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Li, Q.* ; Wojciechowski, R.* ; Simpson, C.L.* ; Hysi, P.G.* ; Verhoeven, V.J.* ; Ikram, M.K.* ; Höhn, R.* ; Vitart, V.* ; Hewitt, A.W.* ; Oexle, K.* ; Mäkelä, K.M.* ; MacGregor, S.* ; Pirastu, M.* ; Fan, Q.* ; Cheng, C.Y.* ; St. Pourcain, B.* ; McMahon, G.* ; Kemp, J.P.* ; Northstone, K.* ; Rahi, J.S.* ; Cumberland, P.M.* ; Martin, N.G.* ; Sanfilippo, P.G.* ; Lu, Y.* ; Wang, Y.X.* ; Hayward, C.* ; Polasek, O.* ; Campbell, H.* ; Bencic, G.* ; Wright, A.F.* ; Wedenoja, J.* ; Zeller, T.* ; Schillert, A.* ; Mirshahi, A.* ; Lackner, K.J.* ; Yip, S.P.* ; Yap, M.K.H.* ; Ried, J.S. ; Gieger, C. ; Murgia, F.* ; Wilson, J.F.* ; Fleck, B.* ; Yazar, S.* ; Vingerling, J.R.* ; Hofman, A.* ; Uitterlinden, A.* ; Rivadeneira, F.* ; Amin, N.* ; Karssen, L.C.* ; Oostra, B.A.* ; Zhou, X.* ; Teo, Y.Y.* ; Tai, E.S.* ; Vithana, E.* ; Barathi, V.A.* ; Zheng, Y.* ; Siantar, R.G.* ; Neelam, K.* ; Shin, Y.K.* ; Lam, J.S.Y.* ; Yonova-Doing, E.* ; Venturini, C.* ; Hosseini, S.M.* ; Wong, H.S.* ; Lehtimäki, T.* ; Kähönen, M.* ; Raitakari, O.* ; Timpson, N.J.* ; Evans, D.M* ; Khor, C.C.* ; Aung, T.* ; Young, T.L.* ; Mitchell, P.* ; Klein, B.* ; van Duijn, C.M.* ; Meitinger, T. ; Jonas, J.B.* ; Baird, P.N.* ; Mackey, D.A.* ; Wong, T.Y.* ; Saw, S.M.* ; Pärssinen, O.* ; Stambolian, D.* ; Hammond, C.J.* ; Klaver, C.C.* ; Williams, C.* ; Paterson, A.D.* ; Bailey-Wilson, J.E.* ; Guggenheim, J.A.*

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: The CREAM consortium.

Hum. Genet. 134, 131-146 (2015)
Publ. Version/Full Text DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Experimentally-induced Myopia; Open-angle Glaucoma; Blue Mountains Eye; Corneal Astigmatism; Susceptibility Loci; Noncoding Rnas; Major Locus; Population; Age; Disease
ISSN (print) / ISBN 0340-6717
e-ISSN 1432-1203
Journal Human Genetics
Quellenangaben Volume: 134, Issue: 2, Pages: 131-146 Article Number: , Supplement: ,
Publisher Springer
Publishing Place New York
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
Institute of Human Genetics (IHG)
Institute of Epidemiology II (EPI2)