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dc.contributor.authorShah, Rupal L.
dc.contributor.authorLi, Qing
dc.contributor.authorZhao, Wanting
dc.contributor.authorTedja, Milly S.
dc.contributor.authorTideman, J. Willem L.
dc.contributor.authorKhawaja, Anthony P.
dc.contributor.authorFan, Qiao
dc.contributor.authorYazar, Seyhan
dc.contributor.authorWilliams, Katie M.
dc.contributor.authorVerhoeven, Virginie J.M.
dc.contributor.authorXie, Jing
dc.contributor.authorWang, Ya Xing
dc.contributor.authorHess, Moritz
dc.contributor.authorNickels, Stefan
dc.contributor.authorLackner, Karl J.
dc.contributor.authorPärssinen, Olavi
dc.contributor.authorWedenoja, Juho
dc.contributor.authorBiino, Ginevra
dc.contributor.authorConcas, Maria Pina
dc.contributor.authorUitterlinden, André
dc.contributor.authorRivadeneira, Fernando
dc.contributor.authorJaddoe, Vincent W.V.
dc.contributor.authorHysi, Pirro G.
dc.contributor.authorSim, Xueling
dc.contributor.authorTan, Nicholas
dc.contributor.authorTham, Yih-Chung
dc.contributor.authorSensaki, Sonoko
dc.contributor.authorHofman, Albert
dc.contributor.authorVingerling, Johannes R.
dc.contributor.authorJonas, Jost B.
dc.contributor.authorMitchell, Paul
dc.contributor.authorHammond, Christopher J.
dc.contributor.authorHöhn, René
dc.contributor.authorBaird, Paul N.
dc.contributor.authorWong, Tien-Yin
dc.contributor.authorCheng, Chinfsg-Yu
dc.contributor.authorTeo, Yik Ying
dc.contributor.authorMackey, David A.
dc.contributor.authorWilliams, Cathy
dc.contributor.authorSaw, Seang-Mei
dc.contributor.authorKlaver, Caroline C.W.
dc.contributor.authorGuggenheim, Jeremy A.
dc.contributor.authorBailey-Wilson, Joan E.
dc.identifier.citationShah, R. L., Li, Q., Zhao, W., Tedja, M. S., Tideman, J. W. L., Khawaja, A. P., . . . Bailey-Wilson, J. E. (2018). A genome-wide association study of corneal astigmatism : The CREAM Consortium. <em>Molecular Vision</em>, 24, 127-142. Retrieved from <a href=""></a>
dc.description.abstractPurpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08–1.16), p=5.55×10−9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans—claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.
dc.publisherMolecular Vision
dc.relation.ispartofseriesMolecular Vision
dc.subject.othergenetic markers
dc.subject.othercorneal astigmatism
dc.titleA genome-wide association study of corneal astigmatism : The CREAM Consortium
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.contributor.oppiaineGerontologia ja kansanterveys
dc.type.coarjournal article
dc.rights.copyright© the Authors, 2018. Published by Molecular Vision. This is an open access article distributed under the terms of the Creative Commons License.

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© the Authors, 2018. Published by Molecular Vision.  This is an open access article distributed under the terms of the Creative Commons License.
Except where otherwise noted, this item's license is described as © the Authors, 2018. Published by Molecular Vision. This is an open access article distributed under the terms of the Creative Commons License.