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Simpson, C.L.* ; Wojciechowski, R.* ; Oexle, K.* ; Murgia, F.* ; Portas, L.* ; Li, X.* ; Verhoeven, V.J.M.* ; Vitart, V.* ; Schache, M.* ; Hosseini, S.M.* ; Hysi, P.G.* ; Raffel, L.J.* ; Cotch, M.F.* ; Chew, E.* ; Klein, B.E.K.* ; Klein, R.* ; Wong, T.Y.* ; van Duijn, C.M.* ; Mitchell, P.* ; Saw, S.M.* ; Fossarello, M.* ; Wang, J.J.* ; DCCT/EDIC Research Group (*) ; Polasek, O.* ; Campbell, H.* ; Rudan, I.* ; Oostra, B.A.* ; Uitterlinden, A.G.* ; Hofman, A.* ; Rivadeneira, F.* ; Amin, N.* ; Karssen, L.C.* ; Vingerling, J.R.* ; Döring, A. ; Bettecken, T. ; Bencic, G.* ; Gieger, C. ; Wichmann, H.-E. ; Wilson, J.F.* ; Venturini, C.* ; Fleck, B.* ; Cumberland, P.M.* ; Rahi, J.S.* ; Hammond, C.J.* ; Hayward, C.* ; Wright, A.F.* ; Paterson, A.D.* ; Baird, P.N.* ; Klaver, C.C.* ; Rotter, J.I.* ; Pirastu, M.* ; Meitinger, T. ; Bailey-Wilson, J.E.*

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

PLoS ONE 9:e107110 (2014)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10-8), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10-11) and 8q12 (minimum p value 1.82×10-11) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Retinal-pigment Epithelium; Australian School-children; Refractive Error; Linkage-disequilibrium; Familial Aggregation; Association Scans; Outdoor Activity; Common Variants; Multiple; Gene
Sprache englisch
Veröffentlichungsjahr 2014
HGF-Berichtsjahr 2014
ISSN (print) / ISBN 1932-6203
Zeitschrift PLoS ONE
Quellenangaben Band: 9, Heft: 9, Seiten: , Artikelnummer: e107110 Supplement: ,
Verlag Public Library of Science (PLoS)
Verlagsort Lawrence, Kan.
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30503 - Chronic Diseases of the Lung and Allergies
30202 - Environmental Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504100-001
G-500700-001
G-503900-001
G-504000-002
G-504090-001
PubMed ID 25233373
DOI 10.1371/journal.pone.0107110
WOS ID WOS:000342921200013
Scopus ID 84907225028
Erfassungsdatum 2014-09-20
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