| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. | |
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MedLine Citation:
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PMID: 23291589 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Yi Lu; 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 |
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Publication Detail:
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Type: Journal Article; Meta-Analysis Date: 2013-01-06 |
Journal Detail:
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Title: Nature genetics Volume: 45 ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2013 Feb |
Date Detail:
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Created Date: 2013-01-29 Completed Date: 2013-03-26 Revised Date: 2013-05-13 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 155-63 Citation Subset: IM |
Affiliation:
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Queensland Institute of Medical Research, Statistical Genetics, Herston, Brisbane, Queensland, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Asian Continental Ancestry Group
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genetics Cornea / anatomy & histology* Corneal Pachymetry European Continental Ancestry Group / genetics Fibronectins / genetics* Forkhead Transcription Factors / genetics* Genetic Loci / genetics* Genome-Wide Association Study Glaucoma / genetics Humans Keratoconus / genetics* Microarray Analysis Odds Ratio Real-Time Polymerase Chain Reaction |
| Grant Support | |
ID/Acronym/Agency:
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R01 EY018825/EY/NEI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FNDC3B protein, human; 0/FOXO1 protein, human; 0/Fibronectins; 0/Forkhead Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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