A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel, and show that the genes in these regions implicat...

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Autores principales: Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
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Publicado: Nature Portfolio 2021
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spelling oai:doaj.org-article:6eed77457b784436985e138a87c605442021-12-02T13:20:00ZA multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus10.1038/s42003-021-01784-02399-3642https://doaj.org/article/6eed77457b784436985e138a87c605442021-03-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-01784-0https://doaj.org/toc/2399-3642Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel, and show that the genes in these regions implicate genetic pathways involved in collagen matrix integrity and cell differentiation.Alison J. HardcastlePetra LiskovaYelena BykhovskayaBennet J. McComishAlice E. DavidsonChris F. InglehearnXiaohui LiHélène ChoquetMahmoud HabeebSionne E. M. LucasSrujana SahebjadaNikolas PontikosKarla E. Rojas LopezAnthony P. KhawajaManir AliLubica DudakovaPavlina SkalickaBart T. H. Van DoorenAnnette J. M. GeerardsChristoph W. HaudumValeria Lo FaroAbi TenenMark J. SimcoeKarina PatasovaDarioush YarrandJie YinSalina SiddiquiAine RiceLayal Abi FarrajYii-Der Ida ChenJugnoo S. RahiRonald M. KraussElisabeth TheuschJac C. CharlesworthLoretta Szczotka-FlynnCarmel ToomesMagda A. Meester-SmoorAndrea J. RichardsonPaul A. MitchellKent D. TaylorRonald B. MellesAnthony J. AldaveRichard A. MillsKe CaoElsie ChanMark D. DaniellJie Jin WangJerome I. RotterAlex W. HewittStuart MacGregorCaroline C. W. KlaverWishal D. RamdasJamie E. CraigSudha K. IyengarDavid O’BrartEric JorgensonPaul N. BairdYaron S. RabinowitzKathryn P. BurdonChris J. HammondStephen J. TuftPirro G. HysiNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
institution DOAJ
collection DOAJ
language EN
topic Biology (General)
QH301-705.5
spellingShingle Biology (General)
QH301-705.5
Alison J. Hardcastle
Petra Liskova
Yelena Bykhovskaya
Bennet J. McComish
Alice E. Davidson
Chris F. Inglehearn
Xiaohui Li
Hélène Choquet
Mahmoud Habeeb
Sionne E. M. Lucas
Srujana Sahebjada
Nikolas Pontikos
Karla E. Rojas Lopez
Anthony P. Khawaja
Manir Ali
Lubica Dudakova
Pavlina Skalicka
Bart T. H. Van Dooren
Annette J. M. Geerards
Christoph W. Haudum
Valeria Lo Faro
Abi Tenen
Mark J. Simcoe
Karina Patasova
Darioush Yarrand
Jie Yin
Salina Siddiqui
Aine Rice
Layal Abi Farraj
Yii-Der Ida Chen
Jugnoo S. Rahi
Ronald M. Krauss
Elisabeth Theusch
Jac C. Charlesworth
Loretta Szczotka-Flynn
Carmel Toomes
Magda A. Meester-Smoor
Andrea J. Richardson
Paul A. Mitchell
Kent D. Taylor
Ronald B. Melles
Anthony J. Aldave
Richard A. Mills
Ke Cao
Elsie Chan
Mark D. Daniell
Jie Jin Wang
Jerome I. Rotter
Alex W. Hewitt
Stuart MacGregor
Caroline C. W. Klaver
Wishal D. Ramdas
Jamie E. Craig
Sudha K. Iyengar
David O’Brart
Eric Jorgenson
Paul N. Baird
Yaron S. Rabinowitz
Kathryn P. Burdon
Chris J. Hammond
Stephen J. Tuft
Pirro G. Hysi
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
description Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel, and show that the genes in these regions implicate genetic pathways involved in collagen matrix integrity and cell differentiation.
format article
author Alison J. Hardcastle
Petra Liskova
Yelena Bykhovskaya
Bennet J. McComish
Alice E. Davidson
Chris F. Inglehearn
Xiaohui Li
Hélène Choquet
Mahmoud Habeeb
Sionne E. M. Lucas
Srujana Sahebjada
Nikolas Pontikos
Karla E. Rojas Lopez
Anthony P. Khawaja
Manir Ali
Lubica Dudakova
Pavlina Skalicka
Bart T. H. Van Dooren
Annette J. M. Geerards
Christoph W. Haudum
Valeria Lo Faro
Abi Tenen
Mark J. Simcoe
Karina Patasova
Darioush Yarrand
Jie Yin
Salina Siddiqui
Aine Rice
Layal Abi Farraj
Yii-Der Ida Chen
Jugnoo S. Rahi
Ronald M. Krauss
Elisabeth Theusch
Jac C. Charlesworth
Loretta Szczotka-Flynn
Carmel Toomes
Magda A. Meester-Smoor
Andrea J. Richardson
Paul A. Mitchell
Kent D. Taylor
Ronald B. Melles
Anthony J. Aldave
Richard A. Mills
Ke Cao
Elsie Chan
Mark D. Daniell
Jie Jin Wang
Jerome I. Rotter
Alex W. Hewitt
Stuart MacGregor
Caroline C. W. Klaver
Wishal D. Ramdas
Jamie E. Craig
Sudha K. Iyengar
David O’Brart
Eric Jorgenson
Paul N. Baird
Yaron S. Rabinowitz
Kathryn P. Burdon
Chris J. Hammond
Stephen J. Tuft
Pirro G. Hysi
author_facet Alison J. Hardcastle
Petra Liskova
Yelena Bykhovskaya
Bennet J. McComish
Alice E. Davidson
Chris F. Inglehearn
Xiaohui Li
Hélène Choquet
Mahmoud Habeeb
Sionne E. M. Lucas
Srujana Sahebjada
Nikolas Pontikos
Karla E. Rojas Lopez
Anthony P. Khawaja
Manir Ali
Lubica Dudakova
Pavlina Skalicka
Bart T. H. Van Dooren
Annette J. M. Geerards
Christoph W. Haudum
Valeria Lo Faro
Abi Tenen
Mark J. Simcoe
Karina Patasova
Darioush Yarrand
Jie Yin
Salina Siddiqui
Aine Rice
Layal Abi Farraj
Yii-Der Ida Chen
Jugnoo S. Rahi
Ronald M. Krauss
Elisabeth Theusch
Jac C. Charlesworth
Loretta Szczotka-Flynn
Carmel Toomes
Magda A. Meester-Smoor
Andrea J. Richardson
Paul A. Mitchell
Kent D. Taylor
Ronald B. Melles
Anthony J. Aldave
Richard A. Mills
Ke Cao
Elsie Chan
Mark D. Daniell
Jie Jin Wang
Jerome I. Rotter
Alex W. Hewitt
Stuart MacGregor
Caroline C. W. Klaver
Wishal D. Ramdas
Jamie E. Craig
Sudha K. Iyengar
David O’Brart
Eric Jorgenson
Paul N. Baird
Yaron S. Rabinowitz
Kathryn P. Burdon
Chris J. Hammond
Stephen J. Tuft
Pirro G. Hysi
author_sort Alison J. Hardcastle
title A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
title_short A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
title_full A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
title_fullStr A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
title_full_unstemmed A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
title_sort multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/6eed77457b784436985e138a87c60544
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