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

Fan, Qiao, Consortium for Refractive Error and Myopia (CREAM), Verhoeven, Virginie J. M., Wojciechowski, Robert, Barathi, Veluchamy A., Hysi, Pirro G., Guggenheim, Jeremy A. ORCID:, Höhn, Rene, Vitart, Veronique, Khawaja, Anthony P., Yamashiro, Kenji, Hosseini, S. Mohsen, Lehtimäki, Terho, Lu, Yi, Haller, Toomas, Xie, Jing, Delcourt, Cécile, Pirastu, Mario, Wedenoja, Juho, Gharahkhani, Puya, Venturini, Cristina, Miyake, Masahiro, Hewitt, Alex W., Guo, Xiaobo, Mazur, Johanna, Huffman, Jenifer E., Williams, Katie M., Polasek, Ozren, Campbell, Harry, Rudan, Igor, Vatavuk, Zoran, Wilson, James F., Joshi, Peter K., McMahon, George, St Pourcain, Beate, Evans, David M., Simpson, Claire L., Schwantes-An, Tae-Hwi, Igo, Robert P., Mirshahi, Alireza, Cougnard-Gregoire, Audrey, Bellenguez, Céline, Blettner, Maria, Raitakari, Olli, Kähönen, Mika, Seppala, Ilkka, Zeller, Tanja, Meitinger, Thomas, Ried, Janina S., Gieger, Christian, Portas, Laura, van Leeuwen, Elisabeth M., Amin, Najaf, Uitterlinden, André G., Rivadeneira, Fernando, Hofman, Albert, Vingerling, Johannes R., Wang, Ya Xing, Wang, Xu, Tai-Hui Boh, Eileen, Ikram, M. Kamran, Sabanayagam, Charumathi, Gupta, Preeti, Tan, Vincent, Zhou, Lei, Ho, Candice E. H., Lim, Wan'e, Beuerman, Roger W., Siantar, Rosalynn, Tai, E-Shyong, Vithana, Eranga, Mihailov, Evelin, Khor, Chiea-Chuen, Hayward, Caroline, Luben, Robert N., Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Wong, Hoi-Suen, Mitchell, Paul, Metspalu, Andres, Aung, Tin, Young, Terri L., He, Mingguang, Pärssinen, Olavi, van Duijn, Cornelia M., Jin Wang, Jie, Williams, Cathy, Jonas, Jost B., Teo, Yik-Ying, Mackey, David A., Oexle, Konrad, Yoshimura, Nagahisa, Paterson, Andrew D., Pfeiffer, Norbert, Wong, Tien-Yin, Baird, Paul N., Stambolian, Dwight, Wilson, Joan E. Bailey, Cheng, Ching-Yu, Hammond, Christopher J., Klaver, Caroline C. W. and Saw, Seang-Mei 2016. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications 7 , 11008. 10.1038/ncomms11008

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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 singlenucleotide polymorphism (SNP) main effects and SNP x 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Advanced Research Computing @ Cardiff (ARCCA)
Optometry and Vision Sciences
Subjects: R Medicine > RE Ophthalmology
Additional Information: Consortium for Refractive Error and Myopia (CREAM) This work is licensed under a Creative Commons Attribution 4.0 International License
Publisher: Nature Research
ISSN: 2041-1723
Funders: Wellcome Trust
Date of First Compliant Deposit: 30 March 2016
Date of Acceptance: 10 February 2016
Last Modified: 05 May 2023 17:27

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