A genome-wide association study of corneal astigmatism: The CREAM Consortium.
Year: 2018
Type: article
Abstract: Purpose: 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: ). Conclusions: , 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.
Source: PubMed Central
DOI: 10.7892/boris.114871
Authors: Shah, Rupal L, Li, Qing, Zhao, Wanting, Tedja, Milly S, Tideman, J Willem L, Khawaja, Anthony P, Fan, Qiao, Yazar, Seyhan, Williams, Katie M, Verhoeven, Virginie J M, Xie, Jing, Wang, Ya Xing, Hess, Moritz, Nickels, Stefan, Lackner, Karl J, Pärssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, Uitterlinden, André, Rivadeneira, Fernando, Jaddoe, Vincent W V, Hysi, Pirro G, Sim, Xueling, Tan, Nicholas, Tham, Yih-Chung, Sensaki, Sonoko, Hofman, Albert, Vingerling, Johannes R, Jonas, Jost B, Mitchell, Paul, Hammond, Christopher J, Höhn, René Gerhard Joachim, Baird, Paul N, Wong, Tien-Yin, Cheng, Chinfsg-Yu, Teo, Yik Ying, Mackey, David A, Williams, Cathy, Saw, Seang-Mei, Klaver, Caroline C W, Guggenheim, Jeremy A, Bailey-Wilson, Joan E
Institutions: Cardiff University, National Institutes of Health, National Human Genome Research Institute, Singapore National Eye Center, Singapore Eye Research Institute, Duke-NUS Medical School, Erasmus MC, Moorfields Eye Hospital NHS Foundation Trust, University of Cambridge, NIHR Moorfields Biomedical Research Centre, University College London, Lions Eye Institute, The University of Western Australia, Institute of Genetics and Cancer, MRC Human Genetics Unit, University of Edinburgh, King's College London, The University of Melbourne, The Royal Victorian Eye & Ear Hospital, Centre for Eye Research Australia, Beijing Tongren Hospital, Capital Medical University, University Medical Center of the Johannes Gutenberg University Mainz, Central Finland Health Care District, University of Jyväskylä, University of Helsinki, Helsinki University Hospital, Istituto di Genetica Molecolare, National Research Council, IRCCS Materno Infantile Burlo Garofolo, National University of Singapore, National University Hospital, Harvard University, Heidelberg University, Medizinische Fakultät Mannheim, The University of Sydney, Westmead Institute for Medical Research, Western Sydney Local Health District, University of Bern, University Hospital of Bern, Genome Institute of Singapore, University of Bristol, Radboud University Medical Center
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: Wellcome Trust, NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research, National Institute for Health and Care Research, King's College London, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Oogfonds, Landelijke Stichting voor Blinden en Slechtzienden, National Institutes of Health, Medical Research Council, National Medical Research Council, Biomedical Research Council
OpenAlex ID: W2787388706