Table 2 of Fan, Mol Vis 2005; 11:625-631.


Table 2. OPTN polymorphisms observed in this study

119 POAG patients (72 HTG and 47 NTG) had been previously reported [17]. E103D and H486R had been each found in one NTG patient. The numbers under "Genotype frequency" are the counts of homozygotes, heterozygotes, and wildtype. The sharp (#) indicates that when compared to controls, a higher frequency of allele A carriers was found in NTG (OR=2.3, 95% CI: 1.4, 3.7; p=0.0008). The single asterisk indicates that when compared with controls, the frequencies of allele G carriers were higher in HTG (OR=2.3, 95% CI: 1.4, 3.8; p=0.0006) and NTG (OR=5.0, 95% CI: 2.9, 8.9; p<0.0001). The double asterisk indicates that the frequency of allele C carriers was higher in HTG (OR=4.0, 95% CI: 1.8, 8.7; p=0.0002) than in controls.

                                      Allele frequency (percentage)             Genotype frequency
                                    ----------------------------------   --------------------------------
              Sequence     Codon       HTG          NTG       Control       HTG         NTG       Control
Location       change      change    (n=588)      (n=212)     (n=562)     (n=294)     (n=106)     (n=281)
---------   ------------   ------   ----------   ---------   ---------   ---------   ---------   --------
Exon 5      c.573T>C       I88T       1  (0.2)    1  (0.5)    0  (0.0)    0/ 1/293    0/ 1/105   0/ 0/281
Exon 5      c.603T>A       M98K     100 (17.0)   42 (19.8)   88 (15.7)   10/80/204    3/36/67    7/74/200
Exon 5      c.619G>C       E103D      0  (0.0)    1  (0.5)    0  (0.0)    0/ 0/294    0/ 1/105   0/ 0/281
Exon 14     c.1767A>G      H486R      0  (0.0)    1  (0.5)    0  (0.0)    0/ 0/294    0/ 1/105   0/ 0/281
Exon 16     c.1944G>A      R545Q     21  (3.6)    7  (3.3)   19  (3.4)    1/19/274    0/ 7/ 99   0/19/262

Exon 4      c.412G>A       T34T#     86 (14.6)   46 (21.7)   61 (10.9)   10/66/218    6/34/ 66   2/57/222
Exon 4      c.457C>T       T49T       7  (1.2)    1  (0.5)    9  (1.6)    0/ 7/287    0/ 1/105   0/ 9/272
Exon 6      c.754G>A       V148V      0  (0.0)    1  (0.5)    1  (0.2)    0/ 0/294    0/ 1/105   0/ 1/280
Exon 7      c.907T>C       P199P      0  (0.0)    0  (0.0)    1  (0.2)    0/ 0/294    0/ 0/106   0/ 1/280
Exon 7      c.916G>A       T202T      0  (0.0)    0  (0.0)    1  (0.2)    0/ 0/294    0/ 0/106   0/ 1/280

Intron 5    IVS5+38T>G*      -       73 (12.4)   53 (25.0)   29  (5.2)   15/43/236   16/21/ 69   2/25/254
Intron 6    IVS6+50delT      -        1  (0.2)    0  (0.0)    0  (0.0)    0/ 1/293    0/ 0/106   0/ 0/281
Intron 6    IVS6-5T>C        -       50  (8.5)   32 (15.1)   56 (10.0)    7/36/251    6/20/ 80   4/48/229
Intron 6    IVS6-10G>A       -       29  (4.9)   14  (6.6)   25  (4.4)    0/29/265    0/14/ 92   0/25/256
Intron 7    IVS7+24G>A       -       37  (6.3)   15  (7.1)   24  (4.3)    0/37/257    0/15/ 91   1/22/258
Intron 8    IVS8+20G>A       -       11  (1.9)   10  (4.7)    7  (1.2)    0/11/283    0/10/ 96   0/ 7/274
Intron 8    IVS8-53T>C**     -       21  (3.6)   16  (7.5)   12  (2.1)    3/15/276    0/16/ 90   0/12/269
Intron 8    IVS8-84G>A       -        1  (0.2)    0  (0.0)    0  (0.0)    0/ 1/293    0/ 0/106   0/ 0/281
Intron 13   IVS13+21C>G      -        3  (0.5)    1  (0.5)    3  (0.5)    0/ 3/291    0/ 1/105   0/ 3/278
Intron 15   IVS15+10G>A      -        9  (1.5)    1  (0.5)    8  (1.4)    0/ 9/285    0/ 1/105   0/ 8/273
Intron 15   IVS15-48C>A      -        9  (1.5)    0  (0.0)    3  (0.5)    1/ 7/286    0/ 0/106   0/ 3/278

Fan, Mol Vis 2005; 11:625-631 <http://www.molvis.org/molvis/v11/a74/>
©2005 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535