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 10. 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 stratified by sex in patients with Fuchs endothelial corneal dystrophy (FECD) and controls.
| Polymorphism genotype/allele | Controls | FECD | Crude OR (95% CI) | p | Adjusted OR* (95% CI) | p |
|---|---|---|---|---|---|---|
| Number (frequency) | ||||||
| g.46438521G>C | ||||||
| Women | ||||||
| C/C | 60 (0.27) | 43 (0.22) | 0.79 (0.50–1.24) | 0.302 | 0.67 (0.40–1.13) | 0.136 |
| C/G | 153 (0.68) | 142 (0.74) | 1.32 (0.86–2.02) | 0.206 | 1.48 (0.91–2.42) | 0.114 |
| G/G | 11 (0.05) | 7 (0.04) | 0.73 (0.28–1.93) | 0.529 | 0.82 (0.28–2.40) | 0.713 |
| C | 273 (0.61) | 228 (0.59) | 0.88 (0.60–1.30) | 0.525 | 0.77 (0.50–1.20) | 0.256 |
| G | 175 (0.39) | 156 (0.41) | 1.13 (0.77–1.67) | 0.525 | 1.29 (0.83–2.01) | 0.256 |
| Men | ||||||
| C/C | 38 (0.29) | 10 (0.17) | 0.50 (0.33–1.09) | 0.080 | 0.66 (0.27–1.62) | 0.364 |
| C/G | 87 (0.67) | 46 (0.79) | 1.85 (0.89–3.86) | 0.100 | 1.60 (0.69–3.76) | 0.282 |
| G/G | 4 (0.03) | 2 (0.03) | 1.12 (0.20–6.27) | 0.901 | 0.54 (0.09–3.41) | 0.516 |
| C | 163 (0.63) | 66 (0.57) | 0.58 (0.30–1.12) | 0.107 | 0.80 (0.38–1.69) | 0.557 |
| G | 95 (0.37) | 50 (0.43) | 1.73 (0.89–3.37) | 0.107 | 1.25 (0.59–2.64) | 0.557 |
| c.2285T>C | ||||||
| Women | ||||||
| A/A | 157 (0.70) | 125 (0.65) | 0.80 (0.53–1.20) | 0.278 | 0.95 (0.59–1.52) | 0.836 |
| A/G | 67 (0.30) | 67 (0.35) | 1.25 (0.83–1.90) | 0.278 | 1.05 (0.66–1.67) | 0.836 |
| G/G | 0 (0.00) | 0 (0.00) | – | – | – | – |
| A | 381 (0.85) | 317 (0.83) | 0.80 (0.53–1.20) | 0.278 | 0.95 (0.59–1.52) | 0.836 |
| G | 67 (0.15) | 67 (0.17) | 1.25 (0.83–1.90) | 0.278 | 1.05 (0.66–1.67) | 0.836 |
| Men | ||||||
| A/A | 82 (0.64) | 41 (0.71) | 1.27 (0.65–2.49) | 0.479 | 1.60 (0.72–3.53) | 0.245 |
| A/G | 47 (0.36) | 17 (0.29) | 0.78 (0.40–1.53) | 0.479 | 0.62 (0.28–1.38) | 0.245 |
| G/G | 0 (0.00) | 0 (0.00) | – | – | – | – |
| A | 211 (0.82) | 99 (0.85) | 1.27 (0.65–2.49) | 0.479 | 1.60 (0.72–3.53) | 0.245 |
| G | 47 (0.18) | 17 (0.15) | 0.78 (0.40–1.53) | 0.479 | 0.62 (0.28–1.38) | 0.245 |
| c.–1370T>A | ||||||
| Women | ||||||
| A/A | 30 (0.13) | 30 (0.16) | 1.19 (0.69–2.07) | 0.519 | 1.16 (0.62–2.14) | 0.645 |
| A/T | 125 (0.56) | 108 (0.56) | 1.02 (0.69–1.50) | 0.927 | 1.25 (0.81–1.95) | 0.316 |
| T/T | 69 (0.31) | 54 (0.28) | 0.88 (0.57–1.34) | 0.551 | 0.70 (0.43–1.13) | 0.146 |
| A | 185 (0.41) | 168 (0.44) | 1.12 (0.83–1.52) | 0.440 | 1.25 (0.89–1.76) | 0.200 |
| T | 263 (0.59) | 216 (0.56) | 0.89 (0.66–1.20) | 0.440 | 0.80 (0.57–1.13) | 0.200 |
| Men | ||||||
| A/A | 16 (0.12) | 5 (0.09) | 0.67 (0.23–1.91) | 0.451 | 0.84 (0.26–2.67) | 0.770 |
| A/T | 78 (0.60) | 36 (0.62) | 1.07 (0.57–2.02) | 0.835 | 1.38 (0.65–2.92) | 0.406 |
| T/T | 35 (0.27) | 17 (0.29) | 1.11 (0.56–2.21) | 0.758 | 9.75 (0.33–1.70) | 0.492 |
| A | 110 (0.43) | 46 (0.40) | 0.85 (0.51–1.42) | 0.532 | 1.11 (0.62–2.00) | 0.724 |
| T | 148 (0.57) | 70 (0.60) | 1.18 (0.79–1.98) | 0.532 | 0.90 (0.50–1.62) | 0.724 |
| c.580C>T | ||||||
| Women | ||||||
| C/C | 198 (0.88) | 169 (0.88) | 0.96 (0.53–1.75) | 0.907 | 1.03 (0.53–1.98) | 0.937 |
| C/T | 26 (0.12) | 23 (0.12) | 1.04 (0.57–1.88) | 0.907 | 0.97 (0.50–1.87) | 0.937 |
| T/T | 0 (0.00) | 0 (0.00) | – | – | – | – |
| C | 418 (0.93) | 357 (0.93) | 0.94 (0.54–1.65) | 0.843 | 0.89 (0.48–1.65) | 0.704 |
| T | 30 (0.07) | 27 (0.07) | 1.06 (0.60–1.85) | 0.843 | 1.13 (0.61–2.09) | 0.704 |
| Men | ||||||
| C/C | 107 (0.83) | 54 (0.93) | 2.78 (0.91–8.46) | 0.073 | 1.56 (0.35–6.88) | 0.557 |
| C/T | 22 (0.17) | 4 (0.07) | 0.36 (0.12–1.10) | 0.073 | 0.64 (0.145–2.83) | 0.557 |
| T/T | 0 (0.00) | 0 (0.00) | – | – | – | – |
| C | 235 (0.91) | 111 (0.96) | 2.30 (0.83–6.39) | 0.110 | 1.53 (0.36–6.53) | 0.564 |
| T | 23 (0.09) | 5 (0.04) | 0.43 (0.16–1.21) | 0.110 | 0.65 (0.15–2.78) | 0.564 |
| c.1196A>G | ||||||
| Women | ||||||
| A/A | 50 (0.22) | 54 (0.28) | 1.36 (0.87–2.12) | 0.174 | 1.39 (0.84–2.28) | 0.200 |
| A/G | 137 (0.61) | 112 (0.58) | 0.89 (0.60–1.32) | 0.558 | 0.82 (0.53–1.28) | 0.391 |
| G/G | 37 (0.17) | 26 (0.14) | 0.79 (0.46–1.36) | 0.399 | 0.89 (0.48–1.64) | 0.702 |
| A | 237 (0.53) | 220 (0.57) | 1.25 (0.91–1.71) | 0.155 | 1.22 (0.86–1.73) | 0.267 |
| G | 211 (0.47) | 164 (0.43) | 0.80 (0.59–1.09) | 0.155 | 0.82 (0.58–1.16) | 0.267 |
| Men | ||||||
| A/A | 22 (0.17) | 20 (0.34) | ||||
| A/G | 81 (0.63) | 31 (0.53) | 0.68 (0.36–1.27) | 0.229 | 0.79 (0.37–1.66) | 0.532 |
| G/G | 26 (0.20) | 7 (0.12) | 0.54 (0.22–1.34) | 0.184 | 0.38 (0.11–1.34) | 0.133 |
| A | 125 (0.48) | 71 (0.61) | ||||
| G | 133 (0.52) | 45 (0.39) | ||||
| values * OR adjusted for co-occurrence of visual impairment, sex, age and family history for FECD. | ||||||