Table 2 of Aung, Mol
Vis 2008; 14:1313-1318. Table 2 of Aung, Mol
Vis 2008; 14:1313-1318.
Table 2. CHX10 and MFRP sequence alterations detected and investigated in primary angle closure glaucoma patients.
| Gene | Sequence change | Exon | Allele Distribution (%) | Allele Association (p-value) | Odds ratio (95% CI) | Genotype Distribution (%) | Genotype Association on p-value | Odds ratio (95% CI) | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cases n=108 | Controls n=93 | Cases n=108 | Controls n=93 | |||||||||
| CHX10 | Ser157Ser (c.471C>T) rs35435463 | Exon 3 | C | 206 (0.95) | 177 (0.95) | 1.0000 | 1.05 (0.37–2.94) | CC | 99 (0.92) | 84 (0.903) | 0.6187 | 1.32+ (0.43–4.14) |
| T | 10 (0.05) | 9 (0.05) | CT | 8 (0.074) | 9 (0.097) | NA | NA | |||||
| TT | 1 (0.009) | 0 (0.0) | NA | NA | ||||||||
| *Gly243Asp (c.728G>A) | Exon 4 | G | 215 (0.995) | 186 (1.00) | NA | NA | GG | 107 (0.99) | 93 (1.0) | NA | NA | |
| A | 1 (0.005) | 0 (0.0) | GA | 1 (0.01) | 0 (0.0) | NA | NA | |||||
| AA | 0 (0.0) | 0 (0.0) | NA | NA | ||||||||
| Pro250Pro (c.750G>A) | Exon 4 | G | 215 (0.995) | 180 (0.97) | 0.0525 | 7.14 (0.85–330.62) | GG | 107 (0.99) | 87 (0.94) | 0.0506 | 7.32+ (0.86–341.96) | |
| A | 1 (0.005) | 6 (0.03) | GA | 1 (0.01) | 6 (0.06) | NA | NA | |||||
| AA | 0 (0.0) | 0 (0.0) | NA | NA | ||||||||
| Asp291Asn (c.871G>A) | Exon 5 | G | 209 (0.97) | 178 (0.96) | 0.6073 | 1.34 (0.42–4.44) | GG | 101 (0.94) | 85 (0.91) | 0.6005 | 1.35+ (0.41–4.59) | |
| A | 7 (0.03) | 8 (0.04) | GA | 7 (0.06) | 8 (0.09) | NA | NA | |||||
| AA | 0 (0.0) | 0 (0.0) | NA | NA | ||||||||
| MFRP | Arg64Arg (c.192C>G) | Exon 3 | C | 196 (0.99) | 177 (0.99) | 1.0000d | 0.55 (0.01–10.74) | CC | 97 (0.98) | 88 (0.99) | 1.0000d | 0.55+ (0.01–10.79) |
| G | 2 (0.01) | 1 (0.01) | CG | 2 (0.02) | 1 (0.01) | NA | NA | |||||
| GG | 0 (0.0) | 0 (0.0) | NA | NA | ||||||||
| Val136Met (c.406G>A) rs3814762 | Exon4 | G | 185 (0.86) | 157 (0.84) | 0.5725 | 1.18 (0.65 - 2.14) | GG | 79 (0.74) | 65 (0.70) | 0.6316 | 1.21+ (0.62 - 2.38) | |
| A | 29 (0.14) | 29 (0.16) | GA | 27 (0.25) | 27 (0.29) | 1.0000D | 1.21++ (0.01 - 96.52) | |||||
| AA | 1 (0.01) | 1 (0.01) | 1.0000d | 1.00+++ (0.01 - 81.32) | ||||||||
| Tyr164Tyr (c.492C>T) rs36015759 | Exon 5 | C | 164 (0.77) | 148 (0.80) | 0.5455 | 0.84 (0.51–1.39) | CC | 64 (0.60) | 58 (0.62) | 1.0000d | 0.98+ (0.52 - 1.85) | |
| T | 50 (0.23) | 38 (0.20) | CT | 36 (0.34) | 32 (0.35) | 0.3394 | 0.47++ (0.07 - 2.20) | |||||
| TT | 7 (0.06) | 3 (0.03) | 0.498 | 0.49+++ (0.07- 2.36) | ||||||||
| His180His (c.540 C>T) rs2510143 | Exon 5 | C | 166 (0.82) | 163 (0.88) | 0.1575 | 0.65 (0.35 - 1.18) | CC | 69 (0.68) | 72 (0.78) | 0.2397 | 0.65+ (0.31 - 1.33) | |
| T | 36 (0.18) | 23 (0.12) | CT | 28 (0.28) | 19 (0.20) | 0.4417 | 0.48++ (0.04 - 3.48) | |||||
| TT | 4 (0.04) | 2 (0.02) | 1.0000d | 0.74+++ (0.06–5.78) | ||||||||
| *Arg257His (c.770 G>A) | Exon 6 | G | 208 (0.99) | 186 (1.0) | NA | NA | GG | 103 (0.98) | 93 (1.0) | NA | NA | |
| A | 2 (0.01) | 0 (0.0) | GA | 2 (0.02) | 0 (0.0) | NA | NA | |||||
| AA | 0 (0.0) | 0 (0.0) | NA | NA | ||||||||
| Leu318Leu (c.954 G>A) rs35885438 | Exon 9 | G | 186 (0.98) | 178 (0.96) | 0.2547 | 2.08 (0.55–9.63) | GG | 91 (0.96) | 85 (0.91) | 0.2473 | 2.13+ (0.55–10.04) | |
| A | 4 (0.02) | 8 (0.04) | GA | 4 (0.04) | 8 (0.09) | NA | NA | |||||
| AA | 0 (0.0) | 0 (0.0) | NA | NA | ||||||||