Literature DB >> 23291589

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Yi Lu1, Veronique Vitart, Kathryn P Burdon, Chiea Chuen Khor, Yelena Bykhovskaya, Alireza Mirshahi, Alex W Hewitt, Demelza Koehn, Pirro G Hysi, Wishal D Ramdas, Tanja Zeller, Eranga N Vithana, Belinda K Cornes, Wan-Ting Tay, E Shyong Tai, Ching-Yu Cheng, Jianjun Liu, Jia-Nee Foo, Seang Mei Saw, Gudmar Thorleifsson, Kari Stefansson, David P Dimasi, Richard A Mills, Jenny Mountain, Wei Ang, René Hoehn, Virginie J M Verhoeven, Franz Grus, Roger Wolfs, Raphaële Castagne, Karl J Lackner, Henriët Springelkamp, Jian Yang, Fridbert Jonasson, Dexter Y L Leung, Li J Chen, Clement C Y Tham, Igor Rudan, Zoran Vatavuk, Caroline Hayward, Jane Gibson, Angela J Cree, Alex MacLeod, Sarah Ennis, Ozren Polasek, Harry Campbell, James F Wilson, Ananth C Viswanathan, Brian Fleck, Xiaohui Li, David Siscovick, Kent D Taylor, Jerome I Rotter, Seyhan Yazar, Megan Ulmer, Jun Li, Brian L Yaspan, Ayse B Ozel, Julia E Richards, Sayoko E Moroi, Jonathan L Haines, Jae H Kang, Louis R Pasquale, R Rand Allingham, Allison Ashley-Koch, Paul Mitchell, Jie Jin Wang, Alan F Wright, Craig Pennell, Timothy D Spector, Terri L Young, Caroline C W Klaver, Nicholas G Martin, Grant W Montgomery, Michael G Anderson, Tin Aung, Colin E Willoughby, Janey L Wiggs, Chi P Pang, Unnur Thorsteinsdottir, Andrew J Lotery, Christopher J Hammond, Cornelia M van Duijn, Michael A Hauser, Yaron S Rabinowitz, Norbert Pfeiffer, David A Mackey, Jamie E Craig, Stuart Macgregor, Tien Y Wong.   

Abstract

Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10(-8)). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT.

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Year:  2013        PMID: 23291589      PMCID: PMC3720123          DOI: 10.1038/ng.2506

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  54 in total

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2.  Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.

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Journal:  Hum Mol Genet       Date:  2011-10-07       Impact factor: 6.150

3.  Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

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4.  Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.

Authors:  Mao Mao; Adam Hedberg-Buenz; Demelza Koehn; Simon W M John; Michael G Anderson
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5.  Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA.

Authors:  Janey L Wiggs; Jae Hee Kang; Brian L Yaspan; Daniel B Mirel; Cathy Laurie; Andrew Crenshaw; Wendy Brodeur; Stephanie Gogarten; Lana M Olson; Wael Abdrabou; Elizabeth DelBono; Stephanie Loomis; Jonathan L Haines; Louis R Pasquale
Journal:  Hum Mol Genet       Date:  2011-08-26       Impact factor: 6.150

6.  The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables.

Authors:  Janey L Wiggs; Michael A Hauser; Wael Abdrabou; Robert Rand Allingham; Donald L Budenz; Elizabeth Delbono; David S Friedman; Jae H Kang; Douglas Gaasterland; Terry Gaasterland; Richard K Lee; Paul R Lichter; Stephanie Loomis; Yutao Liu; Cathy McCarty; Felipe A Medeiros; Sayoko E Moroi; Lana M Olson; Anthony Realini; Julia E Richards; Frank W Rozsa; Joel S Schuman; Kuldev Singh; Joshua D Stein; Douglas Vollrath; Robert N Weinreb; Gadi Wollstein; Brian L Yaspan; Sachiko Yoneyama; Don Zack; Kang Zhang; Margaret Pericak-Vance; Louis R Pasquale; Jonathan L Haines
Journal:  J Glaucoma       Date:  2013-09       Impact factor: 2.503

7.  Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.

Authors:  Emmanuelle Souzeau; Ivan Goldberg; Paul R Healey; Richard A D Mills; John Landers; Stuart L Graham; John R B Grigg; Bronwyn Usher; Tania Straga; April Crawford; Robert J Casson; William H Morgan; Jonathan B Ruddle; Michael A Coote; Andrew White; James Stewart; Alex W Hewitt; David A Mackey; Kathryn P Burdon; Jamie E Craig
Journal:  Clin Exp Ophthalmol       Date:  2012-08       Impact factor: 4.207

8.  Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.

Authors:  Jian Yang; Teresa Ferreira; Andrew P Morris; Sarah E Medland; Pamela A F Madden; Andrew C Heath; Nicholas G Martin; Grant W Montgomery; Michael N Weedon; Ruth J Loos; Timothy M Frayling; Mark I McCarthy; Joel N Hirschhorn; Michael E Goddard; Peter M Visscher
Journal:  Nat Genet       Date:  2012-03-18       Impact factor: 38.330

9.  Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.

Authors:  Janey L Wiggs; Brian L Yaspan; Michael A Hauser; Jae H Kang; R Rand Allingham; Lana M Olson; Wael Abdrabou; Bao J Fan; Dan Y Wang; Wendy Brodeur; Donald L Budenz; Joseph Caprioli; Andrew Crenshaw; Kristy Crooks; Elizabeth Delbono; Kimberly F Doheny; David S Friedman; Douglas Gaasterland; Terry Gaasterland; Cathy Laurie; Richard K Lee; Paul R Lichter; Stephanie Loomis; Yutao Liu; Felipe A Medeiros; Cathy McCarty; Daniel Mirel; Sayoko E Moroi; David C Musch; Anthony Realini; Frank W Rozsa; Joel S Schuman; Kathleen Scott; Kuldev Singh; Joshua D Stein; Edward H Trager; Paul Vanveldhuisen; Douglas Vollrath; Gadi Wollstein; Sachiko Yoneyama; Kang Zhang; Robert N Weinreb; Jason Ernst; Manolis Kellis; Tomohiro Masuda; Don Zack; Julia E Richards; Margaret Pericak-Vance; Louis R Pasquale; Jonathan L Haines
Journal:  PLoS Genet       Date:  2012-04-26       Impact factor: 5.917

10.  Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

Authors:  Leonieke M E van Koolwijk; Wishal D Ramdas; M Kamran Ikram; Nomdo M Jansonius; Francesca Pasutto; Pirro G Hysi; Stuart Macgregor; Sarah F Janssen; Alex W Hewitt; Ananth C Viswanathan; Jacoline B ten Brink; S Mohsen Hosseini; Najaf Amin; Dominiek D G Despriet; Jacqueline J M Willemse-Assink; Rogier Kramer; Fernando Rivadeneira; Maksim Struchalin; Yurii S Aulchenko; Nicole Weisschuh; Matthias Zenkel; Christian Y Mardin; Eugen Gramer; Ulrich Welge-Lüssen; Grant W Montgomery; Francis Carbonaro; Terri L Young; Céline Bellenguez; Peter McGuffin; Paul J Foster; Fotis Topouzis; Paul Mitchell; Jie Jin Wang; Tien Y Wong; Monika A Czudowska; Albert Hofman; Andre G Uitterlinden; Roger C W Wolfs; Paulus T V M de Jong; Ben A Oostra; Andrew D Paterson; David A Mackey; Arthur A B Bergen; André Reis; Christopher J Hammond; Johannes R Vingerling; Hans G Lemij; Caroline C W Klaver; Cornelia M van Duijn
Journal:  PLoS Genet       Date:  2012-05-03       Impact factor: 5.917

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  130 in total

Review 1.  Genes, pathways, and animal models in primary open-angle glaucoma.

Authors:  A I Iglesias; H Springelkamp; W D Ramdas; C C W Klaver; R Willemsen; C M van Duijn
Journal:  Eye (Lond)       Date:  2015-08-28       Impact factor: 3.775

2.  Genetic Evidence for Differential Regulation of Corneal Epithelial and Stromal Thickness.

Authors:  Demelza R Koehn; Kacie J Meyer; Michael G Anderson
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-08       Impact factor: 4.799

3.  Clinical and genetic characterization of a large primary open angle glaucoma pedigree.

Authors:  Mohideen Abdul Kader; Prasanthi Namburi; Sarika Ramugade; R Ramakrishnan; Subbiah R Krishnadas; Ben R Roos; Sundaresan Periasamy; Alan L Robin; John H Fingert
Journal:  Ophthalmic Genet       Date:  2016-06-29       Impact factor: 1.803

4.  Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent.

Authors:  Jane Z Kuo; Linda M Zangwill; Felipe A Medeiros; Jeffery M Liebmann; Christopher A Girkin; Na'ama Hammel; Jerome I Rotter; Robert N Weinreb
Journal:  Am J Ophthalmol       Date:  2015-04-04       Impact factor: 5.258

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7.  Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Authors:  Henriët Springelkamp; Aniket Mishra; Pirro G Hysi; Puya Gharahkhani; René Höhn; Chiea-Chuen Khor; Jessica N Cooke Bailey; Xiaoyan Luo; Wishal D Ramdas; Eranga Vithana; Victor Koh; Seyhan Yazar; Liang Xu; Hannah Forward; Lisa S Kearns; Najaf Amin; Adriana I Iglesias; Kar-Seng Sim; Elisabeth M van Leeuwen; Ayse Demirkan; Sven van der Lee; Seng-Chee Loon; Fernando Rivadeneira; Abhishek Nag; Paul G Sanfilippo; Arne Schillert; Paulus T V M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Tiger Zhou; Kathryn P Burdon; Timothy D Spector; Karl J Lackner; Seang-Mei Saw; Johannes R Vingerling; Yik-Ying Teo; Louis R Pasquale; Roger C W Wolfs; Hans G Lemij; E-Shyong Tai; Jost B Jonas; Ching-Yu Cheng; Tin Aung; Nomdo M Jansonius; Caroline C W Klaver; Jamie E Craig; Terri L Young; Jonathan L Haines; Stuart MacGregor; David A Mackey; Norbert Pfeiffer; Tien-Yin Wong; Janey L Wiggs; Alex W Hewitt; Cornelia M van Duijn; Christopher J Hammond
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8.  Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.

Authors:  Xiaohui Li; Yelena Bykhovskaya; Ana Laura Caiado Canedo; Talin Haritunians; David Siscovick; Anthony J Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Jerome I Rotter; Kent D Taylor; Yaron S Rabinowitz
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9.  Biomechanical characterization of keratoconus corneas ex vivo with Brillouin microscopy.

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10.  Developments in Ocular Genetics: 2013 Annual Review.

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