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 |