Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.

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Autores principales: Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor
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Publicado: Nature Portfolio 2018
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spelling oai:doaj.org-article:f7334f0a8f8b42b18a3180c2a6650fb92021-12-02T15:33:36ZCross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases10.1038/s41467-018-03646-62041-1723https://doaj.org/article/f7334f0a8f8b42b18a3180c2a6650fb92018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-03646-6https://doaj.org/toc/2041-1723Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.Adriana I. IglesiasAniket MishraVeronique VitartYelena BykhovskayaRené HöhnHenriët SpringelkampGabriel Cuellar-PartidaPuya GharahkhaniJessica N. Cooke BaileyColin E. WilloughbyXiaohui LiSeyhan YazarAbhishek NagAnthony P. KhawajaOzren PolašekDavid SiscovickPaul MitchellYih Chung ThamJonathan L. HainesLisa S. KearnsCaroline HaywardYuan ShiElisabeth M. van LeeuwenKent D. TaylorBlue Mountains Eye Study—GWAS groupPieter BonnemaijerJerome I. RotterNicholas G. MartinTanja ZellerRichard A. MillsEmmanuelle SouzeauSandra E. StaffieriJost B. JonasIrene SchmidtmannThibaud BoutinJae H. KangSionne E. M. LucasTien Yin WongManfred E. BeutelJames F. WilsonNEIGHBORHOOD ConsortiumWellcome Trust Case Control Consortium 2 (WTCCC2)André G. UitterlindenEranga N. VithanaPaul J. FosterPirro G. HysiAlex W. HewittChiea Chuen KhorLouis R. PasqualeGrant W. MontgomeryCaroline C. W. KlaverTin AungNorbert PfeifferDavid A. MackeyChristopher J. HammondChing-Yu ChengJamie E. CraigYaron S. RabinowitzJaney L. WiggsKathryn P. BurdonCornelia M. van DuijnStuart MacGregorNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Adriana I. Iglesias
Aniket Mishra
Veronique Vitart
Yelena Bykhovskaya
René Höhn
Henriët Springelkamp
Gabriel Cuellar-Partida
Puya Gharahkhani
Jessica N. Cooke Bailey
Colin E. Willoughby
Xiaohui Li
Seyhan Yazar
Abhishek Nag
Anthony P. Khawaja
Ozren Polašek
David Siscovick
Paul Mitchell
Yih Chung Tham
Jonathan L. Haines
Lisa S. Kearns
Caroline Hayward
Yuan Shi
Elisabeth M. van Leeuwen
Kent D. Taylor
Blue Mountains Eye Study—GWAS group
Pieter Bonnemaijer
Jerome I. Rotter
Nicholas G. Martin
Tanja Zeller
Richard A. Mills
Emmanuelle Souzeau
Sandra E. Staffieri
Jost B. Jonas
Irene Schmidtmann
Thibaud Boutin
Jae H. Kang
Sionne E. M. Lucas
Tien Yin Wong
Manfred E. Beutel
James F. Wilson
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2 (WTCCC2)
André G. Uitterlinden
Eranga N. Vithana
Paul J. Foster
Pirro G. Hysi
Alex W. Hewitt
Chiea Chuen Khor
Louis R. Pasquale
Grant W. Montgomery
Caroline C. W. Klaver
Tin Aung
Norbert Pfeiffer
David A. Mackey
Christopher J. Hammond
Ching-Yu Cheng
Jamie E. Craig
Yaron S. Rabinowitz
Janey L. Wiggs
Kathryn P. Burdon
Cornelia M. van Duijn
Stuart MacGregor
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
description Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.
format article
author Adriana I. Iglesias
Aniket Mishra
Veronique Vitart
Yelena Bykhovskaya
René Höhn
Henriët Springelkamp
Gabriel Cuellar-Partida
Puya Gharahkhani
Jessica N. Cooke Bailey
Colin E. Willoughby
Xiaohui Li
Seyhan Yazar
Abhishek Nag
Anthony P. Khawaja
Ozren Polašek
David Siscovick
Paul Mitchell
Yih Chung Tham
Jonathan L. Haines
Lisa S. Kearns
Caroline Hayward
Yuan Shi
Elisabeth M. van Leeuwen
Kent D. Taylor
Blue Mountains Eye Study—GWAS group
Pieter Bonnemaijer
Jerome I. Rotter
Nicholas G. Martin
Tanja Zeller
Richard A. Mills
Emmanuelle Souzeau
Sandra E. Staffieri
Jost B. Jonas
Irene Schmidtmann
Thibaud Boutin
Jae H. Kang
Sionne E. M. Lucas
Tien Yin Wong
Manfred E. Beutel
James F. Wilson
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2 (WTCCC2)
André G. Uitterlinden
Eranga N. Vithana
Paul J. Foster
Pirro G. Hysi
Alex W. Hewitt
Chiea Chuen Khor
Louis R. Pasquale
Grant W. Montgomery
Caroline C. W. Klaver
Tin Aung
Norbert Pfeiffer
David A. Mackey
Christopher J. Hammond
Ching-Yu Cheng
Jamie E. Craig
Yaron S. Rabinowitz
Janey L. Wiggs
Kathryn P. Burdon
Cornelia M. van Duijn
Stuart MacGregor
author_facet Adriana I. Iglesias
Aniket Mishra
Veronique Vitart
Yelena Bykhovskaya
René Höhn
Henriët Springelkamp
Gabriel Cuellar-Partida
Puya Gharahkhani
Jessica N. Cooke Bailey
Colin E. Willoughby
Xiaohui Li
Seyhan Yazar
Abhishek Nag
Anthony P. Khawaja
Ozren Polašek
David Siscovick
Paul Mitchell
Yih Chung Tham
Jonathan L. Haines
Lisa S. Kearns
Caroline Hayward
Yuan Shi
Elisabeth M. van Leeuwen
Kent D. Taylor
Blue Mountains Eye Study—GWAS group
Pieter Bonnemaijer
Jerome I. Rotter
Nicholas G. Martin
Tanja Zeller
Richard A. Mills
Emmanuelle Souzeau
Sandra E. Staffieri
Jost B. Jonas
Irene Schmidtmann
Thibaud Boutin
Jae H. Kang
Sionne E. M. Lucas
Tien Yin Wong
Manfred E. Beutel
James F. Wilson
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2 (WTCCC2)
André G. Uitterlinden
Eranga N. Vithana
Paul J. Foster
Pirro G. Hysi
Alex W. Hewitt
Chiea Chuen Khor
Louis R. Pasquale
Grant W. Montgomery
Caroline C. W. Klaver
Tin Aung
Norbert Pfeiffer
David A. Mackey
Christopher J. Hammond
Ching-Yu Cheng
Jamie E. Craig
Yaron S. Rabinowitz
Janey L. Wiggs
Kathryn P. Burdon
Cornelia M. van Duijn
Stuart MacGregor
author_sort Adriana I. Iglesias
title Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
title_short Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
title_full Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
title_fullStr Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
title_full_unstemmed Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
title_sort cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and mendelian eye diseases
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/f7334f0a8f8b42b18a3180c2a6650fb9
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