Table III.
Association between haplotypes in blocks 9, 10, 11 and 12 of RAD51L1 and mutagen sensitivity
| Blocks | Haplotypea | All cases |
Comparisonb |
||||
| n (%) | Estimated B/C, mean (SD) | P-value | Percent non-sensitive/sensitive | OR (95% CI) | Global test, Pc | ||
| Block 9 | 0.13 | ||||||
| 9-A (GGAATT) | 124 (29.1) | 0.56 (0.61) | <0.0001 | 29.1/29.1 | Reference | ||
| 9-B (GGGACC) | 99 (23.3) | 0.55 (0.63) | 22.9/23.7 | 1.00 (0.69–1.44) | |||
| 9-C (AGAGCC) | 89 (21.1) | 0.74 (0.62) | 23.6/18.7 | 1.32 (0.93–1.90) | |||
| 9-D (GGAGCC) | 67 (15.7) | 0.40 (0.65) | 12.8/18.2 | 0.70 (0.46–0.06) | |||
| 9-E (GAAACT) | 41 (9.7) | 0.42 (0.68) | 10.3/9.0 | 1.21 (0.73–1.99) | |||
| Block 10 | 0.12 | ||||||
| 10-A (TTGT) | 122 (28.6) | 0.57 (0.62) | <0.0001 | 28.3/28.8 | Reference | ||
| 10-B (TCGT) | 105 (24.6) | 0.56 (0.63) | 24.6/24.6 | 1.07 (0.74–1.54) | |||
| 10-C (GTAT) | 95 (22.3) | 0.72 (0.62) | 24.4/20.5 | 1.27 (0.89–0.79) | |||
| 10-D (TCGC) | 62 (14.5) | 0.44 (0.67) | 12.1/16.7 | 0.74 (0.48–1.14) | |||
| 10-E (TTAT) | 42 (9.8) | 0.40 (0.68) | 10.6/9.1 | 1.23 (0.74–2.04) | |||
| Block 11 | 0.15 | ||||||
| 11-A (GGT) | 224 (52.7) | 0.57 (0.40) | <0.0001 | 554/50.2 | Reference | ||
| 11-B (GAC) | 84 (19.8) | 0.47 (0.66) | 17.0/22.3 | 0.66 (0.45–0.97) | |||
| 11-C (TGC) | 76 (17.9) | 0.52 (0.63) | 17.2/18.5 | 0.84 (0.58–1.20) | |||
| 11-D (GGC) | 41 (9.6) | 0.42 (0.69) | 10.3/9.0 | 1.05 (0.65–1.71) | |||
| Block 12 | 0.042 | ||||||
| 12-A (CGA) | 179 (42.1) | 0.44 (0.62) | <0.0001 | 37.6/46.1 | Reference | ||
| 12-B (CAG) | 159 (37.5) | 0.61 (0.60) | 40.8/34.4 | 1.51 (1.10–2.08) | |||
| 12-C (CAA) | 60 (14.1) | 0.71 (0.68) | 15.6/12.9 | 1.62 (1.05–2.47) | |||
| 12-D (TAG) | 25 (6.2) | 0.50 (0.70) | 5.3/6.3 | 1.10 (0.59–2.07) | |||
| Block free | |||||||
| F-A (GTCGAA) | 110 (25.5) | 0.42 (0.69) | <0.0001 | 30.5/20.6 | Reference | 0.022 | |
| F-B (GTCGAG) | 31 (7.2) | 0.48 (0.73) | 6.6/7.6 | 1.86 (0.98–3.54) | |||
| F-C (GTTAAG) | 30 (6.7) | 0.83 (0.73) | 5.5/8.3 | 2.35 (1.18–4.66) | |||
| F-D (GTTAGG) | 104 (24.3) | 0.57 (0.67) | 23.2/25.9 | 1.70 (1.09–2.66) | |||
| F-E (AGTAGG) | 42 (9.9) | 0.93 (0.80) | 8.4/11.5 | 2.19 (1.24–3.88) | |||
| No. of adverse haplotypes | |||||||
| 0 | 110 (25.5) | 0.42 (0.69) | 0.001 | 30.5/20.6 | Reference | 0.0061 | |
| 1–2 | 73 (17.2) | 0.57 (0.74) | 9.5/10.1 | 1.87 (1.05–3.62) | |||
| 3–4 | 172 (40.3) | 0.70 (0.78) | 37.3/43.1 | 1.94 (1.18–2.65) | |||
| 5–6 | 55 (12.6) | 0.92 (0.81) | 11.9/13.7 | 2.28 (1.19–3.99) | |||
Loci chosen for block 9: rs2256608, rs10483814, rs4899246, rs963918, rs963917 and rs10136316; Block 10: rs2064827, rs2145157, rs12878344 and rs17105965; Block 11: rs2331779, rs2331780 and rs12432197; Block 12: rs10438159, rs12893578 and rs4902623; block free: rs2256608, rs2064827, rs12432197, rs12893578, rs4902623 and rs2180611.
a
Haplotypes with frequency <0.05 were excluded from the analysis.
b
Dichotomized at the median of B/C (0.48), analysis adjusted by age and sex.
c
Generated by 10 000 permutation test.