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. Author manuscript; available in PMC: 2013 Sep 1.
Published in final edited form as: Nat Genet. 2013 Feb 10;45(3):314–318. doi: 10.1038/ng.2554

Table 1. Genome-wide significant hits for refractive error in the European ancestry population with results in Asian population and combined analysis.

Summary of SNPs that showed genome-wide significant (P<5×10-8) association with spherical equivalent (SE) in subjects of European ancestry (stage 1), with results of replication in Asians (stage 2) and combined analysis (stage 3). Previously reported genes are marked in grey. We tested for heterogeneous effects between the Asian and the European ancestry sample, for which P values are shown. Abbreviations: SNP, single nucleotide polymorphism; Nearest gene, reference NCBI build 37; A1, reference allele; A2, other allele, MA, Minor Allele; MAF, average Minor Allele Frequency; Beta, effect size on spherical equivalent in diopters based on allele A1; SEM, standard error of the mean.

Number of loci SNP Chromosome Position Nearest gene A1/A2 MAF Beta SEM P value MAF Beta SEM P value Beta SEM P value P value

Stage 1 (n = 37,382) Stage 2 (n = 8,376) Combined (n = 45,758) Heterogeneity
1 rs1652333 1 203858855 CD55 G/A 0.32 −0.115 0.018 6.29E-11 0.42 −0.099 0.035 5.00E-03 −0.112 0.016 3.05E-12 0.94
2 rs1656404 2 233205446 PRSS56 A/G 0.21 −0.151 0.025 2.38E-09 0.11 −0.167 0.069 1.60E-02 −0.153 0.024 7.86E-11 0.83
rs1881492 2 233406997 CHRNG T/G 0.22 −0.145 0.022 1.28E-10 0.15 −0.057 0.110 6.09E-01 −0.139 0.021 5.15E-11 0.88
3 rs14165 3 53847407 CACNA1D A/G 0.32 0.095 0.017 4.36E-08 0.12 0.120 0.100 2.29E-01 0.096 0.017 2.14E-08 0.25
4 rs1960445 4 81930813 BMP3 C/T 0.17 −0.147 0.026 1.19E-08 0.11 0.034 0.055 5.32E-01 −0.114 0.024 1.25E-06 0.31
5 rs12205363 6 129834628 LAMA2 C/T 0.10 0.228 0.034 1.13E-11 0.02 0.553 0.236 1.92E-02 0.235 0.033 1.79E-12 0.93
6 rs4237036 8 61701056 CHD7 C/T 0.35 0.097 0.017 1.52E-08 0.23 0.043 0.040 2.81E-01 0.089 0.016 1.82E-08 0.76
rs7837791 8 60179085 TOX T/G 0.49 0.106 0.017 9.22E-10 0.39 0.103 0.035 4.00E-03 0.106 0.015 3.99E-12 0.70
7 rs7829127 8 40726393 ZMAT4 G/A 0.25 0.116 0.020 3.04E-09 0.11 0.112 0.055 4.23E-02 0.116 0.018 3.69E-10 0.66
8 rs7042950 9 77149836 RORB G/A 0.24 −0.113 0.020 1.02E-08 0.42 −0.040 0.037 2.72E-01 −0.096 0.018 4.15E-08 0.83
9 rs10882165 10 94924323 CYP26A1 T/A 0.42 −0.111 0.016 1.25E-11 0.20 −0.060 0.056 2.84E-01 −0.107 0.016 1.03E-11 0.90
10 rs7084402 10 60265403 BICC1 G/A 0.48 −0.111 0.016 7.23E-12 0.50 −0.094 0.035 7.34E-03 −0.108 0.015 2.06E-13 0.71
11 rs11601239 11 105061808 GRIA4 C/G 0.46 −0.092 0.017 3.45E-08 0.42 −0.129 0.058 2.70E-02 −0.095 0.016 5.92E-09 0.83
12 rs3138144 12 56114768 RDH5 C/G 0.48 0.113 0.018 4.28E-10 0.45 0.157 0.072 3.00E-02 0.119 0.017 4.44E-12 0.09
13 rs2184971 13 100818091 PCCA G/A 0.44 0.095 0.016 5.90E-09 0.22 0.022 0.040 5.84E-01 0.085 0.015 2.11E-08 0.96
rs8000973 13 100691366 ZIC2 T/C 0.47 0.089 0.016 4.24E-08 0.22 0.030 0.041 4.63E-01 0.081 0.015 5.10E-08 0.50
14 rs524952 15 35005885 GJD2 A/T 0.48 −0.154 0.021 1.11E-13 0.44 −0.193 0.060 1.00E-03 −0.158 0.020 1.44E-15 0.22
15 rs4778879 15 79372874 RASGRF1 G/A 0.44 −0.103 0.017 1.27E-09 0.39 −0.103 0.043 1.50E-02 −0.102 0.015 4.25E-11 0.15
16 rs17183295 17 31078271 MYO1D T/C 0.23 −0.132 0.021 3.04E-10 0.16 −0.166 0.144 2.49E-01 −0.131 0.020 9.66E-11 0.34
17 rs4793501 17 68718733 KCNJ2 C/T 0.42 0.096 0.016 3.21E-09 0.44 0.010 0.034 7.64E-01 0.080 0.014 2.79E-08 0.04
18 rs12971120 18 72174022 CNDP2 G/A 0.23 0.108 0.020 4.39E-08 0.30 0.014 0.063 8.27E-01 0.099 0.019 1.85E-07 0.49