21 September 2015 : Laboratory Research
Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy
Katarzyna A. Wójcik BCDEF , Ewelina Synowiec BCDF , Piotr Polakowski D , Janusz Błasiak AEF , Jerzy Szaflik AFG , Jacek P. Szaflik AEGDOI: 10.12659/MSM.894273
Med Sci Monit 2015; 21:2809-2827
Supplementary Table 11. Distribution of genotypes of the 46438521G>C – NEIL1, c.2285T>C – PARP-1, c.–1370T>A – POLG, c.580C>T – XRCC1 and c.1196A>G – XRCC1 polymorphisms in patients with scattered form of Fuchs dystrophy and controls.
| Polymorphism genotype/allele | Controls | FECD | Crude OR (95% CI) | p | Adjusted OR* (95% CI) | p |
|---|---|---|---|---|---|---|
| Number (frequency) | ||||||
| g.46438521G>C | ||||||
| C/C | 98 (0.28) | 14 (0.18) | 0.58 (0.31–1.08) | 0.085 | 0.54 (0.26–1.11) | 0.095 |
| C/G | 240 (0.68) | 60 (0.78) | 1.66 (0.93–2.98) | 0.088 | 1.85 (0.93–3.67) | 0.077 |
| G/G | 15 (0.04) | 3 (0.04) | 0.91 (0.26–3.24) | 0.889 | 0.74 (0.17–3.28) | 0.691 |
| C | 436 (0.62) | 88 (0.57) | 0.69 (0.42–1.14) | 0.147 | 0.68 (0.38–1.22) | 0.199 |
| G | 270 (0.38) | 66 (0.43) | 1.45 (90.88–2.40) | 0.147 | 1.46 (0.82–2.61) | 0.199 |
| c.2285T>C | ||||||
| A/A | 239 (0.68) | 50 (0.65) | 0.88 (0.52–1.48) | 0.639 | 1.09 (0.59–2.01) | 0.790 |
| A/G | 114 (0.32) | 27 (0.35) | 1.13 (0.67–1.90) | 0.639 | 0.92 (0.50–1.70) | 0.790 |
| G/G | 0 (0.00) | 0 (0.00) | – | – | – | – |
| A | 592 (0.84) | 127 (0.82) | 0.88 (0.53–1.48) | 0.639 | 1.09 (0.59–2.01) | 0.790 |
| G | 114 (0.16) | 27 (0.18) | 1.13 (0.67–1.90) | 0.639 | 0.92 (0.50–1.70) | 0.790 |
| c.–1370T>A | ||||||
| A/A | 46 (0.13) | 13 (0.17) | 1.36 (0.69–2.65) | 0.375 | 1.52 (0.72–3.23) | 0.274 |
| A/T | 203 (0.57) | 45 (0.58) | 1.04 (0.63–1.71) | 0.880 | 1.46 (0.81–2.63) | 0.211 |
| T/T | 104 (0.30) | 19 (0.25) | 0.78 (0.44–1.38) | 0.401 | ||
| A | 295 (0.42) | 71 (0.46) | 1.24 (0.84–1.83) | 0.279 | ||
| T | 411 (0.58) | 83 (0.54) | 0.81 (0.55–1.19) | 0.279 | ||
| c.580C>T | ||||||
| C/C | 305 (0.86) | 66 (0.86) | 0.94 (0.46–1.91) | 0.874 | 0.87 (0.37–2.05) | 0.754 |
| C/T | 48 (0.14) | 11 (0.14) | 1.06 (0.52–2.15) | 0.874 | 1.15 (0.49–2.69) | 0.754 |
| T/T | 0 (0.00) | 0 (0.00) | – | – | – | – |
| C | 653 (0.92) | 140 (0.91) | 0.79 (0.42–1.52) | 0.488 | 0.63 (0.29–1.38) | 0.251 |
| T | 53 (0.08) | 14 (0.09) | 1.26 (0.66–2.41) | 0.488 | 1.58 (0.72–3.42) | 0.251 |
| c.1196A>G | ||||||
| A/A | 72 (0.20) | 23 (0.30) | 1.66 (0.95–2.89) | 0.071 | 1.52 (0.80–2.89) | 0.204 |
| A/G | 218 (0.62) | 44 (0.57) | 0.82 (0.50–1.36) | 0.453 | 0.73 (0.41–1.31) | 0.291 |
| G/G | 63 (0.18) | 10 (0.13) | 0.69 (0.33–1.41) | 0.306 | 0.97 (0.43–2.19) | 0.941 |
| A | 362 (0.51) | 90 (0.58) | 1.45 (0.97–2.17) | 0.068 | 1.40 (0.89–2.20) | 0.145 |
| G | 344 (0.49) | 64 (0.42) | 0.69 (0.46–1.03) | 0.068 | 0.80 (0.50–1.29) | 0.355 |
| values * OR adjusted for co-occurrence of visual impairment, sex, age and family history for FECD. | ||||||