PubMed ID:
24144296
Public Release Type:
Journal
Publication Year: 2013
Affiliation: Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore; Centre for Quantitative Medicine, Office of Clinical Sciences, Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore.
DOI:
https://doi.org/10.1016/j.ajhg.2013.06.016
Authors:
Lee J,
Zhou X,
Zhou X,
Zhou X,
Zhou X,
Zhou X,
Zhou X,
Zhou X,
Zhou X,
Brown M,
Herman WH,
Zhang L,
Adkins T,
Agarwal A,
Aiello LP,
Albers J,
Aldave A,
Alfonso E,
Amin N,
Angus E,
Ang W,
Arrigg P,
Aung T,
Ayres B,
Backlund J,
Bailey Wilson JE,
Bailey Wilson JE,
Bailey Wilson JE,
Bailey-Wilson JE,
Baird PN,
Baird PN,
Baird PN,
Baker L,
Band G,
Bantle J,
Barathi VA,
Baratz K,
Bardenstein D,
Barnie A,
Barroso I,
Barroso I,
Bayless M,
Beaser R,
Becker D,
Belin MW,
Bellenguez C,
Bencic G,
Bergenstal R,
Bergren RL,
Bernal ML,
Bettecken T,
Biino G,
Blackburn H,
Blackwell JM,
Blackwell JM,
Blevins A,
Blinder K,
Bluemke D,
Boniuk,
Boniuk I,
Borecki I,
Boright A,
Boulton AE,
Bourne PA,
Bourne W,
Bowman W,
Brabham M,
Brabham M,
Bracey M,
Braffett B,
Bramon E,
Brandle M,
Braunstein S,
Brent M,
Brillon D,
Brown-Friday J,
Brown MA,
Brown MA,
Brucker A,
Brunzell J,
Bryer-Ash M,
Bucksa J,
Budoff M,
Bull S,
Bumpstead SJ,
Burdon KP,
Burdon KP,
Burger M,
Burgess,
Burrows AF,
Burzuk B,
Cagliero E,
Campbell C,
Campbell H,
Campbell H,
Canady JL,
Canny C,
Carey JD,
Carter R,
Casas JP,
Catton S,
Caudill J,
Caulder S,
Cavanaugh HD,
Chahal H,
Chan K,
Chan R,
Chapin JE,
Chaum E,
Chavers B,
Cheng CY,
Cheng CY,
Cheng CY,
Cheng CY,
Cheng CY,
Cheng CY,
Cheng CY,
Chen LJ,
Chen P,
Chen P,
Chen W,
Chen Z,
Chew E,
Chew E,
Chew EY,
Chew M,
Chin H,
Chodosh J,
Clark C,
Cleary P,
Cochrane A,
Cohen E,
Colby K,
Colwell J,
Comer G,
Conrad PW,
Consortium for Refractive Error and Myopia,
Cornfeld D,
Corvin A,
Corvin A,
Counts D,
Cowie C,
Craig JE,
Craig JE,
Crandall J,
Croasdale C,
Crofford O,
Crowell S,
Crow R,
Cupelli E,
Dagogo-Jack S,
D'Agostino R,
Dahms W,
Dahms W,
Danis R,
Davey-Smith G,
Davis EA,
Davis M,
Deangelis MM,
de Boer IH,
Deeb S,
de Jong PT,
Delcourt C,
Deloukas P,
Deloukas P,
Determan A,
Detrano R,
Devenyi R,
Dews L,
Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group,
Diminick L,
Dingledine J,
Distad J,
Djalilian A,
Doft B,
Donnelly P,
Donnelly P,
Donner T,
Drash A,
Driscoll M,
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Dupps BJ,
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Evans DM,
Fahmy A,
Fan Q,
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Feng S,
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Forward H,
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Fuchs' Genetics Multi-Center Study Group,
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Hubbard L,
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Iannacone A,
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Igo RP Jr,
Igo RP Jr,
Igo RP Jr,
Ikram MK,
Inoko H,
Iyengar SK,
Iyengar SK,
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Iyer MN,
Jacobson A,
Jaffa A,
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Jampol L,
Jankowski J,
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Jarboe R,
Jayakumar A,
Jenkins A,
Johnsonbaugh S,
Johnson M,
Jonas JB,
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Jones B,
Jones JK,
Joseph DD,
Jurkunas U,
Kahonen M,
Kähönen M,
Kaminski L,
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Langford C,
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Lass JH Jr,
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Lee K,
Lee T,
Lee WB,
Lee Y,
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Lehtimäki T,
Levandoski L,
Liao J,
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Markus HS,
Martin CL,
Martinez H,
Maschak-Carey BJ,
Mathew CG,
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Matsuda F,
Maubaret C,
Mayer L,
Mayfield R,
Mayfield RK,
May M,
Maynard J,
McCann OT,
McCulley J,
McGee D,
McLellan M,
McMahon G,
Meekins G,
Meguro A,
Meguro A,
Meisler DM,
Meitinger T,
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Metspalu A,
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Meyer D,
Mian S,
Miao C,
Miao F,
Mifflin M,
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Miller D,
Mirshahi A,
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Studies:
Diabetes Control and Complications Trial
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.