Table 3 of
Yao, Mol Vis 2006;
12:649-654.Table 3 of
Yao, Mol Vis 2006;
12:649-654.
Table 3. OPA1 SNPs and the allele and genotype frequencies
The significance for comparing the genotype frequencies and for comparing the allele frequencies are shown under the headings p (gene) and p (allele), respectively. Both tests are estimated by a χ2 test (df=2). The double asterisk indicates that the Fisher exact test was applied due to small sample size. The single asterisk indicates a novel variation. The sharp (hash mark) indicates that the polymorphisms show mild deviations from Hardy-Weinberg equilibrium. The table summarizes data from 48 POAG patients and 48 controls.
Nucleotide Codon POAG/IOP Controls p p
Location change Genotype changes n (%) n (%) (gene) (allele)
----------- ----------- -------- ------- --------- ---------- ------ --------
IVS 3a -21 g.23940A>G* A/G 8 (16.7) 7 (14.6) 0.57 0.45
G/G 1 (2.1) 0 (0)
A/A 39 (81.2) 41 (85.4)
ex3b +25 g.23985A>G A/G S158N 25 (52.1) 24 (50.0) 0.96 0.88
G/G 7 (14.6) 8 (16.7)
A/A 16 (33.3) 16 (33.3)
IVS 3b -104 g.24463T>A* T/A 2 (4.2) 5 (10.4) 0.44** 0.44**
T/T 46 (95.8) 43 (89.6)
IVS 3c -19 g.25633T>C* T/C 18 (37.5) 25 (52.1) 0.28 0.66
C/C 12 (25.0) 7 (14.6)
T/T 18 (37.5) 16 (33.3)
ex4 +19 g.25670C>T* C/T A210V 1 (2.1) 1 (2.1) 1.00** 1.00**
C/C 47 (97.9) 47 (97.9)
IVS4 -8 g.32867C>T* C/T 2 (4.2) 0 (0) 0.49** 0.50**
C/C 46 (95.8) 48 (100)
IVS8 +37 g.44101A>C* A/C 10 (20.8) 6 (12.5) 0.27 0.3
A/A 38 (79.2) 42 (87.5)
IVS8 -74 g.44661A>C* A/C 5 (10.4) 8 (16.7) 0.37 0.39
A/A 43 (89.6) 40 (83.3)
ex17 +18 g.53866A>C* A/C A536A 2 (4.2) 3 (6.3) 1.00** 1.00**
A/A 46 (95.8) 45 (93.7)
IVS18 +13 g.54930T>C* T/C 2 (4.2) 1 (2.1) 1.00** 1.00**
T/T 46 (95.8) 47 (97.9)
IVS18 +51# g.54968G>T T/T 3 (6.3) 3 (6.3) 1.00** 1.00**
G/G 45 (93.7) 45 (93.7)
ex21 +96# g.63958T>C T/C A703A 10 (20.8) 5 (10.4) 0.35 0.52
C/C 2 (4.2) 3 (6.3)
T/T 36 (75.0) 40 (83.3)
IVS 26+25# g.73197T>A T/A 4 (8.3) 2 (4.2) 0.43 0.58
A/A 1 (2.1) 3 (6.3)
T/T 43 (89.6) 43 (89.6)
IVS 27 +23 g.74086T>C* T/C 4 (8.3) 4 (8.3) 1.00** 1.00**
T/T 44 (91.7) 44 (91.7)
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