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Table 2 Associations of SNPs with second primary cancer risk in sixteen cohort studies included in systematic review

From: Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis

SNP Gene Chromosome First author, year [ref] Genotype Number of patients (%) HR LCI UCI
G4C14-to-A4T14 (rs2273953 and rs1801173) p73 1 Li F, 2009 [37] GC/GC 741 (57.7) 1 (ref.)   
GC/AT 484 (37.7) 0.61 0.40 0.93
AT/AT 59 (4.6) 0.44 0.14 1.41
GC/AT + AT/AT 543 (42.3) 0.59 0.39 0.89
Zhang Y, 2012 [27] GA + AA 530 (41.8) 1 (ref.)   
GG 739 (58.2) 1.68 1.12 2.52
GST-M1 GST 1 Zafereo, 2009 [40] Wild-type 601 (49.6) 1   
Null 610 (50.4) 1.4 0.9 2.0
Azad AK, 2012a [33] N/A N/A Absent 274 (52.0); Present 255 (48.0) 1.13 0.78 1.66
Minard CG, 2007 [34] Nonnull 154 (50.8) 1   
Null 149 (49.2) 1.99 1.11 3.56
GSTM1 + GSTT1 GST 1 Zafereo, 2009 [40] M1 Wild and T1 Wild 470 (38.8) 1   
Either M1 Null or T1 Null 621 (51.3) 1.3 0.8 1.9
M1 Null and T1 Null 120 (9.9) 1.6 0.9 3.1
GSTP1_114 GST 1 Zafereo, 2009 [40] Ala/Ala 1021 (84.4) 1   
Ala/Val + Val/Val 189 (15.6) 0.8 0.5 1.5
GST-T1 GST 1 Minard CG, 2006 [34] Nonnull 249 (82.2) 1   
Null 54 (17.8) 0.59 0.25 1.41
Zafereo, 2009 [40] Wild-type 960 (79.3) 1   
Null 251 (20.7) 1.1 0.7 1.8
Azad AK, 2012a [33] N/A N/A Absent 103 (19.0); Present 427 (81.0) 0.95 0.6 1.51
Leu84Phe MGMT 10 Gal TJ, 2005 [28] 84 AnyPhe 55 (20.1) 0.53 0.28 1.02
rs1042522 P53 17 Azad AK, 2012a [33] Arg72Pro C > G CC 302 (57.0);
CG 196 (37.0);
GG 32 (6.0)
0.78 0.56 1.09
Jin L, 2013 [32] WW 661 (51.5) 1   
WP/PP 622 (48.5) 1.6 1.1 2.4
Li F, 2010 [23] Arg/Arg (ref) 657 (51.7) 1.00   
Arg/Pro 490 (38.5) 1.75 1.17 2.62
Pro/Pro 124 (9.8) 0.93 0.44 1.95
Arg/Pro+Pro/Pro 614 (48.3) 1.58 1.07 2.34
Zhang Y, 2012 [27] WW 655 (51.6) 1   
WP + PP 614 (48.4) 1.58 1.07 2.34
rs1047768 ERCC5 13 Azad AK, 2012a [33] C581T T > C CC 200 (38.0);
CT 256 (48.0);
TT 72 (14.0)
1.08 0.82 1.41
p21 C70T
(rs1059234)
p21 6 Lei D, 2010 [43] CC 1102 (86.0) 1   
CT 164 (12.8) 1.92 1.21 3.05
TT 16 (1.2) 1.06 0.26 4.42
CT + TT 180 (14.0) 1.82 1.16 2.85
Wang Z, 2012 [30] CC (Ref.c) 706 (54.6) 1   
CT + TT 586 (45.4) 1.7 1.1 2.7
rs10900598 MDM4 1 Jin L, 2013 [32] GT/TT 883 (68.8) 1   
GG 400 (31.2) 1.4 1.0 2.1
rs10901431 MMP21 10 Lee JJ, 2011 [35] dominant (common genotype model) NR 1.96 1.19 3.33
rs11101992 GSTM5 1 Lee JJ, 2011 [35] dominant (common genotype model) NR 2.00 1.23 3.33
rs11244664 BCCIP 10 Lee JJ, 2011 [35] additive (common genotype model) NR 1.67 1.16 2.38
rs11602501 TNKS1BP1 11 Lee JJ, 2011 [35] dominant (common genotype model) NR 1.96 1.19 3.23
rs11801299 MDM4 1 Jin L, 2013 [32] GG 835 (65.1) 1   
AG/AA 448 (34.9) 1.1 0.7 1.5
rs12137934 RAD54L 1 Lee JJ, 2011 [35] additive NR 1.85 1.23 2.78
rs1229984 ADH1B 4 Leoncini E, 2015 [41] GG NR 1   
GG/GT NR 0.58 0.28 1.20
rs1243872 CA9 9 Lee JJ, 2011 [35] dominant (common genotype model) NR 1.92 1.19 3.13
Lys 751 Gln (rs13181) XPD (ERCC2) 19 Gal TJ, 2005 [28] Gln/Gln 37 (13.4) 0.74 0.32 1.72
Lys/Gln 127 (46.0) 1.19 0.73 1.94
AnyGln 164 (59.4) 1.09 0.68 1.73
Azad AK, 2012a [33] Lys751Gln A > C TT 241 (45);
TG 232 (44);
GG 57 (11)
0.91 0.69 1.20
Zafereo, 2009 [39] Lys/Lys and Lys/Gln 1126 (88.0) 1   
Gln/Gln 154 (12.0) 1.1 0.6 1.9
rs1380576 MDM4 1 Jin L, 2013 [32] CC 547 (42.6) 1   
CG/GG 736 (57.4) 1.1 0.8 1.6
rs1410280 CDK8 13 Lee JJ, 2011 [35] dominant (common genotype model) NR 4.35 1.49 12.50
rs1573496 ADH7 4 Leoncini E, 2015 [41] CC NR 1   
CG/GG NR 1.25 0.75 2.08
GSTP1_105 (rs1695) GST 1 Zafereo, 2009 [40] Ile/Ile 484 (40.1) 1   
Ile/Val + Val/Val 723 (59.9) 1.7 1.1 2.5
His1104Asp (rs17655) ERCC5 (XPG) 13 Azad AK, 2012a [33] His1104Asp G > C CC 200 (38);
CT 256 (48);
TT 72 (14)
0.94 0.69 1.28
Zafereo, 2009 [39] His/His and His/Asp 819 (95.6) 1   
Asp/Asp 38 (4.4) 1.1 0.4 2.6
Asp312Asn (rs1799793) XPD (ERCC2) 19 Azad AK, 2012a [33] Asp312Asn G > A GG 243 (46);
GA 231 (44);
AA 54 (10)
1.05 0.80 1.40
Zafereo, 2009 [39] Asp/Asp and Asp/Asn 1086 (87.2) 1   
Asn/Asn 160 (12.8) 0.7 0.4 1.4
Ala499Val (rs2228000) XPC 3 Zafereo. 2009 [39] Ala/Ala and Ala/Val 757 (90.2) 1   
Val/Val 82 (9.8) 0.7 0.4 1.4
rs1799801 ERCC4 16 Azad AK, 2012a [33] T2505C T > C TT 255 (48);
TC 226 (43);
CC 47 (9)
1.05 0.79 1.39
FAS -670A > G (rs1800682) FAS 10 Lei D, 2010 [25] AA 333 (25.9) 1   
AG + GG 953 (74.1) 1.57 1.00 2.54
AA ref. (OPC) 7 1.0   
AG + GG (OPC) 35 2.2 0.9 5.3
Sun Y, 2016 [29] AA ref. (non_OPC) 13 1.0   
AG + GG (non_OPC) 69 2.4 1.1 5.1
rs1800975 (G23A) XPA 9 Azad AK, 2012a [33] 50UTR A > G GG 209 (40);
GA 262 (50);
AA 58 (10)
1.08 0.81 1.44
Zafereo, 2009 [39] GG + GA 767 (86.3) 1   
AA 122 (13.7) 0.7 0.4 1.3
P21 C98A (rs1801270) P21 6 Wang Z, 2012 [30] CC (Ref.c) 1.105 (85.5) 1   
CA + AA 187 (14.5) 1.7 1.1 2.6
Lei D, 2010 [43] CC 1095 (85.4) 1   
CA 168 (13.1) 1.81 1.14 2.87
CA + AA 19 (1.5) 1.8 1.14 2.82
AA 187 (14.6) 1.71 0.41 7.03
rs1887427 JAK2 9 Lee JJ, 2011 [35] dominant (common genotype model) NR 2.33 1.41 3.85
P27 T109G (rs2066827) P27 12 Wang Z, 2012 [30] TT (Ref.c) 706 (54.6) 1   
TG + GG 586 (45.4) 2.0 1.5 3.1
Lys939Gln (rs2228000) XPC 3 Zafereo, 2009 [39] Lys/Lys and Lys/Gln 821 (85.6) 1   
Gln/Gln 138 (14.4) 0.9 0.5 1.5
rs2233913 SLC31A1 9 Lee JJ 2011 [35] dominant (common genotype model) NR 3.03 1.39 6.67
FAS −1377 (G > A) (rs2234767) FAS 10 Lei D, 2010 [25] GG 1.023 (79.6) 1   
GA + AA 263 (20.4) 0.87 0.56 1.36
GG ref. (OPC-HNC) 34 1.0   
AG + AA (OPC-HNC) 8 0.8 0.4 1.9
Sun Y, 2016 [29] GG ref. (non-OPC-HNC) 64 1.0   
AG + AA (non-OPC-HNC) 18 1.0 0.5 1.8
rs2273953 p73 1 Jin L, 2013 [32] GA/AA 746 (58.1) 1   
GG 537 (41.9) 1.5 1.0 2.2
rs2274471 JAK2 9 Lee JJ, 2011 [35] additive NR 1.79 1.18 2.70
rs2279744 MDM2 12 Jin L, 2013 [32] TT 741 (57.7) 1   
GT/GG 542 (42.3) 1.9 1.2 2.7
rs2303426 MSH2 2 Azad AK, 2012a [33] C211þ9G G > C CC 214 (41);
GC 251 (48);
GG 56 (11)
0.89 0.67 1.19
Val143Ile MGMT 10 Gal TJ, 2005 [28] 143 Any Ile 66 (24.2) 1.10 0.66 1.85
rs231775 CTLA4 2 Azad AK, 2012a [33] A49G A > G AA 247 (47);
AG 221 (42);
GG 62 (11)
1.03 0.78 1.37
rs2424913 DNMT3B 20 Azad AK, 2012a [33] C149T C > T CC 183 (35);
CT 247 (47);
TT 96 (18)
1.49 1.15 1.95
Arg 399 Gln (rs25487) XRCC1 19 Azad AK, 2012a [33] Arg399Gln A > G CC 222 (42);
CT 235 (44);
TT 73 (14)
1.17 0.89 1.54
Gal TJ, 2005 [28] Gln/Gln 25 (9.4) 1.56 0.73 3.45
Any Gln 142 (53.2) 0.87 0.55 1.39
Arg/Gln 117 (43.8) 0.79 0.48 1.29
rs3025090 MMP3 11 Lee JJ, 2011 [35] dominant (common genotype model) NR 3.57 1.64 7.69
rs3088440 p14ARF 9 Jin L. 2013 [32] GG 1034 (80.6) 1   
GA/AA 249 (19.4) 1.6 1.1 2.4
Zhang Y, 2011 [31] GG (Ref.c) 1038 (80.7) 1.0 1  
GA 219 (17.0) 1.69 1.11 2.56
AA 30 (2.3) 1.05 0.33 3.37
GA + AA 249 (19.3) 1.61 1.07 2.43
rs3118570 RXRA 9 Lee JJ, 2011 [35] dominant (common genotype model) NR 3.33 1.67 6.67
rs3212986 (C8092A) ERCC1 19 Zafereo, 2009 [39] CC + CA 1000 (93.7) 1   
AA 67 (6.3) 0.9 0.4 1.9
Azad AK, 2012a [33] C8092A C > A CC 320 (60);
AC 179 (34);
AA 31 (6)
1.06 0.77 1.46
rs35068180 MMP3 11 Azad AK, 2012a [33] 1612insA −/A 5A/5A 128 (24); 5A/6A 275 (53); 6A/6A 122 (23) 1.01 0.76 1.34
rs351855 FGFR4 5 Azad AK, 2012a [33] Gly388Arg G > A CC 281 (53);
CT 210 (40);
TT 37 (7)
0.98 0.73 1.32
rs35742686 CYP2D6 22 Azad AK, 2012a [33] DelA AA 441 (87);
GA 63 (12);
GG 1 (1)
0.83 0.48 1.43
rs3731217 p14ARF 9 Jin L, 2013 [32] TT 963 (75.1) 1   
TG/GG 320 (24.9) 1.5 1.0 2.3
Zhang Y, 2011 [31] TT (Ref.c) 966 (75.1) 1.00 1  
TG 293 (22.8) 1.54 1.03 2.31
GG 28 (2.1) 0.82 0.20 3.35
TG + GG 321 (24.9) 1.48 1.00 2.19
rs3827665 TSC1 9 Lee JJ, 2011 [35] dominant (common genotype model) NR 3.57 1.41 9.09
rs3892097 CYP2D6 22 Azad AK, 2012a [33] G > A GG 281 (56);
GA 198 (39);
AA 25 (5)
1.09 0.78 1.51
FASLG −124 A > G (rs5030772) FASLG 1 Lei D, 2010 [25] AA 981 (76.3) 1   
AG + GG 305 (23.7) 1.15 0.75 1.77
Sun Y, 2016 [29] AA ref. (non-OPC-HNC) 63 1   
AG + GG (non-OPC-HNC) 19 1.6 0.9 3.0
AA ref. (OPC-HNC) 31 1   
AG + GG (OPC-HNC) 11 1.1 0.5 2.4
rs603965 CCND1 11 Azad AK, 2012a [33] A870G G > A GG 138 (26);
GA 258 (49);
AA 132 (25)
1.06 0.82 1.38
rs6596428 CDC25C 5 Lee JJ, 2011 [35] dominant (common genotype model) NR 2.08 1.28 3.45
rs678653 CCND1 11 Azad AK, 2012a [33] G1722C C > G GG 229 (44);
GC 230 (44);
CC 66 (12)
0.73 0.54 0.99
rs7040593 TSC1 9 Lee JJ, 2011 [25] dominant (common genotype model) NR 3.03 1.37 6.67
rs735482 ERCC1 19 Azad AK, 2012a [33] Lys259Thr A > C AA 409 (78);
CA 111 (21);
CC 6 (1)
0.94 0.62 1.44
rs739442 TSC1 9 Lee JJ, 2011 [35] additive NR 1.56 1.12 2.17
FASLG -844C > T (rs763110) FASL 1 Lei D, 2010 [25] CC 511 (39.7) 1   
CT + TT 775 (60.3) 1.71 1.15 2.54
Sun Y, 2016 [29] CC ref. (non-OPC-HNC) 26 1   
CT + TT (non-OPC-HNC) 56 1.7 1.0 3.0
CC ref. (OPC-HNC) 11 1   
CT + TT (OPC-HNC) 31 2.7 1.2 6.0
rs937283 MDM2 12 Jin L, 2013 [32] AA 343 (26.7) 1   
AG/GG 940 (73.7) 1.2 0.8 1.8
Thr 241 Met (rs861539) XRCC3 14 Azad AK, 2012a [33] Thr241Met C > T GG 189 (36);
AG 251 (47);
AA 90 (17)
1.00 0.77 1.31
Gal TJ, 2005 [28] Any Met 149 (58.4) 1.62 0.98 2.67
Thr/Met 111 (43.5) 1.38 0.81 2.37
Met/Met 38 (14.9) 2.65 1.29 5.45
rs9551427 FLT3 13 Lee JJ, 2011 [35] dominant (common genotype model) NR 1.92 1.19 3.13
  1. Abbreviations: SNPs Single Nucleotide Polymorphisms, NR Not reported, HR Hazard Ratio, UCI upper confidence interval, LCI lower confidence interval, ref. reference, HNC head and neck cancer  
  2. aadditive genotype model; in bold are reported statistically significant data