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Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Collaborators (406)

Rahi JS, Hysi PG, Yoshimura N, Yamashiro K, Miyake M, Delcourt C, Maubaret C, Williams C, Guggenheim JA, Northstone K, Ring SM, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Igo RP Jr, Chew E, Janmahasathian S, Iyengar SK, Stambolian D, Wilson JE, MacGregor S, Lu Y, Jonas JB, Xu L, 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, Hosseini S, Iyengar SK, Fondran JR, Young TL, Feng S, Verhoeven VJ, Klaver CC, van Duijn CM, Metspalu A, Haller T, Mihailov E, Pärssinen O, Wilson JW, Wojciechowski R, Baird PN, Schache M, Pfeiffer N, Höhn R, Pang CP, Chen P, Meitinger T, Oexle K, Wegner A, Yoshimura N, Yamashiro K, Miyak M, Pärssinen O, Yip SP, Ho DW, Pirastu M, Murgia F, Portas L, Biino G, Wilson JF, Fleck B, Vitart V, Stambolian D, Wilson JE, Hewitt AW, Ang W, Verhoeven VJ, Klaver CC, van Duijn CM, Zhou X, Ikram M, Fan Q, Zhou X, Mackey M, MacGregor S, Hammond CJ, Hysi PG, Deangelis MM, Morrison M, Zhou X, Chen W, Paterson AD, Hosseini S, Mizuki N, Meguro A, Raitakari O, Kähönen M, 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, 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, Genuth S, Nathan DM, Zinman B, Crofford O, Crandall J, Reid M, Engel S, Sheindlin J, Martinez H, Shamoon H, Engel H, Phillips M, Mayer L, Pendegast S, Zegarra H, Miller D, Singerman L, 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 J, McLellan M, Carey JD, Angus E, Thomas A, Galprin A, Bergenstal R, Johnson M, Spencer M, Morgan K, Aiello LP, Golden E, Jacobson A, Beaser R, Ganda O, Hamdy O, Wolpert H, Sharuk G, Arrigg P, Schlossman D, Rosenzwieg J, Nathan DM, Larkin M, Ong M, Godine J, Cagliero E, Lou P, Folino K, Fritz S, Crowell S, Hansen K, Ziegler G, Luttrell L, Caulder S, 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, Thompson T, Selby J, Lyons T, Szpiech M, 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, 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, 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, Bantle J, Wimmergren N, Cochrane A, Olsen T, Steuer E, Rath P, Rogness B, Hainsworth D, Goldstein D, Hitt S, Giangiacomo J, Canady JL, Chapin JE, Braunstein S, Bourne PA, Schwartz S, Brucker A, Baker L, Iyengar SK, Lass J, Reinhart W, Belin MW, Schultze RL, Morason T, Sugar A, Mian S, Soong KH, Colby K, 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 H, 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 W, Price F, Price M, Kelly K, Peters F, Shaughnessy M, Steinemann T, Dupps B, 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, Davey-Smith G, Saw SM, Wong TY, Teo YY, Cheng CY, Lehtimäki T, Mäkelä KM, Brown-Friday J, Gubitosi-Klug R, Smith-Brewer S, Etzwiler D, Rand L, Gauthier-Kelly C, Service J, Lopes-Virella M, Elsing S, Yacoub-Wasef S, Wood D, Counts D, Pop-Busui R, Vine AK, Schade DS, Ketai C LH, Maschak-Carey BJ, Jurkunas U.

Erratum in

  • Nat Genet. 2013 Jun;45(2):712. Janmahasathian, Sarayut [corrected to Sarayut Janmahasatian].

Abstract

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.

PMID:
23396134
[PubMed - indexed for MEDLINE]
PMCID:
PMC3740568
Free PMC Article

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