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Am J Hum Genet. 2013 Aug 8;93(2):264-77. doi: 10.1016/j.ajhg.2013.06.016.

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Collaborators (656)

Rahi JS, Hysi PG, Yoshimura N, Yamashiro K, Miyake M, Delcourt C, Maubaret C, Williams C, Guggenheim JA, Northstone K, Ring SM, Davey-Smith G, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Igo RP Jr, Chew E, Janmahasathian S, Iyengar SK, Igo RP Jr, Chew E, Janmahasathian S, Stambolian D, Bailey Wilson JE, MacGregor S, Lu Y, Jonas JB, Xu L, Saw SM, Baird PN, Rochtchina E, Mitchell P, Wang JJ, Jonas JB, Nangia V, Hayward C, Wright AF, Vitart V, Polasek O, Campbell H, Vitart V, Rudan I, Vatavuk Z, Vitart V, Paterson AD, Mohsen Hosseini S, Iyengar SK, Igo RP Jr, Fondran JR, Young TL, Feng S, Verhoeven VJ, Klaver CC, van Duijn CM, Metspalu A, Haller T, Mihailov E, Pärssinen O, Wedenoja J, Bailey Wilson JE, Wojciechowski R, Baird PN, Schache M, Pfeiffer N, Höhn R, Pang CP, Chen P, Meitinger T, Oexle K, Wegner A, Yoshimura N, Yamashiro K, Miyake M, Pärssinen O, Yip SP, Ho DW, Pirastu M, Murgia F, Portas L, Biino G, Wilson JF, Fleck B, Vitart V, Stambolian D, Bailey Wilson JE, Hewitt AW, Ang W, Verhoeven VJ, Klaver CC, van Duijn CM, Saw SM, Wong TY, Teo YY, Fan Q, Cheng CY, Zhou X, Kamran Ikram M, Saw SM, Teo YY, Fan Q, Cheng CY, Zhou X, Kamran Ikram M, Saw SM, Wong TY, Teo YY, Fan Q, Cheng CY, Zhou X, Kamran Ikram M, Saw SM, Wong TY, Teo YY, Fan Q, Cheng CY, Zhou X, Kamran Ikram M, Saw SM, Tai ES, Teo YY, Fan Q, Cheng CY, Zhou X, Kamran Ikram M, Saw SM, Teo YY, Fan Q, Cheng CY, Zhou X, Kamran Ikram M, Mackey DA, MacGregor S, Hammond CJ, Hysi PG, Deangelis MM, Morrison M, Zhou X, Chen W, Paterson AD, Mohsen Hosseini S, Mizuki N, Meguro A, Lehtimäki T, Mäkelä KM, Raitakari O, Kähönen M, Reinhart W, Belin MW, Schultze RL, Morason T, Sugar A, Mian S, Soong HK, Colby K, Jurkunas U, Yee R, Vital M, Alfonso E, Karp C, Lee Y, Yoo S, Hammersmith K, Cohen E, Laibson P, Rapuano C, Ayres B, Croasdale C, Caudill J, Patel S, Baratz K, Bourne W, Maguire L, Sugar J, Tu E, Djalilian A, Mootha V, McCulley J, Bowman W, Cavanaugh HD, Verity S, Verdier D, Renucci A, Oliva M, Rotkis W, Hardten DR, Fahmy A, Brown M, Reeves S, Davis EA, Lindstrom R, Hauswirth S, Hamilton S, Lee WB, Price F, Price M, Kelly K, Peters F, Shaughnessy M, Steinemann T, Dupps BJ, Meisler DM, Mifflin M, Olson R, Aldave A, Holland G, Mondino BJ, Rosenwasser G, Gorovoy M, Dunn SP, Heidemann DG, Terry M, Shamie N, Rosenfeld SI, Suedekum B, Hwang D, Stone D, Chodosh J, Galentine PG, Bardenstein D, Goddard K, Chin H, Mannis M, Varma R, Borecki I, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Strange A, Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG, Blackwell JM, Brown MA, Corvin A, Spencer CC, Genuth S, Nathan DM, Zinman B, Crofford O, Crandall J, Reid M, Brown-Friday J, Engel S, Sheindlin J, Martinez H, Shamoon H, Engel H, Phillips M, Gubitosi-Klug R, Mayer L, Pendegast S, Zegarra H, Miller D, Singerman L, Smith-Brewer S, Novak M, Quin J, Dahms W, Genuth S, Palmert M, Brillon D, Lackaye ME, Kiss S, Chan R, Reppucci V, Lee T, Heinemann M, Whitehouse F, Kruger D, Jones JK, McLellan M, Carey JD, Angus E, Thomas A, Galprin A, Bergenstal R, Johnson M, Spencer M, Morgan K, Etzwiler D, Kendall D, Aiello LP, Golden E, Jacobson A, Beaser R, Ganda O, Hamdy O, Wolpert H, Sharuk G, Arrigg P, Schlossman D, Rosenzwieg J, Rand L, Nathan DM, Larkin M, Ong M, Godine J, Cagliero E, Lou P, Folino K, Fritz S, Crowell S, Hansen K, Gauthier-Kelly C, Service J, Ziegler G, Luttrell L, Caulder S, Lopes-Virella M, Colwell J, Soule J, Fernandes J, Hermayer K, Kwon S, Brabham M, Blevins A, Parker J, Lee D, Patel N, Pittman C, Lindsey P, Bracey M, Lee K, Nutaitis M, Farr A, Elsing S, Thompson T, Selby J, Lyons T, Yacoub-Wasef S, Szpiech M, Wood D, Mayfield R, Molitch M, Schaefer B, Jampol L, Lyon A, Gill M, Strugula Z, Kaminski L, Mirza R, Simjanoski E, Ryan D, Kolterman O, Lorenzi G, Goldbaum M, Sivitz W, Bayless M, Counts D, Johnsonbaugh S, Hebdon M, Salemi P, Liss R, Donner T, Gordon J, Hemady R, Kowarski A, Ostrowski D, Steidl S, Jones B, Herman WH, Martin CL, Pop-Busui R, Sarma A, Albers J, Feldman E, Kim K, Elner S, Comer G, Gardner T, Hackel R, Prusak R, Goings L, Smith A, Gothrup J, Titus P, Lee J, Brandle M, Prosser L, Greene DA, Stevens MJ, Vine AK, Bantle J, Wimmergren N, Cochrane A, Olsen T, Steuer E, Rath P, Rogness B, Hainsworth D, Goldstein D, Hitt S, Giangiacomo J, Schade DS, Canady JL, Chapin JE, Ketai C LH, Braunstein S, Bourne PA, Schwartz S, Brucker A, Maschak-Carey BJ, Baker L, Orchard T, Silvers N, Ryan C, Songer T, Doft B, Olson S, Bergren RL, Lobes L, Paczan Rath P, Becker D, Rubinstein D, Conrad PW, Yalamanchi S, Drash A, Morrison A, Bernal ML, Vaccaro-Kish J, Malone J, Pavan PR, Grove N, Iyer MN, Burrows AF, Tanaka EA, Gstalder R, Dagogo-Jack S, Wigley C, Ricks H, Kitabchi A, Murphy MB, Moser S, Meyer D, Iannacone A, Chaum E, Yoser S, Bryer-Ash M, Schussler S, Lambeth H, Raskin P, Strowig S, Zinman B, Barnie A, Devenyi R, Mandelcorn M, Brent M, Rogers S, Gordon A, Palmer J, Catton S, Brunzell J, Wessells H, de Boer IH, Hokanson J, Purnell J, Ginsberg J, Kinyoun J, Deeb S, Weiss M, Meekins G, Distad J, Van Ottingham L, Dupre J, Harth J, Nicolle D, Driscoll M, Mahon J, Canny C, May M, Lipps J, Agarwal A, Adkins T, Survant L, Pate RL, Munn GE, Lorenz R, Feman S, White N, Levandoski L, Boniuk I, Grand G, Thomas M, Joseph DD, Blinder K, Shah G, Boniuk, Burgess, Santiago J, Tamborlane W, Gatcomb P, Stoessel K, Taylor K, Goldstein J, Novella S, Mojibian H, Cornfeld D, Lima J, Bluemke D, Turkbey E, van der Geest RJ, Liu C, Malayeri A, Jain A, Miao C, Chahal H, Jarboe R, Maynard J, Gubitosi-Klug R, Quin J, Gaston P, Palmert M, Trail R, Dahms W, Lachin J, Cleary P, Backlund J, Sun W, Braffett B, Klumpp K, Chan K, Diminick L, Rosenberg D, Petty B, Determan A, Kenny D, Rutledge B, Younes N, Dews L, Hawkins M, Cowie C, Fradkin J, Siebert C, Eastman R, Danis R, Gangaputra S, Neill S, Davis M, Hubbard L, Wabers H, Burger M, Dingledine J, Gama V, Sussman R, Steffes M, Bucksa J, Nowicki M, Chavers B, O'Leary D, Polak J, Harrington A, Funk L, Crow R, Gloeb B, Thomas S, O'Donnell C, Soliman E, Zhang ZM, Prineas R, Campbell C, Ryan C, Sandstrom D, Williams T, Geckle M, Cupelli E, Thoma F, Burzuk B, Woodfill T, Low P, Sommer C, Nickander K, Budoff M, Detrano R, Wong N, Fox M, Kim L, Oudiz R, Weir G, Espeland M, Manolio T, Rand L, Singer D, Stern M, Boulton AE, Clark C, D'Agostino R, Lopes-Virella M, Garvey WT, Lyons TJ, Jenkins A, Virella G, Jaffa A, Carter R, Lackland D, Brabham M, McGee D, Zheng D, Mayfield RK, Boright A, Bull S, Sun L, Scherer S, Zinman B, Natarajan R, Miao F, Zhang L, Chen Z, Nathan DM.

Abstract

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.

PMID:
24144296
PMCID:
PMC3772747
DOI:
10.1016/j.ajhg.2013.06.016
[Indexed for MEDLINE]
Free PMC Article

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