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. 2007 Apr 30;13:667–676.

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.