Table 5. Genotype representation and associations under dominant and recessive model between keratoconus patients and controls.
| COL4A3 polymorphism | Genotype | Cases (n=104) | Controls (n=157) |
Dominant model |
Recessive model |
||||
|---|---|---|---|---|---|---|---|---|---|
| p-value | OR | RR | p-value | OR | RR | ||||
| G43R |
127GG |
95 |
144 |
NC |
NC |
NC |
1.0000 |
|
|
| |
127CC |
0 |
0 |
1.0000 |
|
|
NC |
NC |
NC |
| |
127GC |
9 |
13 |
|
|
|
|
|
|
| P141L |
422CC |
69 |
116 |
0.0177 |
8.524 |
5.399 |
0.2115 |
|
|
| |
422TT |
1 |
12 |
0.2115 |
|
|
0.0177 |
0.117 |
0.1852 |
| |
422CT |
34 |
29 |
|
|
|
|
|
|
| E162G |
485AA |
71 |
111 |
0.2489 |
|
|
0.6821 |
|
|
| |
485GG |
1 |
6 |
0.6821 |
|
|
0.2489 |
|
|
| |
485AG |
32 |
40 |
|
|
|
|
|
|
| D326Y |
976GG |
96 |
66 |
<0.0001 |
30.645 |
17.013 |
<0.0001 |
16.545 |
7.333 |
| |
976TT |
1 |
36 |
<0.0001 |
0.060 |
0.136 |
<0.0001 |
0.033 |
0.058 |
| |
976GT |
7 |
55 |
|
|
|
|
|
|
| H451R |
1352AA |
89 |
135 |
NC |
NC |
NC |
1.0000 |
|
|
| |
1352GG |
0 |
0 |
1.0000 |
|
|
NC |
NC |
NC |
| |
1352AG |
15 |
22 |
|
|
|
|
|
|
| G484G |
1452GG |
95 |
141 |
NC |
NC |
NC |
0.8306 |
|
|
| |
1452AA |
0 |
0 |
0.8306 |
|
|
NC |
NC |
NC |
| |
1452GA |
9 |
16 |
|
|
|
|
|
|
| P574L |
1721CC |
28 |
41 |
0.5039 |
|
|
0.3853 |
|
|
| |
1721TT |
14 |
32 |
0.3853 |
|
|
0.5039 |
|
|
| |
1721CT |
62 |
84 |
|
|
|
|
|
|
| G895G |
2685AA |
44 |
76 |
0.0399 |
0.336 |
0.589 |
0.3752 |
|
|
| |
2685CC |
11 |
6 |
0.3752 |
|
|
0.0399 |
2.977 |
1.698 |
| |
2685AC |
49 |
75 |
|
|
|
|
|
|
|
COL4A4 polymorphism |
Genotype |
Cases (n=104) |
Controls (n=157) |
Dominant model |
Recessive model |
||||
|
p-value |
OR |
RR |
p-value |
OR |
RR |
||||
| P482S |
1444CC |
31 |
36 |
0.0147 |
0.360 |
0.597 |
0.2474 |
|
|
| |
1444TT |
18 |
11 |
0.2474 |
|
|
0.0147 |
2.788 |
1.674 |
| |
1444CT |
55 |
110 |
|
|
|
|
|
|
| G545A |
1634GG |
97 |
144 |
NC |
NC |
NC |
0.8130 |
|
|
| |
1634CC |
0 |
0 |
0.8130 |
|
|
NC |
NC |
NC |
| |
1634GC |
7 |
13 |
|
|
|
|
|
|
| G789G |
2367AA |
97 |
145 |
0.3985 |
|
|
1.0000 |
|
|
| |
2367TT |
1 |
0 |
1.0000 |
|
|
0.3985 |
|
|
| |
2367AT |
6 |
12 |
|
|
|
|
|
|
| M1327V |
3979AA |
5 |
62 |
0.0897 |
|
|
<0.0001 |
0.077 |
0.146 |
| |
3979GG |
35 |
37 |
<0.0001 |
12.922 |
6.838 |
0.0897 |
|
|
| |
3979AG |
64 |
58 |
|
|
|
|
|
|
| V1516V |
4548AA |
32 |
53 |
0.0362 |
1.993 |
1.561 |
0.6861 |
|
|
| |
4548GG |
17 |
44 |
0.6861 |
|
|
4 |
0.502 |
0.641 |
| |
4548AG |
55 |
60 |
|
|
|
|
|
|
| F1644F |
4932CC |
43 |
46 |
0.0038 |
2.890 |
2.053 |
0.0469 |
1.701 |
1.362 |
| |
4932TT |
11 |
40 |
0.0469 |
0.588 |
0.734 |
0.0038 |
0.346 |
0.487 |
| 4932CT | 50 | 71 | |||||||
Significant differences are shown in bold. Cases: keratoconus patients, Controls: healthy blood donors, n: number of individuals, NC- not calculated, Genotype: Genotypes found representing each polymorphism in cases and controls. Fisher’s exact test was used for statistics. Differences between genotypes are significant when two-sided p-value (p-value) is less than 0.05. OR: Odds ratio, RR: relative risk. OR and RR are shown only for genotypes with significant differences (p-value less than 0.05). Dominant model column shows Fisher’s test results calculated from the sum of the number of individuals with homozygous and heterozygous genotypes compared to the number of individuals with another homozygous genotype for each polymorphism. Recessive model column shows Fisher’s test results obtained by comparing the number of individuals with homozygous genotype against the sum of individuals with another homozygous or heterozygous genotype for each polymorphism.