Table 5. P values from rank transformed traits and effect sizes from the quantitative cortical scores (β) of the risk allele at markers under the dominant model in EPHA2 for each separate study and for the joint analysis of all studies.
Trait and SNP | RAa | Individual Study Analysis (β)b | Meta-Analysis (Z-score)c | ||||
BDES | UKTS | BMES | BMES Trend | Family Set | All | ||
Cortical Cataract Score | |||||||
rs7548209 | C | 0.4516 | 0.0524 | 0.0365 (0.85) | - | 0.1561 | 0.0747 |
rs3754334 | A | 0.3935 | 0.0252 (2.95) | 0.0734 | - | 0.1205 | 0.0180 (2.37) |
Arg721Gln | A | 2×10−8 (9.20) | MS | NA | - | - | - |
rs3768293 | G | 0.0016 (1.24) | 0.0439 (2.94) | 0.2705 | - | 3×10−4 (3.65) | 9×10−4 (3.34) |
rs6603867 | C | 1×10−4 (1.58) | 0.8325 | 0.2411 | - | 4×10−5 (4.13) | 0.7110 |
rs6678616 | A | 7×10−5 (1.24) | 0.5249 | 0.1520 | - | 1×10−4 (3.90) | 1×10−4 (3.87) |
Haplotype | |||||||
rs7548209-rs3754334 | CG | - | - | 0.0024 (2.36) | - | - | - |
rs7548209-rs3754334 | GG | - | - | 0.0202 (−0.74) | - | - | - |
rs6603867-rs6678616 | CA | - | - | 1×10−6 (6.57) | - | - | - |
Severe Cortical Cataract | |||||||
rs7548209 | C | 4×10−6 | 3×10−4 | 0.1051 | 0.0027 | 8×10−9 (5.78)d | 0.3884 |
rs3754334 | A | 0.0225 | 1×10−4 | 0.0196 | 0.0065 | 2×10−4 (3.70)d | 0.1602 |
Arg721Gln | A | 8×10−5 | MS | NA | - | - | - |
rs3768293 | G | 7×10−6 | 0.0040 | 0.0433 | 0.0140 | 9×10−8 (5.34)d | 0.0037 (2.91)d |
rs6603867 | C | 2×10−5 | 0.0150 | 0.0435 | 0.0265 | 7×10−5 (3.97) | 0.0409 (2.04) |
rs6678616 | A | 0.0215 | 0.0152 | 0.3788 | 0.0452 | 0.0014 (3.19)d | 0.0271 (2.21) |
Cells with a dash indicate that the analysis was not performed.
RA represents risk alleles (reference alleles).
MS and NA represent monomorphic SNPs and SNPs that were not analyzed because of small variance under the dominant model, respectively. The Cochran-Armitage (additive) trend test (BMES Trend) was also used to conduct a case-control association test of individuals age-matched for severe or no cortical cataract in the BMES. Parentheses in each individual study for cortical cataract represent effect sizes (β).
Parentheses in meta-analysis represent Z-scores.
In the meta-analyses, these SNPs for severe cortical cataract show significant P values for heterogeneity tests of effect sizes (Q test P<0.05).