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

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; 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)

doi:10.1038/ncomms11008

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

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 VenturiniMasahiro 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)

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Abstract

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.

Original language	English
Article number	11008
Journal	Nature Communications
Volume	7
DOIs	https://doi.org/10.1038/ncomms11008
Publication status	Published - 6 Apr 2016

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Fan, Q., Verhoeven, V. J. M., 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., ... Consortium for Refractive Error and Myopia (CREAM) (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications, 7, Article 11008. https://doi.org/10.1038/ncomms11008

@article{c9897ab376454cd2b327fd3a0b2c2bcf,

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

abstract = "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.",

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

year = "2016",

month = apr,

day = "6",

doi = "10.1038/ncomms11008",

language = "English",

volume = "7",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

}

Fan, Q, Verhoeven, VJM, Wojciechowski, R, Barathi, VA, Hysi, PG, Guggenheim, JA, Höhn, R, Vitart, V, Khawaja, AP, Yamashiro, K, Hosseini, SM, Lehtimäki, T, Lu, Y, Haller, T, Xie, J, Delcourt, C, Pirastu, M, Wedenoja, J, Gharahkhani, P, Venturini, C, Miyake, M, Hewitt, AW, Guo, X, Mazur, J, Huffman, JE, Williams, K, Polasek, O, Campbell, H, Rudan, I, Vatavuk, Z, Wilson, JF, Joshi, PK, McMahon, G, St Pourcain, B, Evans, DM, Simpson, CL, Schwantes-An, T-H, Igo, RP, Mirshahi, A, Cougnard-Gregoire, A, Bellenguez, C, Blettner, M, Raitakari, O, Kähönen, M, Seppala, I, Zeller, T, Meitinger, T, Zhou, L, Mitchell, P , Hammond, CJ & Consortium for Refractive Error and Myopia (CREAM) 2016, 'Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error', Nature Communications, vol. 7, 11008. https://doi.org/10.1038/ncomms11008

TY - JOUR

T1 - Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

AU - Fan, Qiao

AU - Verhoeven, Virginie J M

AU - Wojciechowski, Robert

AU - Barathi, Veluchamy A

AU - Hysi, Pirro G

AU - Guggenheim, Jeremy A

AU - Höhn, René

AU - Vitart, Veronique

AU - Khawaja, Anthony P

AU - Yamashiro, Kenji

AU - Hosseini, S Mohsen

AU - Lehtimäki, Terho

AU - Lu, Yi

AU - Haller, Toomas

AU - Xie, Jing

AU - Delcourt, Cécile

AU - Pirastu, Mario

AU - Wedenoja, Juho

AU - Gharahkhani, Puya

AU - Venturini, Cristina

AU - Miyake, Masahiro

AU - Hewitt, Alex W

AU - Guo, Xiaobo

AU - Mazur, Johanna

AU - Huffman, Jenifer E

AU - Williams, Katherine

AU - Polasek, Ozren

AU - Campbell, Harry

AU - Rudan, Igor

AU - Vatavuk, Zoran

AU - Wilson, James F

AU - Joshi, Peter K

AU - McMahon, George

AU - St Pourcain, Beate

AU - Evans, David M

AU - Simpson, Claire L

AU - Schwantes-An, Tae-Hwi

AU - Igo, Robert P

AU - Mirshahi, Alireza

AU - Cougnard-Gregoire, Audrey

AU - Bellenguez, Céline

AU - Blettner, Maria

AU - Raitakari, Olli

AU - Kähönen, Mika

AU - Seppala, Ilkka

AU - Zeller, Tanja

AU - Meitinger, Thomas

AU - Zhou, Lei

AU - Mitchell, Paul

AU - Hammond, Christopher J

AU - Consortium for Refractive Error and Myopia (CREAM)

PY - 2016/4/6

Y1 - 2016/4/6

N2 - 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.

AB - 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.

U2 - 10.1038/ncomms11008

DO - 10.1038/ncomms11008

M3 - Article

C2 - 27020472

SN - 2041-1723

VL - 7

JO - Nature Communications

JF - Nature Communications

M1 - 11008

ER -

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

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