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To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E−8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E−07), TOX (rs7823467, P = 3.47E−07) and LINC00340 (rs12212674, P = 1.49E−06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = −0.59, P = 2.10E−04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium / Li, Q; Wojciechowski, R; Simpson, Cl; Hysi, Pg; Verhoeven, Vj; Ikram, Mk; Höhn, R; Vitart, V; Hewitt, Aw; Oexle, K; Mäkelä, Km; Macgregor, S; Pirastu, M; Fan, Q; Cheng, Cy; St Pourcain, B; Mcmahon, G; Kemp, Jp; Northstone, K; Rahi, Js; Cumberland, Pm; Martin, Ng; Sanfilippo, Pg; Lu, Y; Wang, Yx; Hayward, C; Polašek, O; Campbell, H; Bencic, G; Wright, Af; Wedenoja, J; Zeller, T; Schillert, A; Mirshahi, A; Lackner, K; Yip, Sp; Yap, Mk; Ried, Js; Gieger, C; Murgia, F; Wilson, Jf; Fleck, B; Yazar, S; Vingerling, Jr; Hofman, A; Uitterlinden, A; Rivadeneira, F; Amin, N; Karssen, L; Oostra, Ba; Zhou, X; Teo, Yy; Tai, Es; Vithana, E; Barathi, V; Zheng, Y; Siantar, Rg; Neelam, K; Shin, Y; Lam, J; Yonova Doing, E; Venturini, C; Hosseini, Sm; Wong, Hs; Lehtimäki, T; Kähönen, M; Raitakari, O; Timpson, Nj; Evans, Dm; Khor, Cc; Aung, T; Young, Tl; Mitchell, P; Klein, B; van Duijn, Cm; Meitinger, T; Jonas, Jb; Baird, Pn; Mackey, Da; Wong, Ty; Saw, Sm; Pärssinen, O; Stambolian, D; Hammond, Cj; Klaver, Cc; Williams, C; Paterson, Ad; Bailey Wilson, Je; Guggenheim, Ja; The CREAM Consortium Meguro A, CREAM C. o. n. s. o. r. t. i. u. m.; Wright, Af; Hewitt, Aw; Young, Al; Veluchamy, Ab; Metspalu, A; Paterson, Ad; Döring, A; Khawaja, Ap; Klein, Be; Pourcain, Bs; Oostra, Ba; Fleck, B; Klaver, Cc; Hayward, C; Williams, C; Delcourt, C; Maubaret, C; Pang, Cp; Khor, Cc; Cheng, Cy; Gieger, C; Hammond, Cj; Simpson, Cl; van Duijn, Cm; Ho, Dw; Mackey, Da; Evans, Dm; Stambolian, D; Chew, E; Tai, Es; Mihailov, E; Murgia, F; Smith, Gd; Mcmahon, G; Biino, G; Campbell, H; Rudan, I; Seppala, I; Kaprio, J; Wilson, Jf; Craig, Je; Polling, Jr; Ried, Js; Tideman, Jw; Guggenheim, Ja; Fondran, Jr; Wang, Jj; Liao, J; Zhao, Jh; Xie, J; Wilson, Je; Kemp, Jp; Jonas, Jb; Rahi, Js; Wedenoja, J; Mäkelä, Km; Burdon, Kp; Khaw, Kt; Yamashiro, K; Oexle, K; Portas, L; Farrer, L; Raffel, Lj; Chen, Lj; Xu, L; Ikram, M; Deangelis, Mm; Morrison, M; Schache, M; Pirastu, M; Cotch, Mf; Miyake, M; Yap, Mk; Fossarello, Maurizio; Kähönen, M; He, M; Yoshimura, N; Martin, Ng; Timpson, Nj; Wareham, Nj; Mizuki, N; Pfeiffer, N; Pärssinen, O; Raitakari, O; Polasek, O; Tam, Po; Foster, Pj; Mitchell, P; Baird, Pn; Chen, P; Hysi, Pg; Gharahkhani, P; Fan, Q; Höhn, R; Fogarty, Rd; Luben, Rn; Igo RP, Jr; Wojciechowski, R; Klein, R; Hosseini, S; Janmahasatian, S; Saw, Sm; Yazar, S; Yip, Sp; Feng, S; Panda Jonas, S; Macgregor, S; Iyengar, Sk; Lass, Jh; Rantanen, T; Lehtimäki, T; Young, Tl; Meitinger, T; Wong, Ty; Aung, T; Haller, T; Vitart, V; Nangia, V; Verhoeven, Vj; Jhanji, V; Chen, W; Zhou, X; Guo, X; Li, X; Wang, Yx; Lu, Y; Teo, Yy; Vatavuk, Z.. - In: HUMAN GENETICS. - ISSN 0340-6717. - 134:2(2015), pp. 131-146.

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