| Title: |
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error |
| Authors: |
Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error; Myopia, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control; Complications Trial/Epidemiology of Diabetes Interventions; Complications Research Group, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM, Baird PN. 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. |
| Source: |
American journal of human genetics (Online) 93 (2013): 264–277. doi:10.1016/j.ajhg.2013.06.016 ; info:cnr-pdr/source/autori:Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia, Burdon KP, Craig JE, .... |
| Publisher Information: |
University of Chicago Press for the American Society of Human Genetics, Chicago, Ill. , Stati Uniti d'America |
| Publication Year: |
2013 |
| Collection: |
PUMAlab (ISTI CNR - Consiglio Nazionale delle Ricerche / National Research Council) |
| Subject Terms: |
Ocular Axial Length; GWAS |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:cnr-pdr/author/matricola:8852/BIINO/GINEVRA; info:cnr-pdr/author/matricola:16239/PIRASTU/MARIO; http://www.cnr.it/prodotto/i/260631; https://publications.cnr.it/doc/260631; https://dx.doi.org/10.1016/j.ajhg.2013.06.016; info:doi:10.1016/j.ajhg.2013.06.016; http://www.sciencedirect.com/science/article/pii/S0002929713002851?np=y |
| DOI: |
10.1016/j.ajhg.2013.06.016 |
| Availability: |
http://www.cnr.it/prodotto/i/260631; https://publications.cnr.it/doc/260631; https://doi.org/10.1016/j.ajhg.2013.06.016; http://www.sciencedirect.com/science/article/pii/S0002929713002851?np=y |
| Rights: |
info:eu-repo/semantics/restrictedAccess |
| Accession Number: |
edsbas.7D2199FF |
| Database: |
BASE |