A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Tekijät: Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Hohn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, St Pourcain B, Simpson CL, Makela KM, Lehtimaki T, Kahonen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Parssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li RY, Liao JM, Zheng YF, Ong RT, Doring A, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Igo RP, Lass JH, Chew E, Iyengar SK, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Muller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra B, Amin N, Bergen AAB, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ
Kustantaja: NATURE PUBLISHING GROUP
Julkaisuvuosi: 2013
Journal: Nature Genetics
Tietokannassa oleva lehden nimi: NATURE GENETICS
Lehden akronyymi: NAT GENET
Numero sarjassa: 3
Vuosikerta: 45
Numero: 3
Aloitussivu: 314
Lopetussivu: 318
Sivujen määrä: 5
ISSN: 1061-4036
DOI: https://doi.org/10.1038/ng.2554
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.
