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Title: Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error : the CREAM consortium
Authors: Li, Q
Wojciechowski, R
Simpson, CL
Hysi, PG
Verhoeven, VJM
Ikram, MK
Hohn, R
Vitart, V
Hewitt, AW
Oexle, K
Makela, 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
Polasek, O
Campbell, H
Bencic, G
Wright, AF
Wedenoja, J
Zeller, T
Schillert, A
Mirshahi, A
Lackner, K
Yip, SP 
Yap, MKH 
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, YF
Siantar, RG
Neelam, K
Shin, YC
Lam, J
Yonova-Doing, E
Venturini, C
Hosseini, SM
Wong, HS
Lehtimaki, T
Kahonen, 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
Parssinen, O
Stambolian, D
Hammond, CJ
Klaver, CCW
Williams, C
Paterson, AD
Bailey-Wilson, JE
Guggenheim, JA
Issue Date: 2015
Publisher: Springer
Source: Human genetics, 2015, v. 134, no. 2, p. 131-146 How to cite?
Journal: Human genetics 
Abstract: 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.
ISSN: 0340-6717 (print)
1432-1203 (online)
DOI: 10.1007/s00439-014-1500-y
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