author(s) 2018en_US
dc.subjectGenetics of the nervous systemen_US
dc.subjectGenetics researchen_US
dc.subjectGenome-wide association studiesen_US
dc.subjectHereditary eye diseaseen_US
dc.titleCross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseasesen_US
dc.typeArticleen_US
dc.relation.grantnumberNHMRC/535074en_US
dc.relation.grantnumbernhmrc/1023911en_US
dc.relation.grantnumberNHMRC/974159en_US
dc.relation.grantnumberNHMRC/211069en_US
dc.relation.grantnumberNHMRC/457349en_US
dc.relation.grantnumberNHMRC/512423en_US
dc.relation.grantnumberNHMRC/475604en_US
dc.relation.grantnumberNHMRC/529912en_US
dc.relation.grantnumberNHMRC/358702en_US
dc.relation.grantnumberNHMRC/632909en_US
dc.relation.grantnumberNHMRC/1028444en_US
dc.relation.grantnumberNHMRC/1021105en_US
dc.relation.grantnumberNHMRC/350415en_US
dc.identifier.doihttps://doi.org/10.1038/s41467-018-03646-6en_US
dc.rights.holderThe Author(s)en_US
dc.rights.licenseCC-BY
local.contributor.authorOrcidLookupIglesias, Adriana: https://orcid.org/0000-0001-5532-764Xen_US
local.contributor.authorOrcidLookupGharahkhani, Puya: https://orcid.org/0000-0002-4203-5952en_US
local.contributor.authorOrcidLookupCooke Bailey, Jessica N: https://orcid.org/0000-0002-4001-8702en_US
local.contributor.authorOrcidLookupLi, Xiaohui: https://orcid.org/0000-0002-5037-3572en_US
local.contributor.authorOrcidLookupKhawaja, Anthony: https://orcid.org/0000-0001-6802-8585en_US
local.contributor.authorOrcidLookupHaines, Jonathan L: https://orcid.org/0000-0002-4351-4728en_US
local.contributor.authorOrcidLookupHayward, Caroline: https://orcid.org/0000-0002-9405-9550en_US
local.contributor.authorOrcidLookupBonnemaijer, Pieter: https://orcid.org/0000-0001-5154-6765en_US
local.contributor.authorOrcidLookupSouzeau, Emmanuelle: https://orcid.org/0000-0002-2015-6577en_US
local.contributor.authorOrcidLookupJonas, Jost B: https://orcid.org/0000-0003-2972-5227en_US
local.contributor.authorOrcidLookupStaffieri, Sandra E: https://orcid.org/0000-0003-3131-9359en_US
local.contributor.authorOrcidLookupKang, Jae Hee: https://orcid.org/0000-0003-4812-0557en_US
local.contributor.authorOrcidLookupWilson, James F: https://orcid.org/0000-0001-5751-9178en_US
local.contributor.authorOrcidLookupFoster, Paul J: https://orcid.org/0000-0002-4755-177Xen_US
local.contributor.authorOrcidLookupHysi, Pirro G: https://orcid.org/0000-0001-5752-2510en_US
local.contributor.authorOrcidLookupHewitt, Alex W: https://orcid.org/0000-0002-5123-5999en_US
local.contributor.authorOrcidLookupKhor, Chiea Chuen: https://orcid.org/0000-0002-1128-4729en_US
local.contributor.authorOrcidLookupPasquale, Louis R: https://orcid.org/0000-0002-5835-3496en_US
local.contributor.authorOrcidLookupMontgomery, Grant W: https://orcid.org/0000-0002-4140-8139en_US
local.contributor.authorOrcidLookupKlaver, Caroline C W: https://orcid.org/0000-0002-2355-5258en_US
local.contributor.authorOrcidLookupHammond, Christopher J: https://orcid.org/0000-0002-3227-2620en_US
local.contributor.authorOrcidLookupCraig, Jamie E: https://orcid.org/0000-0001-9955-9696en_US
local.contributor.authorOrcidLookupWiggs, Janey L: https://orcid.org/0000-0003-1890-3278en_US
local.contributor.authorOrcidLookupBurdon, Kathryn Penelope: https://orcid.org/0000-0001-8217-1249en_US
local.contributor.authorOrcidLookupMacGregor, Stuart: https://orcid.org/0000-0001-6731-8142en_US


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