Table 5 of
Lopez-Martinez, Mol Vis 2007;
13:862-872.Table 5 of
Lopez-Martinez, Mol Vis 2007;
13:862-872.
Table 5. Allele frequencies of myocilin promoter and coding sequence variations in primary open-angle glaucoma, adult-onset ocular hypertension, and control subjects
The full description of -700_699ins is -700_699insCAGACACACATATACATGCACATACACA. In the table, I indicates the insertion allele, WT indicates the wild-type allele, and n is the total number of chromosomes. The asterisk indicates POAG versus controls and the sharp (hash mark) indicates OHT versus controls.
POAG (%) OHT (%) CONTROL (%)
Polymorphism Allele (n=220) (n=80) (n=196) P* P#
---------------------- ------ -------- ------- ----------- ---- ----
-1000C>G C 90.0 88.7 86.7 0.29 0.64
G 10.0 11.3 13.3
-700_699ins WT 100.0 99.5 100.0 1.00 0.28
I 0.0 0.5 0.0
-387C>T C 89.5 88.7 86.7 0.37 0.64
T 10.5 11.3 13.3
-339(GT)11-19 11 0.5 0.0 0.0 0.14 0.48
12 9.5 16.6 16.3
13 34.1 40.0 40.8
14 27.3 15.0 19.4
15 27.3 26.7 22.4
16 1.3 0.0 1.0
19 0.0 1.6 0.0
-315G>A G 100.0 99.5 100.0 1.00 0.28
A 0.0 0.5 0.0
-306G>A G 80.5 85.0 81.6 0.80 0.53
A 19.5 15.0 18.4
-224T>C T 80.0 71.2 69.9 0.06 0.80
C 20.0 28.8 30.1
-190G>T G 100.0 100.0 99.5 0.39 0.28
T 0.0 0.0 0.5
-126T>C T 97.7 95.0 98.5 0.70 0.21
C 2.3 5.0 1.5
-83G>A G 88.2 93.7 87.8 0.90 0.10
A 11.8 6.3 12.2
c.250G>A (Arg76Lys) G 89.0 95.0 89.7 0.87 0.10
A 11.0 5.0 10.3
c.499A>G (Leu159Leu) A 100.0 97.5 100.0 1.00 0.08
G 0.0 2.5 0.0
c.520G>C (Leu166Leu) G 100.0 98.8 100.0 1.00 0.28
C 0.0 1.2 0.0
c.877G>T (Thr285Thr) G 100.0 100.0 99.5 0.47 0.28
T 0.0 0.0 0.5
c.997G>A (Thr325Thr) G 99.1 98.8 99.5 1.00 0.48
A 0.9 1.2 0.5
c.1063T>C (Tyr347Tyr) T 99.1 95.0 99.0 1.00 0.31
C 0.9 5.0 1.0
C.12145A>G (Lys398Arg) A 100.0 100.0 99.5 0.47 0.28
G 0.0 0.0 0.5
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