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

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Qiao Fan, Virginie J M Verhoeven, Robert Wojciechowski, Veluchamy A Barathi, Pirro G Hysi, Jeremy A Guggenheim, René Höhn, Veronique Vitart, Anthony P Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimäki, Yi Lu, Toomas Haller, Jing Xie, Cécile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini & 31 more Masahiro Miyake, Alex W Hewitt, Xiaobo Guo, Johanna Mazur, Jenifer E Huffman, Katherine Williams, Ozren Polasek, Harry Campbell, Igor Rudan, Zoran Vatavuk, James F Wilson, Peter K Joshi, George McMahon, Beate St Pourcain, David M Evans, Claire L Simpson, Tae-Hwi Schwantes-An, Robert P Igo, Alireza Mirshahi, Audrey Cougnard-Gregoire, Céline Bellenguez, Maria Blettner, Olli Raitakari, Mika Kähönen, Ilkka Seppala, Tanja Zeller, Thomas Meitinger, Lei Zhou, Paul Mitchell, Christopher J Hammond, Consortium for Refractive Error and Myopia (CREAM)

Original languageEnglish
Article number11008
JournalNature Communications
Accepted/In press10 Feb 2016
Published6 Apr 2016


  • ncomms11008

    ncomms11008.pdf, 757 KB, application/pdf

    Uploaded date:21 Apr 2016

    Version:Final published version

    Licence:CC BY

King's Authors


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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