Table 2. Genetic susceptibility publications in childhood leukaemia involving genes related to DNA repair.
| Continent | Country | Leukaemia subtype | Numberof cases/controls | Ages of cases(years) | Investigated genes | Significant results | First author, year | Reference | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Genetic variation | OR (95% CI) | P-value | ||||||||
| Europe | Poland | ALL | 270/6984 | mean6.65 | NBN | NBN 657del5 carriers | 1.85 (1.42–2.65) | 0.035 | Chrzanowska, 2006 | [76] |
| Poland | ALL | 398/731 | med. 4.9 | NBN | NBN 657-wt/del5 NBN 657-del5/del5 | 3.01 (2.42–3.85) 1325.21 (859.84–2167.90) |
0.004 0.003 |
Pastorczak, 2011 | [77] | |
| Poland | ALL | 97/131 | mean5.4 | OGG1, MUTYH, XRCC1 |
OGG1 326-Ser/Ser OGG1 326-Cys/Cys OGG1 326-Cys XRCC1 399-Arg/Arg + OGG1 326-Ser/Ser XRCC1 399-Arg/Gln + OGG1 326-Cys/Cys OGG1 326-Ser/Ser + MUTYH 165-Tyr/Tyr OGG1 326-Cys/Cys + MUTYH 165-Tyr/Tyr |
0.45 (0.26–0.76) 5.36 (1.90–15.09) 2.33 (1.53–3.55) 0.40 (0.19–0.83) 3.83 (1.00–14.86) 0.43 (0.25–0.73) 6.75 (2.19–20.77) |
0.003 0.001 <0.001 0.013 0.050 0.001 <0.001 |
Stanczyk, 2011 | [74] | |
| Turkey | Pre-B ALL | 52/60 | mean5.9 | XRCC1, ERCC2 | No significant associations were found. | – | – | Celkan, 2008 | [69] | |
| Turkey | ALL | 70/75 | ≤15 | XRCC1, ERCC2 | XRCC1 codon 194-Arg/Trp + Trp/Trp in girls | 5.47 (1.49–20.10) | 0.008 | Batar, 2009 | [67] | |
| Turkey | ALL | 167/190 | 1.5–15.5 | XRCC1(+ CYP2E1) |
XRCC1 codon 399-Arg/Gln +Gln/Gln XRCC1 codon 399-Arg/Gln +Gln/Gln in girls XRCC1 codon 399-Gln + CYP2E1*5B-*6 XRCC1 codon 399-Gln +CYP2E1*5B-*6 in girls |
1.60 (1.00–2.40) 2.10 (1.10–3.90) 3.70 (NA) 17.40 (1.90–153.70) |
0.040 0.020 0.049 0.001 |
Tumer, 2010 | [75] | |
| Asia | India | ALL | 117/117 | ≤14 | XRCC1 |
XRCC1 codon 399-Gln/Gln XRCC1 codon 399-Arg/Gln XRCC1 codons 194-Trp + 399Gln |
2.42 (1.00–5.89) 1.90 (1.08–3.35) 4.41 (1.83–10.61) |
0.050 0.030 0.009 |
Joseph, 2005 | [71] |
| China | ALL | 183/190 | ≤18 | ERCC1 |
ERCC1 8092-CC ERCC1 8092-CC in boys ERCC1 19007-GG in boys ERCC1 8092-CC in children <8 years of age |
1.61 (1.03–2.50) 1.94 (1.09–3.41) 2.36 (1.05–5.27) 1.87 (1.04–3.37) |
0.030 0.020 0.040 0.040 |
Wang, 2006 | [80] | |
| China | ALL | 415/511 | 1–18 | OGG1 | OGG1 326-Ser/Ser +Ser/Cys | 0.66 (0.49–0.88) | 0.005 | Li, 2011 | [79] | |
| Thailand | ALL | 108/317 | ≤14 | XRCC1,ERCC2 |
XRCC1 codon 194-Trp/Trp XRCC1 codon 399-Arg/Gln +Gln/Gln XRCC1 haplotype B(194Trp-280Arg-399Arg) XRCC1 haplotype C(194Arg-280Arg-399Gln) |
0.22 (0.05–0.96) 2.18 (1.39–3.42) 0.62 (0.42–0.90) 1.59 (1.14–2.23) |
0.030 0.001 0.010 0.008 |
Pakakasama, 2007 | [73] | |
| Taiwan | ALL, AML | 266/266 | <18 | XRCC4 |
XRCC4 rs6869366rs28360071: TT/DD XRCC4 rs6869366rs28360071: GT/II XRCC4 rs6869366rs28360071: GT/ID XRCC4 rs6869366rs28360071: GT/DD |
2.82 (1.03–7.70) 2.16 (1.29–3.61) 2.26 (1.22–4.17) 4.94 (1.01–24.27) |
0.048 0.003 0.009 0.040 |
Wu, 2010 | [81] | |
| North America | Canada | ALL | 287/320 | med. 5 | MLH1, MSH3(+ GSTM1, CYP1A1, CYP2E1, NQO1, NAT2) |
MLH1 219-Ile/Ile + CYP2E1*5 (–/+, +/+) MLH1 219-Ile/Ile + GSTM1-null + CYP1A1*2A (–/+, +/+) |
15.80 (2.00–122.60) 6.00 (1.90–18.90) |
<0.001 0.002 |
Mathonnet, 2003 | [78] |
| Mexico(Hispanics) | ALL | 120/120 | ≤14 | XRCC1 |
XRCC1 haplotype B(194Trp-280Arg-399Arg) XRCC1 haplotype B(194Trp-280Arg-399Arg) in boys |
1.95 (1.13–3.37) 2.65 (1.25–5.63) |
0.016 0.010 |
Meza-Espinoza, 2009 | [72] | |
| United States (Caucasians) | ALL | 163/251 | <21 | MLH1, MSH2, MSH3 | No significant associations were found. | – | – | Beuten, 2011 | [21] | |
| United States (Hispanics/non-Hispanics) | ALL | 335/490 | mean 5.5 mean 5.6 | Haplotypes of 32 genes(21 genes related to DNA repair systemsa) |
ERCC2 (rs3916874,rs238416, rs171140) GAA APEX1 (rs11160711, rs3120073) AA in non-Hispanics BRCA2 (rs4942448,rs9943876) GA in non-Hispanics RAD51 (rs2304579,rs7177265, rs2304580) AAA in Hispanics RAD51 (rs2304579,rs7177265, rs2304580) AGA in Hispanics NBN (rs12680687, rs6470522, rs7840099, rs1805812,rs709816) rare haplotypes in ALL with t (12; 21) XRCC4 (rs7711825, rs1193695, rs301276, rs301287, rs3777018)CGAGA in ALL with t (12; 21) XRCC4 (rs7711825, rs1193695, rs301276, rs301287, rs3777018) CGGGA in ALL with t (12; 21) XRCC4 (rs1193695, rs301276, rs301287) GAG in ALL with any structural change XRCC4 (rs1193695, rs301276, rs301287) GGGin ALL with any structural change |
0.59 (0.38–0.91) 1.90 (1.25–2.89) 1.77 (1.10–2.85) 1.55 (1.01–2.42) 1.51 (1.01–2.26) 0.38 (0.16–0.88) 0.56 (0.31–1.00) 0.39 (0.16–0.95) 0.60 (0.42–0.86) 0.55 (0.35–0.88) |
0.018 0.003 0.020 0.050 0.040 0.025 0.050 0.039 0.006 0.012 |
Chokkalingam, 2011 | [70] | |
| South America | Brazil (Whites/non-Whites) | ALL | 206/364 | 0.3–18 | XRCC1, ERCC2 (+ TYMS) |
TYMS 2R/3R; 3R/3R + XRCC1 194-Arg/Arg + XRCC1 399-Arg/Gln; Gln/Gln TYMS 2R/3R; 3R/3R + XRCC1 194-Arg/Arg + XRCC1 399-Arg/Gln; Gln/Gln + ERCC2 751-Lys/Gln; Gln/Gln |
0.25 (0.08–0.76) 0.25 (0.08–0.76) |
0.005 0.005 |
Canalle, 2011 | [68] |
med.: median of age. ALL: acute lymphoblastic leukaemia. AML: acute myeloid leukaemia. OR: odds ratio. 95%CI: 95% confidence interval.
a
APEX1, MUTYH, UNG2, XRCC1, ERCC2, LIG4, PRKDC, XRCC4, XRCC5, XRCC6, BRCA1, BRCA2, MRE11, NBN, RAD50, RAD51, RAD54B, RAD54L, XRCC2, XRCC3 and MGMT.