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

Article scientifique 2016 Anglais

Résumé

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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Fan, Q., Verhoeven, V., Wojciechowski, R., Barathi, V., Hysi, P., Guggenheim, J., Höhn, R., Vitart, V., Khawaja, A., Yamashiro, K., Hosseini, S., Lehtimäki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P., Venturini, C., Miyake, M., Hewitt, A., Guo, X., Mazur, J., Huffman, J., Williams, K., Polašek, O., Campbell, H., Rudan, I., Vatavuk, Z., Wilson, J., Joshi, P., McMahon, G., Pourcain, B., Evans, D., Simpson, C., Schwantes-An, T., Igo, R., Mirshahi, A., Cougnard‐Grégoire, A., Bellenguez, C., Blettner, M., Raitakari, O., Kähönen, M., Seppälä, I., Zeller, T., Meitinger, T., Ried, J., Gieger, C., Portas, L., Amin, N., Uitterlinden, A., Rivadeneira, F., Hofman, A., Vingerling, J., Wang, Y., Wang, X., Boh, E., Ikram, M., Sabanayagam, C., Gupta, P., Tan, V., Zhou, L., Ho, C., Beuerman, R., Siantar, R., Tai, E., Vithana, E., Mihailov, E., Khor, C., Hayward, C., Luben, R., Foster, P., Klein, B., Klein, R., Wong, H., Mitchell, P., Metspalu, A., Aung, T., Young, T., He, M., Pärssinen, O., Duijn, C., Wang, J., Williams, C., Jonas, J., Teo, Y., Mackey, D., Oexle, K., Yoshimura, N., Paterson, A., Pfeiffer, N., Wong, T., Baird, P., Stambolian, D., Wilson, J., Cheng, C., Hammond, C. (2016). Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error. https://doi.org/10.1038/ncomms11008

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Auteur(s)

Qiao Fan Virginie J. M. Verhoeven Robert Wojciechowski Veluchamy A. Barathi Pirro G. Hysi Jeremy A. Guggenheim René Höhn Véronique 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 Masahiro Miyake Alex W. Hewitt Xiaobo Guo Johanna Mazur Jenifer E. Huffman Katie Williams Ozren Polašek Harry Campbell Igor Rudan Zoran Vatavuk James F. Wilson Peter K. Joshi George McMahon Beaté St Pourcain David M. Evans Claire L. Simpson Tae-Hwi Schwantes-An Robert P. Igo Alireza Mirshahi Audrey Cougnard‐Grégoire Céline Bellenguez Maria Blettner Olli T. Raitakari Mika Kähönen Ilkka Seppälä Tanja Zeller Thomas Meitinger Janina S. Ried Christian Gieger Laura Portas Najaf Amin André G. Uitterlinden Fernando Rivadeneira Albert Hofman Johannes R. Vingerling Ya Xing Wang Xu Wang Eileen Tai-hui Boh M. Kamran Ikram Charumathi Sabanayagam Preeti Gupta Vincent Y. F. Tan Lei Zhou Candice Ho Roger W. Beuerman Rosalynn Grace Siantar E Shyong Tai Eranga N. Vithana Evelin Mihailov Chiea Chuen Khor Caroline Hayward Robert Luben Paul J. Foster Barbara E.K. Klein Ronald Klein Hoi-Suen Wong Paul Mitchell Andres Metspalu Tin Aung Terri L. Young Mingguang He Olavi Pärssinen Cornelia M. van Duijn Jie Jin Wang Cathy Williams Jost B. Jonas Yik-Ying Teo David A. Mackey Konrad Oexle Nagahisa Yoshimura Andrew D. Paterson Norbert Pfeiffer Tien Yin Wong Paul N. Baird Dwight Stambolian Joan Wilson Ching‐Yu Cheng Christopher J. Hammond

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