XPD codon 751 polymorphism status by cytogenetic abnormality
| . | No. total . | Genotype . | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Lys/Lys . | Lys/Gln . | Gln/Gln . | Lys/Gln+Gln/Gln . | ||||||
| No. (%) . | OR (CI) . | No. (%) . | OR (CI) . | No. (%) . | OR (CI) . | No. (%) . | OR (CI) . | ||
| Monosomy | |||||||||
| Total XPD codon 751 | 100 | 34 (34.0) | 1 | 51 (51.0) | 1.20 (0.73-1.96) | 15 (15.0) | 1.15 (0.58-2.29) | 66 (66.0) | 1.19 (0.74-1.89) |
| −5 | 42 | 15 (35.7) | 1 | 21 (50.0) | 1.11 (0.55-2.24) | 6 (14.3) | 1.05 (0.39-2.86) | 27 (64.3) | 1.10 (0.56-2.14) |
| −7 | 78 | 28 (35.9) | 1 | 39 (50.0) | 1.11 (0.65-1.90) | 11 (14.1) | 1.04 (0.48-2.25) | 50 (64.1) | 1.10 (0.66-1.83) |
| Trisomy | |||||||||
| Total XPD codon 751 | 122 | 46 (37.7) | 1 | 53 (43.4) | 0.94 (0.59-1.48) | 23 (18.9) | 1.26 (0.69-2.29) | 76 (62.3) | 1.01 (0.66-1.55) |
| +8 | 100 | 36 (36.0) | 1 | 44 (44.0) | 0.99 (0.61-1.63) | 20 (20.0) | 1.40 (0.74-2.65) | 64 (64.0) | 1.09 (0.69-1.74) |
| +21 | 22 | 8 (36.4) | 1 | 12 (54.6) | 1.23 (0.49-3.12) | 2 (9.1) | 0.64 (0.13-3.11) | 14 (63.6) | 1.09 (0.44-2.67) |
| +22 | 13 | 2 (15.4) | 1 | 8 (61.5) | 3.61 (0.74-17.58) | 3 (23.1) | 3.89 (0.63-24.17) | 11 (84.6) | 3.68 (0.79-17.10) |
| Translocation | |||||||||
| Total XPD codon 751 | 137 | 57 (41.6) | 1 | 61 (44.5) | 0.89 (0.56-1.39) | 19 (13.9) | 0.77 (0.41-1.48) | 80 (58.4) | 0.86 (0.56-1.31) |
| t(15;17) | 90 | 40 (44.4) | 1 | 37 (41.1) | 0.83 (0.49-1.40) | 13 (14.4) | 0.80 (0.39-1.68) | 50 (55.6) | 0.82 (0.50-1.34) |
| t(8;21) | 47 | 17 (36.2) | 1 | 24 (51.1) | 1.22 (0.61-2.43) | 6 (12.8) | 0.84 (0.30-2.36) | 30 (68.8) | 1.12 (0.58-2.17) |
| Deletion | |||||||||
| Total XPD codon 751 | 128 | 35 (27.3) | 1 | 69 (53.9) | 1.60 (1.01-2.54)* | 24 (18.8) | 1.85 (1.00-2.54)* | 93 (72.7) | 1.65 (1.06-2.58)† |
| del(5q) | 69 | 16 (23.2) | 1 | 36 (52.2) | 1.83 (0.97-3.45) | 17 (24.6) | 2.98 (1.39-6.39)‡ | 53 (76.8) | 2.09 (1.14-3.81)§ |
| del(7q) | 47 | 10 (21.3) | 1 | 28 (59.6) | 2.23 (1.04-4.76)∥ | 9 (19.2) | 2.39 (0.92-6.24) | 37 (78.7) | 2.27 (1.09-4.71)† |
| del(9q) | 22 | 9 (40.9) | 1 | 11 (50.0) | 1.00 (0.40-2.48) | 2 (9.1) | 0.59 (0.12-2.82) | 13 (59.1) | 0.90 (0.37-2.17) |
| Other cytogenetic abnormality | |||||||||
| Normal karyotype | 363 | 139 (38.3) | Reference | 171 (47.1) | Reference | 53 (14.6) | Reference | 224 (61.7) | Reference |
| 3q | 39 | 11 (28.2) | 1 | 21 (53.8) | 1.60 (0.74-3.47) | 7 (18.0) | 1.66 (0.61-4.55) | 28 (71.8) | 1.62 (0.77-3.38) |
| 11q23 | 41 | 19 (46.3) | 1 | 15 (36.6) | 0.67 (0.32-1.38) | 7 (17.1) | 0.94 (0.37-2.40) | 22 (53.7) | 0.74 (0.38-1.42) |
| Inv(16) | 26 | 14 (53.9) | 1 | 10 (38.5) | 0.62 (0.26-1.45) | 2 (7.7) | 0.36 (0.08-1.66) | 12 (46.2) | 0.55 (0.25-1.24) |
| Complex | 112 | 36 (32.1) | 1 | 57 (50.9) | 1.27 (0.79-2.04) | 19 (17.0) | 1.41 (0.74-2.68) | 76 (67.9) | 1.30 (0.83-2.04) |
| Any other | 333 | 115 (34.5) | 1 | 164 (49.3) | 1.16 (0.83-1.60) | 54 (16.2) | 1.22 (0.78-1.92) | 218 (65.5) | 1.17 (0.86-1.60) |
| . | No. total . | Genotype . | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Lys/Lys . | Lys/Gln . | Gln/Gln . | Lys/Gln+Gln/Gln . | ||||||
| No. (%) . | OR (CI) . | No. (%) . | OR (CI) . | No. (%) . | OR (CI) . | No. (%) . | OR (CI) . | ||
| Monosomy | |||||||||
| Total XPD codon 751 | 100 | 34 (34.0) | 1 | 51 (51.0) | 1.20 (0.73-1.96) | 15 (15.0) | 1.15 (0.58-2.29) | 66 (66.0) | 1.19 (0.74-1.89) |
| −5 | 42 | 15 (35.7) | 1 | 21 (50.0) | 1.11 (0.55-2.24) | 6 (14.3) | 1.05 (0.39-2.86) | 27 (64.3) | 1.10 (0.56-2.14) |
| −7 | 78 | 28 (35.9) | 1 | 39 (50.0) | 1.11 (0.65-1.90) | 11 (14.1) | 1.04 (0.48-2.25) | 50 (64.1) | 1.10 (0.66-1.83) |
| Trisomy | |||||||||
| Total XPD codon 751 | 122 | 46 (37.7) | 1 | 53 (43.4) | 0.94 (0.59-1.48) | 23 (18.9) | 1.26 (0.69-2.29) | 76 (62.3) | 1.01 (0.66-1.55) |
| +8 | 100 | 36 (36.0) | 1 | 44 (44.0) | 0.99 (0.61-1.63) | 20 (20.0) | 1.40 (0.74-2.65) | 64 (64.0) | 1.09 (0.69-1.74) |
| +21 | 22 | 8 (36.4) | 1 | 12 (54.6) | 1.23 (0.49-3.12) | 2 (9.1) | 0.64 (0.13-3.11) | 14 (63.6) | 1.09 (0.44-2.67) |
| +22 | 13 | 2 (15.4) | 1 | 8 (61.5) | 3.61 (0.74-17.58) | 3 (23.1) | 3.89 (0.63-24.17) | 11 (84.6) | 3.68 (0.79-17.10) |
| Translocation | |||||||||
| Total XPD codon 751 | 137 | 57 (41.6) | 1 | 61 (44.5) | 0.89 (0.56-1.39) | 19 (13.9) | 0.77 (0.41-1.48) | 80 (58.4) | 0.86 (0.56-1.31) |
| t(15;17) | 90 | 40 (44.4) | 1 | 37 (41.1) | 0.83 (0.49-1.40) | 13 (14.4) | 0.80 (0.39-1.68) | 50 (55.6) | 0.82 (0.50-1.34) |
| t(8;21) | 47 | 17 (36.2) | 1 | 24 (51.1) | 1.22 (0.61-2.43) | 6 (12.8) | 0.84 (0.30-2.36) | 30 (68.8) | 1.12 (0.58-2.17) |
| Deletion | |||||||||
| Total XPD codon 751 | 128 | 35 (27.3) | 1 | 69 (53.9) | 1.60 (1.01-2.54)* | 24 (18.8) | 1.85 (1.00-2.54)* | 93 (72.7) | 1.65 (1.06-2.58)† |
| del(5q) | 69 | 16 (23.2) | 1 | 36 (52.2) | 1.83 (0.97-3.45) | 17 (24.6) | 2.98 (1.39-6.39)‡ | 53 (76.8) | 2.09 (1.14-3.81)§ |
| del(7q) | 47 | 10 (21.3) | 1 | 28 (59.6) | 2.23 (1.04-4.76)∥ | 9 (19.2) | 2.39 (0.92-6.24) | 37 (78.7) | 2.27 (1.09-4.71)† |
| del(9q) | 22 | 9 (40.9) | 1 | 11 (50.0) | 1.00 (0.40-2.48) | 2 (9.1) | 0.59 (0.12-2.82) | 13 (59.1) | 0.90 (0.37-2.17) |
| Other cytogenetic abnormality | |||||||||
| Normal karyotype | 363 | 139 (38.3) | Reference | 171 (47.1) | Reference | 53 (14.6) | Reference | 224 (61.7) | Reference |
| 3q | 39 | 11 (28.2) | 1 | 21 (53.8) | 1.60 (0.74-3.47) | 7 (18.0) | 1.66 (0.61-4.55) | 28 (71.8) | 1.62 (0.77-3.38) |
| 11q23 | 41 | 19 (46.3) | 1 | 15 (36.6) | 0.67 (0.32-1.38) | 7 (17.1) | 0.94 (0.37-2.40) | 22 (53.7) | 0.74 (0.38-1.42) |
| Inv(16) | 26 | 14 (53.9) | 1 | 10 (38.5) | 0.62 (0.26-1.45) | 2 (7.7) | 0.36 (0.08-1.66) | 12 (46.2) | 0.55 (0.25-1.24) |
| Complex | 112 | 36 (32.1) | 1 | 57 (50.9) | 1.27 (0.79-2.04) | 19 (17.0) | 1.41 (0.74-2.68) | 76 (67.9) | 1.30 (0.83-2.04) |
| Any other | 333 | 115 (34.5) | 1 | 164 (49.3) | 1.16 (0.83-1.60) | 54 (16.2) | 1.22 (0.78-1.92) | 218 (65.5) | 1.17 (0.86-1.60) |
A case/case analysis was conducted using subjects with a normal karyotype as the reference group for all comparisons (Lys/Lys, n = 139, 38.3%; Lys/Gln, n = 171, 47.1%; Gln/Gln, n = 53, 14.6%). Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using unconditional logistic regression adjusting for age and sex.
P = .05.
†P = .03.
P = .005.
P = .02.
P = .04.