Table 6 of
Lopez-Martinez, Mol Vis 2007;
13:862-872.Table 6 of
Lopez-Martinez, Mol Vis 2007;
13:862-872.
Table 6. Genotype 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.
Allele1/ POAG (%) OHT (%) CONTROL (%)
Polymorphism Allele2 (n=110) (n=40) (n=98) P* P#
--------------------- -------- -------- ------- ----------- ---- ----
-1000C>G C/C 80.0 82.5 86.7 0.26 0.12
C/G 20.0 12.5 13.3
G/G 0.0 5.0 0.0
-700_699ins# WT/WT 100.0 97.5 100.0 1.00 0.28
WT/I 0.0 2.5 0.0
I/I 0.0 0.0 0.0
-387C>T C/C 80.0 82.5 86.7 0.30 0.12
C/T 19.0 12.5 13.3
T/T 1.0 5.0 0.0
-339(GT)11-19 11/15 1.8 0.0 0.0 0.44 0.47
12/13 18.2 33.3 30.6
12/14 1.8 0.0 1.0
12/15 0.0 0.0 1.0
13/14 24.5 10.0 22.5
13/15 23.6 33.3 27.5
13/16 1.8 0.0 1.0
13/19 0.0 3.3 0.0
14/15 27.3 20.0 15.3
15/16 0.9 0.0 1.0
-315G>A G/G 100.0 97.5 100.0
G/A 0.0 2.5 0.0
A/A 0.0 0.0 0.0
-306G>A G/G 64.5 65.0 64.3 0.60 0.74
A/G 33.6 32.5 34.7
A/A 1.9 2.5 1.0
-224 T>C T/T 62.7 55.0 49.0 0.10 0.70
C/T 34.5 32.5 41.8
C/C 2.7 12.5 9.2
-190G>T G/G 100.0 100.0 99.0 0.47 1.00
G/T 0.0 0.0 1.0
T/T 0.0 0.0 0.0
-126T>C T/T 95.5 90.0 96.9 0.69 0.21
C/T 4.5 10.0 3.1
C/C 0.0 0.0 0.0
-83G>A G/G 78.1 88.1 76.5 0.94 0.24
A/G 21.0 11.9 22.5
A/A 0.9 0.0 1.0
c.250G>A (Arg76Lys) G/G 79.0 89.0 79.6 1.00 0.27
A/G 20.0 11.0 19.3
A/A 0.9 0.0 1.0
c.499A>G (Leu159Leu) A/A 99.0 97.5 100.0 1.00 0.28
A/G 1.0 2.5 0.0
G/G 0.0 0.0 0.0
c.520G>C (Leu166Leu) G/G 99.0 100.0 100.0 1.00 1.00
G/C 1.0 0.0 0.0
C/C 0.0 0.0 0.0
c.877G>T (Thr285Thr) G/G 100.0 97.5 99.0 0.47 0.20
G/T 0.0 2.5 1.0
T/T 0.0 0.0 0.0
c.997G>A (Thr325Thr) G/G 97.0 97.5 99.0 0.62 0.47
G/A 3.0 2.5 1.0
A/A 0.0 0.0 0.0
c.1063T>C (Tyr347Tyr) T/T 96.3 95.0 98.0 0.68 0.32
T/C 3.7 5.0 2.0
C/C 0.0 0.0 0.0
C.1215A>G (Lys398Arg) A/A 100.0 100.0 99.0 0.47 1.00
A/G 0.0 0.0 1.0
G/G 0.0 0.0 0.0
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