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 12. 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 central 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) | 33 (0.22) | 0.75 (0.47–1.17) | 0.205 | 0.74 (0.44–1.25) | 0.261 |
| C/G | 240 (0.68) | 109 (0.74) | 1.32 (0.86–2.02) | 0.209 | 1.29 (0.79–2.11) | 0.306 |
| G/G | 15 (0.04) | 6 (0.04) | 0.95 (0.36–2.50) | 0.921 | 1.01 (0.36–2.80) | 0.993 |
| C | 436 (0.62) | 175 (0.59) | 0.81 (0.55–1.19) | 0.287 | 0.81 (0.52–1.25) | 0.336 |
| G | 270 (0.38) | 121 (0.41) | 1.23 (0.84–1.81) | 0.287 | 1.24 (0.80–1.92) | 0.336 |
| c.2285T>C | ||||||
| A/A | 239 (0.68) | 95 (0.64) | 0.85 (0.57–1.28) | 0.446 | 0.89 (0.56–1.41) | 0.621 |
| A/G | 114 (0.32) | 53 (0.36) | 1.17 (0.78–1.75) | 0.446 | 0.12 (0.71–1.79) | 0.621 |
| G/G | 0 (0.00) | 0 (0.00) | – | – | – | – |
| A | 592 (0.84) | 0.82 (1.64) | 0.85 (0.57–1.28) | 0.446 | 0.89 (0.56–1.41) | 0.621 |
| G | 114 (0.16) | 0.18 (0.36) | 1.17 (0.78–1.75) | 0.446 | 0.12 (0.71–1.79) | 0.621 |
| c.–1370T>A | ||||||
| 46 (0.13) | 14 (0.09) | 0.70 (0.37–1.31) | 0.263 | 0.71 (0.35–1.44) | 0.338 | |
| A/T | 203 (0.57) | 91 (0.61) | 1.18 (0.80–1.74) | 0.409 | 1.36 (0.86–2.15) | 0.183 |
| T/T | 104 (0.30) | 43 (0.29) | 0.98 (0.64–1.49) | 0.927 | 0.83 (0.51–1.35) | 0.459 |
| A | 295 (0.42) | 119 (0.40) | 0.92 (0.67–1.26) | 0.602 | 1.01 (0.71–1.43) | 0.970 |
| T | 411 (0.58) | 177 (0.60) | 1.09 (0.079–1.48) | 0.602 | 0.99 (0.70–1.41) | 0.970 |
| c.580C>T | ||||||
| C/C | 305 (0.86) | 131 (0.89) | 1.21 (0.67–2.19) | 0.522 | 1.10 (0.55–2.19) | 0.784 |
| C/T | 48 (0.14) | 17 (0.11) | 0.82 (0.46–1.49) | 0.522 | 0.91 (0.46–1.81) | 0.784 |
| T/T | 0 (0.00) | 0 (0.00) | – | – | – | – |
| C | 653 (0.92) | 277 (0.94) | 1.20 (0.68–2.11) | 0.527 | 1.05 (0.54–2.03) | 0.888 |
| T | 53 (0.08) | 19 (0.06) | 0.83 (0.47–1.46) | 0.527 | 0.95 (0.49–1.85) | 0.888 |
| c.1196A>G | ||||||
| A/A | 72 (0.20) | 42 (0.28) | 1.55 (0.99–2.40) | 0.053 | 1.44 (0.87–2.39) | 0.154 |
| 218 (0.62) | 83 (0.56) | 0.79 (0.54–1.17) | 0.237 | 0.82 (0.52–1.29) | 0.396 | |
| G/G | 63 (0.18) | 23 (0.16) | 0.85 (0.50–1.43) | 0.533 | 0.84 (0.45–1.58) | 0.590 |
| A | 362 (0.51) | 167 (0.56) | 1.30 (0.95–1.77) | 0.096 | 1.31 (0.93–1.84) | 0.127 |
| G | 344 (0.49) | 129 (0.44) | 0.77 (0.57–1.05) | 0.096 | 0.79 (0.55–1.13) | 0.196 |
| values * OR adjusted for co-occurrence of visual impairment, sex, age and family history for FECD. | ||||||