Table 5. Reported frequencies of known polymorphisms and population variants in the CYP1B1, MYOC, OPTN, and OPTC genes in primary open-angle glaucoma patients and controls from different populations.
| Gene |
Polymorphism/ population variant |
Frequency in population |
Reference |
||
| POAG (%) |
Controls (%) |
Population |
|||
|
CYP1B1 |
C.IVS1-120T |
23 |
22 |
Eastern India |
Acharya etal [20]. |
| c.I42C>G(Arg48Gly) |
43.5 |
39 |
Eastern India |
Acharya et al. [20] |
|
| c.355G>T(Alall9Ser) |
43.5 |
39 |
Eastern India |
Acharya et al. [20] |
|
| c.729G>C (Val243Val) |
1.27 |
4.26 |
France |
Mclki etal [2]. |
|
| c.l294G>C(Val432Leu) |
51 |
59 |
Eastern India |
Acharya et al. [20] |
|
| c.l347T>C(Asp449Asp) |
51 |
60 |
Eastern India |
Acharya et al. [20] |
|
| C.1358A>G (Asn453Ser) |
16.5 |
14 |
Eastern India |
Acharya et al. [20] |
|
|
MYOC |
-83G>A (Promoter region)* |
18 |
23 |
U.S.A. |
Alwardet al [29]. |
| 30 |
39 |
Japan |
Suzuki et al. [41] |
||
| 73.2 |
68.62 |
Eastern India |
Mukhopadhyy et al. [16] |
||
| c.227G>A (Arg76Lys) |
19 |
18.7 |
U.S.A. |
Alwardet al [29]. |
|
| 73.2 |
68.62 |
Eastern India |
Mukhopadhyy et al. [16] |
||
| c.366C>T(Glyl22GIy) |
0.53 |
0.0 |
U.S.A. |
Alwardetal [29]. |
|
| c.l041T>C(Tyr347Tyr) |
5.4 |
7.7 |
U.S.A |
Alward et al. [29] |
|
|
OPTN |
c.603T>A (Mel98Lys) |
28.6 |
24.6 |
China |
Leung et al. [36] |
| 13.6 |
2.1 |
U.S.A. |
Rezaieetal [13]. |
||
| 11 |
5.5 |
Eastern India |
Mukhopadhyay et al. [21] |
||
| 4.1 |
0.0 |
South Indian state of Tamil Nadu |
Sripriya et al. [22] |
||
| 16.9 |
5 |
Japan |
Fuseet al [33]. |
||
| 6.25 |
7 |
Germany |
Weisschuh et al. [35] |
||
| 4.64 |
4.54 |
France |
Mclki et al. [39] |
||
| 10.7 |
8.33 |
Morocco |
Melki et. al. [39] |
||
| 13.33 |
13.78 |
Japan |
Toda ct al [37]. |
||
| 20.7 |
9.0 |
Japan |
Alwardet al [38]. |
||
| c.712C>A (Alal34Ala) |
1.75 |
0.92 |
Afro-Caribbean Jewish/Scottish/African Somalian |
Willoughby et al. [42] |
|
| IVS7+24G>A |
10.9 |
4 |
China |
Leung et al. [36] |
|
|
OPTC |
c.803T>C (Leu268Pro) |
6.9 |
14.55 |
French-Canada |
Friedman ct al [23]. |
| c.810G>A (Leu270Leu) | 0.0 | 3.66 | French-Canada | Friedman ct al [23]. | |
We did not look for another MYOC promoter polymorphism at nt -1000 (-1000C>G; MYOC.mt1; asterisk) in our primary open-angle glaucoma (POAG) data set because Alward et al. [43] and Özgül et al. [44] have observed that it is not a risk factor for the development of glaucoma in patients from the U.S.A. or Turkey, respectively.