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

Lopez-Martinez, Mol Vis 2007; 13:862-872 <http://www.molvis.org/molvis/v13/a94/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535