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Verhoeven, V.J.M.* ; Hysi, P.G.* ; Saw, S.-M.* ; Vitart, V.* ; Mirshahi, A.* ; Guggenheim, J.A.* ; Cotch, M.F.* ; Yamashiro, K.* ; Baird, P.N.* ; Mackey, D.A.* ; Wojciechowski, R.* ; Ikram, M.K.* ; Hewitt, A.W.* ; Duggal, P.* ; Janmahasatian, S.* ; Khor, C.-C.* ; Fan, Q.* ; Zhou, X.* ; Young, T.L.* ; Tai, E.-S.* ; Goh, L.-K.* ; Li, Y.-J.* ; Aung, T.* ; Vithana, E.* ; Teo, Y.-Y.* ; Tay, W.* ; Sim, X.* ; Rudan, I.* ; Hayward, C.* ; Wright, A.F.* ; Polasek, O.* ; Campbell, H.* ; Wilson, J.F.* ; Fleck, B.W.* ; Nakata, I.* ; Yoshimura, N.* ; Yamada, R.* ; Matsuda, F.* ; Ohno-Matsui, K.* ; Nag, A.* ; McMahon, G.* ; St Pourcain, B.* ; Lu, Y.* ; Rahi, J.S.* ; Cumberland, P.M.* ; Bhattacharya, S.* ; Simpson, C.L.* ; Atwood, L.D.* ; Li, X.H.* ; Raffel, L.J.* ; Murgia, F.* ; Portas, L.* ; Despriet, D.D.G.* ; van Koolwijk, L.M.E.* ; Wolfram, C.* ; Lackner, K.J.* ; Tönjes, A.* ; Mägi, R.* ; Lehtimäki, T.* ; Kähönen, M.* ; Esko, T.* ; Metspalu, A.* ; Rantanen, T.* ; Pärssinen, O.* ; Klein, B.E.* ; Meitinger, T. ; Spector, T.D.* ; Oostra, B.A.* ; Smith, A.V.* ; de Jong, P.T.V.M.* ; Hofman, A.* ; Amin, N.* ; Karssen, L.C.* ; Rivadeneira, F.* ; Vingerling, J.R.* ; Eiriksdottir, G.* ; Gudnason, V.* ; Döring, A. ; Bettecken, T.* ; Uitterlinden, A.G.* ; Williams, C.* ; Zeller, T.* ; Castagné, R.* ; Oexle, K.* ; van Duijn, C.M.* ; Iyengar, S.K.* ; Mitchell, P.* ; Wang, J.J.* ; Höhn, R.* ; Pfeiffer, N.* ; Bailey-Wilson, J.E.* ; Stambolian, D.* ; Wong, T.-Y.* ; Hammond, C.J.* ; Klaver, C.C.W.*

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Hum. Genet. 131, 1467-1480 (2012)
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Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 x 10(-12) for SNP rs634990 in Caucasians, and 9.65 x 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 x 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 x 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-Wide Association; Refractive Error; Pathological Complications; Susceptibility Locus; Outdoor Activity; Common Variants; Children; Connexin36; Prevalence; Population
Language english
Publication Year 2012
HGF-reported in Year 2012
ISSN (print) / ISBN 0340-6717
e-ISSN 1432-1203
Journal Human Genetics
Quellenangaben Volume: 131, Issue: 9, Pages: 1467-1480 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
POF-Topic(s) 30202 - Environmental Health
30503 - Chronic Diseases of the Lung and Allergies
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504000-002
G-503900-001
G-500700-001
PubMed ID 22665138
DOI 10.1007/s00439-012-1176-0
WOS ID WOS:000307515600006
Scopus ID 84866729828
Erfassungsdatum 2012-09-21
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