Table 3. Model-free tests of association with myopia.
|
Marker |
Location |
TDT analysis |
||
|
Number of informative families |
p-values |
|||
|
Bi-allelic |
Haplotype |
|||
|
Chromosome 4 |
||||
| FGF2 rs1048201 |
4q27 |
32 |
0.01 |
|
| FGF2 rs1982569 |
4q27 |
42 |
0.13 |
0.59 |
| FGF2 rs308447 |
4q27 |
25 |
0.83 |
|
|
Chromosome 11 |
||||
| PAX6 rs3026401 |
11p13 |
22 |
0.62 |
|
| PAX6 rs662702 |
11p13 |
8 |
NR |
|
| PAX6 rs1506 |
11p13 |
4 |
NR |
|
| PAX6 rs2239789 |
11p13 |
56 |
0.89 |
0.79 |
| PAX6 rs628224 |
11p13 |
24 |
0.22 |
|
| BDNF rs6265 |
11p14.1 |
29 |
0.67 |
|
|
Chromosome 12 |
||||
| COL2A1 rs1635529 |
12q13.11 |
44 |
0.00007 |
|
| COL2A1 rs1635550 |
12q13.11 |
34 |
0.19 |
0.78 |
| COL2A1 rs2248990 |
12q13.11 |
65 |
0.54 |
|
| COL2A1 rs3737548 |
12q13.11 |
58 |
0.13 |
|
| D12S2076 (GATA30F04) |
12q21.31 |
37 |
NS |
|
| D12S1051 (GATA2401) |
12q23.1 |
32 |
NS |
|
| D12S2081 (GATA7A02) |
12q23.1 |
42-46 |
NS |
|
| D12S393 (GATA15A03) |
12q23.1 |
10-60 |
NS |
|
| D12S1059 (GATA47G01) |
12q23.1 |
17 |
NS |
|
| D12S1041 (ATA24F01) |
12q23.1 |
10-59 |
NS |
|
| D12S1030 (GATA6H09) |
12q23.2 |
32-54 |
NS |
|
|
Chromosome 18 |
||||
| D18S476 |
18p11.32 |
12-31 |
NS |
|
| GATA178F11 |
18p11.32 |
10-16 |
NS |
|
| D18S52 |
18p11.32 |
11-37 |
NS |
|
| GATA185C06 |
18p11.32 |
14-38 |
NS |
|
| D18S967 (GATA116D12) |
18p11.32 |
20-61 |
NS |
|
|
Chromosome 21 |
||||
| COL18A1 rs9983675 |
21q22.3 |
58 |
0.84 |
|
| COL18A1 rs1051298 |
21q22.3 |
63 |
0.85 |
0.77 |
| COL18A1 rs2236479 | 21q22.3 | 30 | 0.24 | |
The significant finding from the analysis is an association between myopia and COL2A1 (rs1635529). The p value for FGF2 (rs1048201) is not significant after correction for multiple comparisons. The significant p value is marked in red. In the table, NR indicates the p-value was not reported due to an insufficient number of informative families. Also, NS indicates the p-value is not significant for any allele with a sufficient number of informative families.