Table 5. Tests of association between MYOC polymorphisms and high myopia.
| Polymorphism | Failed genotypes (%) | HWE p value | Unphased p value (corrected p value) | Unphased relative risk (95% CI) |
|---|---|---|---|---|
| Duke University Cohort | ||||
|
rs6425363 |
1.5 |
1.00 |
0.57 |
1.15 (0.71–1.86) |
|
rs235917 |
4.4 |
0.55 |
0.49 |
1.13 (0.79–1.59) |
|
rs235875 |
2.7 |
0.20 |
0.36 |
1.20 (0.81–1.75) |
|
rs2032555 |
3.5 |
0.01 |
Not tested due to HWE status |
|
| Cardiff University Cohort | ||||
|
rs235877 |
12.0 |
0.09 |
0.57 |
1.07 (0.84–1.37) |
|
rs235870 |
9.0 |
0.27 |
0.53 |
0.93 (0.74–1.17) |
|
rs2236875 |
10.0 |
0.01 |
Not tested due to HWE status |
|
|
rs235918 |
8.0 |
0.19 |
0.53 |
1.07 (0.86–1.34) |
|
rs11586716 |
8.6 |
0.13 |
0.38 |
0.73 (0.84–1.44) |
|
rs2075648 |
9.8 |
0.07 |
0.59 |
0.91 (0.64–1.28) |
| NGA17 |
0.1 |
0.08 |
0.03 (0.39) |
0.70 (0.55–0.92) |
| NGA19 |
0.2 |
0.49 |
0.97 |
1.02 (0.82–1.26) |
| Combined Cohorts | ||||
|
rs16864720 |
7.9 |
0.85 |
0.04 (0.65) |
1.30 (1.004–1.73) |
|
rs7545646 |
12.0 |
0.05 |
0.06 |
1.30 (0.98–1.8) |
|
rs12076134 |
9.4 |
0.81 |
0.09 |
1.20 (0.97–1.48) |
|
rs235858
* |
13.0 |
0.86 |
0.87 |
1.02 (0.84–1.22) |
| rs2421853 * | 13.0 | 0.18 | 0.25 | 1.13 (0.91–1.39) |
The results shown in the table are for the analysis of the full set of subjects (i.e. families, cases and controls). For each marker studied, the table gives (column 1) the genotyping error rate, (column 2) the p-value for a contingency test examining whether the marker allele frequencies are in Hardy-Weinberg equilibrium (HWE), (column 3) the uncorrected, and in brackets the Bonferroni-corrected, p-values for an Unphased analysis examining whether the marker allele frequencies are associated with high myopia affectation status, and (column 4) the relative risk of high myopia calculated by Unphased for subjects carrying the second allele relative to carrying the first (reference) allele, along with the 95% confidence interval of the relative risk estimate. The 2 SNPs marked with an asterisk were found to be significantly associated with high myopia in the study of Tang et al. [17].