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 13. 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 undefined 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) | 6 (0.22) | 0.61 (0.20–1.83) | 0.379 | 0.61 (0.20–1.83) | 0.379 |
| C/G | 240 (0.68) | 20 (0.74) | 1.34 (0.55–3.27) | 0.513 | 1.66 (0.60–4.62) | 0.331 |
| G/G | 15 (0.04) | 1 (0.04) | 0.86 (0.11–6.82) | 0.892 | 0.73 (0.08–6.34) | 0.773 |
| C | 436 (0.62) | 32 (0.59) | 0.82 (0.38–1.79) | 0.625 | 0.76 (0.32–1.79) | 0.532 |
| G | 270 (0.38) | 22 (0.41) | 1.21 (0.56–2.63) | 0.625 | 0.31 (0.56–3.07) | 0.532 |
| c.2285T>C | ||||||
| A/A | 239 (0.68) | 22 (0.81) | 2.10 (0.77–5.68) | 0.145 | 2.65 (0.85–8.30) | 0.093 |
| A/G | 114 (0.32) | 5 (0.19) | 0.48 (0.18–1.29) | 0.145 | 0.38 (0.12–1.18) | 0.093 |
| G/G | 0 (0.00) | 0 (0.00) | – | – | – | – |
| A | 592 (0.84) | 49 (0.91) | 2.10 (0.77–5.68) | 0.145 | 2.65 (0.85–8.30) | 0.093 |
| G | 114 (0.16) | 5 (0.09) | 0.48 (0.18–1.29) | 0.145 | 0.38 (0.12–1.18) | 0.093 |
| c.–1370T>A | ||||||
| A/A | 46 (0.13) | 6 (0.22) | 1.91 (0.73–4.97) | 0.187 | 1.63 (0.544–4.88) | 0.382 |
| A/T | 203 (0.57) | 14 (0.52) | 0.80 (0.36–1.74) | 0.568 | 1.34 (0.55–3.29) | 0.519 |
| T/T | 104 (0.30) | 7 (0.26) | 0.84 (0.34–2.04) | 0.697 | 0.47 (0.16–1.40) | 0.178 |
| A | 295 (0.42) | 26 (0.48) | 1.37 (0.74–2.52) | 0.318 | 1.61 (0.83–3.13) | 0.156 |
| T | 411 (0.58) | 28 (0.52) | 0.62 (0.32–1.20) | 0.156 | 0.62 (0.32–1.20) | 0.156 |
| c.580C>T | ||||||
| C/C | 305 (0.86) | 25 (0.93) | 1.97 (0.45–8.57) | 0.368 | 1.38 (0.29–6.43) | 0.678 |
| C/T | 48 (0.14) | 2 (0.07) | 0.51 (0.12–2.21) | 0.368 | 0.72 (0.15–3.36) | 0.678 |
| T/T | 0 (0.00) | 0 (0.00) | – | – | – | – |
| C | 653 (0.92) | 52 (0.96) | 2.21 (0.51–9.60) | 0.291 | 1.40 (0.30–6.49) | 0.668 |
| T | 53 (0.08) | 2 (0.04) | 0.45 (0.10–1.97) | 0.291 | 0.71 (0.15–3.31) | 0.668 |
| c.1196A>G | ||||||
| A/A | 72 (0.20) | 10 (0.37) | ||||
| A/G | 218 (0.62) | 15 (0.56) | 0.77 (0.35 0 1.70) | 0.525 | 0.58 (0.24–1.41) | 0.228 |
| G/G | 63 (0.18) | 2 (0.07) | 0.39 (0.08–1.59) | 0.182 | 0.29 (0.03–2.25) | 0.235 |
| A | 362 (0.51) | 35 (0.65) | ||||
| G | 344 (0.49) | 19 (0.35) | ||||
| values * OR adjusted for co-occurrence of visual impairment, sex, age and family history for FECD. | ||||||