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Fan, Q.* ; Verhoeven, V.J.* ; Wojciechowski, R.* ; Barathi, V.A.* ; Hysi, P.G.* ; Guggenheim, J.A.* ; Höhn, R.* ; Vitart, V.* ; Khawaja, A.P.* ; Yamashiro, K.* ; Hosseini, S.M.* ; Lehtimäki, T.* ; Lu, Y.* ; Haller, T.* ; Xie, J.* ; Delcourt, C.* ; Pirastu, M.* ; Wedenoja, J.* ; Gharahkhani, P.* ; Venturini, C.* ; Miyake, M.* ; Hewitt, A.W.* ; Guo, X.* ; Mazur, J.* ; Huffman, J.E.* ; Williams, K.M.* ; Polasek, O.* ; Campbell, H.* ; Rudan, I.* ; Vatavuk, Z.* ; Wilson, J.F.* ; Joshi, P.K.* ; McMahon, G.* ; St Pourcain, B.* ; Evans, D.M.* ; Simpson, C.L.* ; Schwantes-An, T.H.* ; Igo, R.P.* ; Mirshahi, A.* ; Cougnard-Grégoire, A.* ; Bellenguez, C.* ; Blettner, M.* ; Raitakari, O.* ; Kähönen, M.* ; Seppälä, I.* ; Zeller, T.* ; Meitinger, T. ; Consortium for Refractive Error and Myopia (CREAM) (Döring, A.) ; Ried, J.S. ; Gieger, C. ; Portas, L.* ; van Leeuwen, E.M.* ; Amin, N.* ; Uitterlinden, A.G.* ; Rivadeneira, F.* ; Hofman, A.* ; Vingerling, J.R.* ; Wang, Y.X.* ; Wang, X.* ; Tai-Hui Boh, E.* ; Ikram, M.K.* ; Sabanayagam, C.* ; Gupta, P.* ; Tan, V.* ; Zhou, L.* ; Ho, C.E.* ; Lim, W.Y.* ; Beuerman, R.W.* ; Siantar, R.G.* ; Tai, E.S.* ; Vithana, E.* ; Mihailov, E.* ; Khor, C.C.* ; Hayward, C.* ; Luben, R.N.* ; Foster, P.J.* ; Klein, B.E.* ; Klein, R.* ; Wong, H.S.* ; Mitchell, P.* ; Metspalu, A.* ; Aung, T.* ; Young, T.L.* ; He, M.* ; Pärssinen, O.* ; van Duijn, C.M.* ; Wang, J.J.* ; Williams, C.* ; Jonas, J.B.* ; Teo, Y.Y.* ; Mackey, D.A.* ; Oexle, K.* ; Yoshimura, N.* ; Paterson, A.D.* ; Pfeiffer, N.* ; Wong, T.Y.* ; Baird, P.N.* ; Stambolian, D.* ; Wilson, J.E.* ; Cheng, C.Y.* ; Hammond, C.J.* ; Klaver, C.C.* ; Saw, S.M.*

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Nat. Commun. 7:11008 (2016)
Publishers Version Supplement DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
as soon as is submitted to ZB.
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10(-5)), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Retinal-pigment Epithelium; Activated Protein-kinase; Risk-factors; Outdoor Activity; Incident Myopia; Time Outdoors; Variants; Eye; Population; Receptor
Reviewing status