Accès ouvert déclaré 2019 article

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Pieter W. M. Bonnemaijer, Adriana I. Iglesias, Puya Gharahkhani, Véronique Vitart, Anthony P. Khawaja, Mark Simcoe, René Höhn, Angela J. Cree, Rob P. Igo, Kathryn P. Burdon, Jamie E. Craig, Alex W. Hewitt, Jost B. Jonas, Chiea-Cheun Khor, Francesca Pasutto, David A. Mackey, Paul Mitchell, Aniket Mishra, Calvin Chi Pui Pang, Louis R. Pasquale, Henriette Springelkamp, Guðmar Þorleifsson, Unnur Þorsteinsdóttir, Ananth C. Viswanathan, Robert Wojciechowski, Tien Yin Wong, Terrri L Young, Tanja Zeller, Rand Allingham, Donald L. Budenz, Jessica N. Cooke Bailey, John H. Fingert, Douglas Gaasterland, Teresa Gaasterland, Jonathan L. Haines, Lisa Hark, Michael A. Hauser, Jae H. Kang, Peter Kraft, Richard Lee, Paul R. Lichter, Yutao Liu, Sayoko E. Moroi, Margaret Pericak, Anthony Realini, Doug Rhee, Julia R. Richards, Robert Ritch, William K. Scott, Kuldev Singh, Arthur J. Sit, Douglas Vollrath, Robert N. Weinreb, Gadi Wollstein, Don Zack Wilmer, Denize Atan, Tariq Aslam, Sarah Barman, Peter Blows, Catey Bunce, Roxana O. Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, David P. Crabb, Philippa M. Cumberland, Alexander Day, Parul Desai, Bal Dhillon, Andrew D. Dick, Cathy Egan, Sarah Ennis, Paul J. Foster, Marcus Fruttiger, John Gallacher, David F. Garway, Jane Whitney Gibson, Dan Gore, Jeremy A. Guggenheim, Alison J. Hardcastle, Simon Harding, Ruth Hogg, Pearse A. Keane, Peng T. Khaw, Gerassimos Lascaratos, Tom MacGillivray, Sarah Mackie, Keith R. Martin, Michelle McGaughey, Bernadette McGuinness, Gareth J. McKay, Martin McKibbin, Danny Mitry, Tony Moore, Zaynah Muthy, Eoin O’Sullivan, Christopher G. Owen, Praveen J. Patel, Euan Paterson, Tünde Pető, Axel Petzold, Jugnoo S. Rahi, Alicja R. Rudnikca, Jay Self, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas G. Strouthidis, Cathie Sudlow, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, S A Vernon, Cathy Williams, Katie Williams, Jayne V. Woodside, Max Yates, Jennifer Yip, Yalin Zheng, Aslihan Gerhold‐Ay, Stefan Nickels, James F. Wilson, Caroline Hayward, Thibaud Boutin, Ozren Polašek, Tin Aung, Chiea Chuen Khor, Najaf Amin, Andrew Lotery, Janey L. Wiggs, Ching‐Yu Cheng, Pirro G. Hysi, Christopher J. Hammond, Alberta A. H. J. Thiadens, Stuart MacGregor, Caroline C. W. Klaver, Cornelia M. van Duijn

62Citations signalées, ce qui n’est pas une note de qualité

82Institutions déclarées

11Pays d’affiliation déclarés

Rattachement africain : nl, au, gb, de, us, sg, hk, is, ch, ca, hr. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

Abstract A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. At this point, validation of these variants in POAG cohorts is hampered by the high degree of heterogeneity. Our results show that multi-trait analysis is a valid approach to identify novel pleiotropic variants for ONH.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.

Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: Multi-trait genome-wide association study identifies new loci associated with optic disc parameters
Date Crossref: 27/11/2019
Éditeur: Springer Science and Business Media LLC
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Erasmus MC Rotterdam Eye Hospital Erasmus University Rotterdam QIMR Berghofer Medical Research Institute Institute of Genetics and Cancer Medical Research Council University of Edinburgh Moorfields Eye Hospital NHS Foundation Trust University College London King's College London Johannes Gutenberg University Mainz University Medical Center of the Johannes Gutenberg University Mainz University of Southampton Harvard University University of Tasmania Flinders University Centre for Eye Research Australia Heidelberg University University Hospital Heidelberg Genome Institute of Singapore Friedrich-Alexander-Universität Erlangen-Nürnberg Lions Eye Institute The University of Western Australia The University of Sydney Chinese University of Hong Kong Icahn School of Medicine at Mount Sinai deCODE Genetics (Iceland)Johns Hopkins University National Human Genome Research Institute Singapore National Eye Center Singapore Eye Research Institute University of Wisconsin–Madison Universität Hamburg University Medical Center Hamburg-Eppendorf Marshfield Clinic Duke Medical Center University of North Carolina at Chapel Hill Case Western Reserve University University of Iowa Scripps Institution of Oceanography Sidney Kimmel Cancer Center Brigham and Women's Hospital University of Miami University of Michigan Augusta University Discovery Institute Georgia Regents Medical Center West Virginia University University School New York Eye and Ear Infirmary New York University Stanford University Mayo Clinic in Arizona University of California San Diego Johns Hopkins Hospital University of Bristol University of Manchester Kingston University London University of Leeds UCL Biomedical Research Centre Queen's University Belfast Great Ormond Street Hospital University of Oxford Cardiff University University of Liverpool University of Cambridge Leeds Teaching Hospitals NHS Trust King's College Hospital NHS Foundation Trust University of London Newcastle University Gloucestershire Hospitals NHS Foundation Trust University of Dundee Nottingham University Hospitals NHS Trust University of East Anglia Institute for Medical Informatics and Biostatistics Centre for Global Health Research University of Split National University of Singapore Duke-NUS Medical School Radboud University Nijmegen Radboud University Medical Center Institute of Molecular and Clinical Ophthalmology Basel

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Glaucoma and retinal disordersGenetic Associations and EpidemiologyCorneal surgery and disorders

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