Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. / Lu, Yi; Vitart, Veronique; Burdon, Kathryn P; Khor, Chiea Chuen; Bykhovskaya, Yelena; Mirshahi, Alireza; Hewitt, Alex W; Koehn, Demelza; Hysi, Pirro G; Ramdas, Wishal D; Zeller, Tanja; Vithana, Eranga N; Cornes, Belinda K; Tay, Wan-Ting; Tai, E Shyong; Cheng, Ching-Yu; Liu, Jianjun; Foo, Jia-Nee; Saw, Seang Mei; Thorleifsson, Gudmar; Stefansson, Kari; Dimasi, David P; Mills, Richard A; Mountain, Jenny; Ang, Wei; Hoehn, René; Verhoeven, Virginie J M; Grus, Franz; Wolfs, Roger; Castagne, Raphaële; Lackner, Karl J; Springelkamp, Henriët; Yang, Jian; Jonasson, Fridbert; Leung, Dexter Y L; Chen, Li J; Tham, Clement C Y; Rudan, Igor; Vatavuk, Zoran; Hayward, Caroline; Gibson, Jane; Cree, Angela J; MacLeod, Alex; Ennis, Sarah; Polasek, Ozren; Campbell, Harry; Wilson, James F; Viswanathan, Ananth C; Fleck, Brian; Li, Xiaohui; Siscovick, David; Taylor, Kent D; Rotter, Jerome I; Yazar, Seyhan; Ulmer, Megan; Li, Jun; Yaspan, Brian L; Ozel, Ayse B; Richards, Julia E; Moroi, Sayoko E; Haines, Jonathan L; Kang, Jae H; Pasquale, Louis R; Allingham, R Rand; Ashley-Koch, Allison; Mitchell, Paul; Wang, Jie Jin; Wright, Alan F; Pennell, Craig; Spector, Timothy D; Young, Terri L; Klaver, Caroline C W; Martin, Nicholas G; Montgomery, Grant W; Anderson, Michael G; Aung, Tin; Willoughby, Colin E; Wiggs, Janey L; Pang, Chi P; Thorsteinsdottir, Unnur; Lotery, Andrew J; Hammond, Christopher J; van Duijn, Cornelia M; Hauser, Michael A; Rabinowitz, Yaron S; Pfeiffer, Norbert; Mackey, David A; Craig, Jamie E; Macgregor, Stuart; Wong, Tien Y; NEIGHBOR Consortium.
In: NAT GENET, Vol. 45, No. 2, 02.2013, p. 155-163.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
AU - Lu, Yi
AU - Vitart, Veronique
AU - Burdon, Kathryn P
AU - Khor, Chiea Chuen
AU - Bykhovskaya, Yelena
AU - Mirshahi, Alireza
AU - Hewitt, Alex W
AU - Koehn, Demelza
AU - Hysi, Pirro G
AU - Ramdas, Wishal D
AU - Zeller, Tanja
AU - Vithana, Eranga N
AU - Cornes, Belinda K
AU - Tay, Wan-Ting
AU - Tai, E Shyong
AU - Cheng, Ching-Yu
AU - Liu, Jianjun
AU - Foo, Jia-Nee
AU - Saw, Seang Mei
AU - Thorleifsson, Gudmar
AU - Stefansson, Kari
AU - Dimasi, David P
AU - Mills, Richard A
AU - Mountain, Jenny
AU - Ang, Wei
AU - Hoehn, René
AU - Verhoeven, Virginie J M
AU - Grus, Franz
AU - Wolfs, Roger
AU - Castagne, Raphaële
AU - Lackner, Karl J
AU - Springelkamp, Henriët
AU - Yang, Jian
AU - Jonasson, Fridbert
AU - Leung, Dexter Y L
AU - Chen, Li J
AU - Tham, Clement C Y
AU - Rudan, Igor
AU - Vatavuk, Zoran
AU - Hayward, Caroline
AU - Gibson, Jane
AU - Cree, Angela J
AU - MacLeod, Alex
AU - Ennis, Sarah
AU - Polasek, Ozren
AU - Campbell, Harry
AU - Wilson, James F
AU - Viswanathan, Ananth C
AU - Fleck, Brian
AU - Li, Xiaohui
AU - Siscovick, David
AU - Taylor, Kent D
AU - Rotter, Jerome I
AU - Yazar, Seyhan
AU - Ulmer, Megan
AU - Li, Jun
AU - Yaspan, Brian L
AU - Ozel, Ayse B
AU - Richards, Julia E
AU - Moroi, Sayoko E
AU - Haines, Jonathan L
AU - Kang, Jae H
AU - Pasquale, Louis R
AU - Allingham, R Rand
AU - Ashley-Koch, Allison
AU - Mitchell, Paul
AU - Wang, Jie Jin
AU - Wright, Alan F
AU - Pennell, Craig
AU - Spector, Timothy D
AU - Young, Terri L
AU - Klaver, Caroline C W
AU - Martin, Nicholas G
AU - Montgomery, Grant W
AU - Anderson, Michael G
AU - Aung, Tin
AU - Willoughby, Colin E
AU - Wiggs, Janey L
AU - Pang, Chi P
AU - Thorsteinsdottir, Unnur
AU - Lotery, Andrew J
AU - Hammond, Christopher J
AU - van Duijn, Cornelia M
AU - Hauser, Michael A
AU - Rabinowitz, Yaron S
AU - Pfeiffer, Norbert
AU - Mackey, David A
AU - Craig, Jamie E
AU - Macgregor, Stuart
AU - Wong, Tien Y
AU - NEIGHBOR Consortium
PY - 2013/2
Y1 - 2013/2
N2 - 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.
AB - 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.
KW - Asian Continental Ancestry Group/genetics
KW - Cornea/anatomy & histology
KW - Corneal Pachymetry
KW - European Continental Ancestry Group/genetics
KW - Fibronectins/genetics
KW - Forkhead Box Protein O1
KW - Forkhead Transcription Factors/genetics
KW - Genetic Loci/genetics
KW - Genome-Wide Association Study
KW - Glaucoma/genetics
KW - Humans
KW - Keratoconus/genetics
KW - Microarray Analysis
KW - Odds Ratio
KW - Real-Time Polymerase Chain Reaction
U2 - 10.1038/ng.2506
DO - 10.1038/ng.2506
M3 - SCORING: Journal article
C2 - 23291589
VL - 45
SP - 155
EP - 163
JO - NAT GENET
JF - NAT GENET
SN - 1061-4036
IS - 2
ER -