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Table 1 Analysis of genotype data from melanoma cases and controls for polymorphisms on chromosome 9p21 locus

From: Variants at the 9p21 locus and melanoma risk

SNP

Cases (%)

Controls (%)

OR

95% CI

P value

rs751173

     

TT

211 (27.2)

358 (31.1)

Reference

  

TC

384 (49.6)

573 (49.7)

1.18

0.94 –1.47

 

CC

179 (23.1)

221 (19.2)

1.43

1.09-1.87

0.04

TC+CC

563 (72.7)

794 (68.9)

1.25

1.01-1.54

0.04

T allele

806 (52.1)

1286 (56)

Reference

  

C allele

742 (47.9)

1015 (44.1)

1.19

1.04–1.37

0.01

MAF

0.48

0.44

   

rs4636294

     

GG

169 (21.9)

280 (24.3)

Reference

  

AG

375 (48.5)

605 (52.5)

1.07

0.84–1.36

 

AA

229 (29.6)

268 (23.2)

1.41

1.08–1.85

0.02

AG+AA

604 (78.1)

873 (75.7)

1.17

0.93–1.47

0.16

G allele

713 (46.1)

1165 (50.5)

Reference

  

A allele

833 (53.9)

1141 (49.5)

1.19

1.04–1.36

0.01

MAF

0.54

0.50

   

rs2218220

     

TT

167 (21.6)

281 (24.4)

Reference

  

CT

379 (49)

607 (52.7)

1.09

0.86–1.39

 

CC

228 (29.5)

264 (22.9)

1.45

1.11–1.91

0.01

TC+CC

607 (78.4)

871 (75.6)

1.20

0.96–1.51

0.12

T allele

713 (46.1)

1169 (50.7)

Reference

  

C allele

835 (53.9)

1135 (49.3)

1.21

1.05–1.38

0.007

MAF

0.54

0.49

   

rs1335510

     

TT

323 (41.8)

406 (35.4)

Reference

  

TG

352 (45.6)

568 (49.5)

0.79

0.64–0.97

 

GG

97 (12.5)

173 (15.1)

0.67

0.49–0.91

0.01

TG+GG

449 (58.2)

741 (64.6)

0.76

0.63–0.93

0.007

T allele

998 (64.6)

1380 (60.2)

Reference

  

G allele

546 (35.4)

914 (39.8)

0.81

0.71–0.94

0.004

MAF

0.35

0.40

   

rs1341866

     

TT

316 (40.8)

398 (34.6)

Reference

  

TC

361 (46.6)

576 (50)

0.81

0.66–0.99

 

CC

97 (12.5)

177 (15.4)

0.66

0.49–0.90

0.02

TC+CC

458 (59.2)

753 (65.4)

0.77

0.63–0.94

0.01

T allele

993 (64.2)

1372 (59.6)

Reference

  

C allele

555 (35.9)

930 (40.4)

0.82

0.71–0.94

0.004

MAF

0.36

0.40

   

rs935053

     

AA

172 (22.3)

293 (25.4)

Reference

  

AG

373 (48.3)

601 (52)

1.10

0.87–1.40

 

GG

228 (29.5)

259 (22.5)

1.48

1.13–1.94

0.009

AG+GG

601 (78 )

860 (74.6)

1.22

0.97–1.53

0.08

A allele

717 (46.4)

1187 (51.5)

Reference

  

G allele

829 (53.6)

1119 (48.5)

1.22

1.06–1.39

0.004

MAF

0.54

0.49

   

rs10757257

     

GG

320 (41.3)

407 (35.4)

Reference

  

GA

360 (46.5)

567 (49.3)

0.83

0.68–1.02

 

AA

94 (12.1)

177 (15.4)

0.65

0.48–0.88

0.02

GA+AA

454 (58.7)

744 (64.6)

0.79

0.65–0.96

0.02

G allele

1000 (64.6)

1381 (60)

Reference

  

A allele

548 (35.4)

921 (40)

0.81

0.71–0.94

0.004

MAF

0.35

0.40

   

rs7023329

     

AA

230 (29.7)

290 (25.2)

Reference

  

AG

377 (48.7)

576 (50)

0.84

0.67–1.06

 

GG

167 (21.6)

287 (24.9)

0.74

0.56–0.96

0.08

AG+GG

544 (70.3)

863 (74.9)

0.81

0.65–1.00

0.05

A allele

837 (54.1)

1156 (50.1)

Reference

  

G allele

711 (45.9)

1150 (49.9)

0.86

0.75–0.98

0.02

MAF

0.46

0.50

   

rs10811629

     

AA

313 (40.4)

395 (34.4)

Reference

  

AG

362 (46.8)

579 (50.4)

0.83

0.68–1.03

 

GG

99 (12.8)

174 (15.2)

0.70

0.52–0.95

0.05

AG+GG

461 (59.6)

753 (65.6)

0.80

0.66–0.98

0.03

A allele

988 (63.8)

1369 (59.6)

Reference

  

G allele

560 (36.2)

927 (40.4)

0.84

0.73–0.97

0.02

MAF

0.36

0.40

   

rs1011970

     

GG

549 (71.3)

850 (74.1)

Reference

  

GT

190 (24.7)

277 (24.2)

1.03

0.82–1.29

 

TT

31 (4)

19 (1.7)

2.24

1.22–4.13

0.04

GT+TT

221 (28.7)

296 (25.8)

1.11

0.89–1.38

0.35

G allele

1288 (83.6)

1977 (86.3)

Reference

  

T allele

252 (16.4)

315 (13.7)

1.18

0.97- 1.42

0.10

MAF

0.17

0.14

   

CDKN2A tagging polymorphysms

SNP

Cases (%)

Controls (%)

OR

95% CI

P value

rs3731257

     

GG

398 (52)

595 (51.8)

Reference

  

GA

302 (39.5)

455 (39.6)

0.94

0.77–1.15

 

AA

65 (8.5)

98 (8.5)

0.89

0.63–1.27

0.73

GA+AA

367 (48)

553 (48.2)

0.93

0.77–1.13

0.46

G allele

1098 (71.8)

1645 (71.7)

Reference

  

A allele

432 (28.2)

651 (28.4)

0.94

0.81–1.09

0.43

MAF

0.28

0.28

   

rs11515

     

GG

538 (69.7)

796 (69.6)

Reference

  

GC

214 (27.7)

316 (27.7)

0.96

0.78–1.19

 

CC

20 (2.6)

31 (2.7)

0.91

0.50–1.67

0.91

GC +CC

234 (30.3)

347 (30.4)

0.96

0.78–1.18

0.68

G allele

1290 (83.6)

1908 (83.5)

Reference

  

C allele

254 (16.5)

378 (16.5)

0.96

0.80–1.15

0.66

MAF

0.17

0.17

   

rs3088440

     

CC

660 (85.4)

1020 (90)

Reference

  

CT

108 (14)

108 (9.5)

1.52

1.13–2.05

 

TT

5 (0.7)

5 (0.4)

1.50

0.40–5.58

0.02

CT+TT

113 (14.6)

113 (10)

1.52

1.14–2.04

0.005

C allele

1428 (92.4)

2148 (94.8)

Reference

  

T allele

118 (7.6)

118 (5.2)

1.48

1.12–1.96

0.005

MAF

0.08

0.05

   

rs2518719

     

AA

541 (70.8)

808 (70.4)

Reference

  

AG

206 (27)

320 (27.9)

1.04

0.84–1.30

 

GG

17 (2.2)

19 (1.7)

1.58

0.79–3.19

0.42

AG+GG

223 (29.2)

339 (29.6)

1.07

0.87–1.33

0.51

A allele

1288(84.3)

1936 (84.4)

Reference

  

G allele

240 (15.7)

358 (15.6)

1.09

0.91–1.31

0.36

MAF

0.16

0.16

   

rs2811708

     

GG

369 (46.8)

563 (49.1)

Reference

  

GT

332 (43)

475 (41.5)

1.09

0.89–1.33

 

TT

71 (9.2)

108 (9.4)

1.05

0.74–1.48

0.70

GT + TT

403 (52.2)

583 (50.9)

1.08

0.89–1.31

0.42

G allele

1070 (69.3)

1601 (69.9)

Reference

  

T allele

474 (30.7)

691 (30.2)

1.05

0.91–1.22

0.52

MAF

0.31

0.30

   

rs3731239

     

AA

356 (46.8)

494 (43)

Reference

  

AG

318 (41.8)

536 (46.6)

0.84

0.68–1.03

 

GG

86 (11.3)

120 (10.4)

1.08

0.78–1.50

0.13

AG+GG

404 (53.2)

656 (57)

0.88

0.73–1.07

0.20

A allele

1030 (67.8)

1524 (66.3)

Reference

  

G allele

490 (32.2)

776 (33.7)

0.97

0.84–1.12

0.65

MAF

0.33

0.34

   

rs2811710

     

CC

286 (37)

450 (39.3)

Reference

  

CT

355 (45.9)

542 (47.3)

1.03

0.82–1.27

 

TT

132 (17.1)

154 (13.4)

1.40

1.05–1.87

0.06

CT+TT

487 (63)

696 (60.7)

1.10

0.91–1.35

0.30

C allele

927 (60)

1442 (62.9)

Reference

  

T allele

619 (40)

850 (37.1)

1.15

1.00–1.32

0.05

MAF

0.40

0.37

   

rs3218020

     

GG

254 (32.8)

381 (33.2)

Reference

  

GA

375 (48.5)

560 (48.8)

0.97

0.78–1.20

 

AA

145 (18.7)

206 (17.9)

0.96

0.73–1.27

0.95

GA+AA

520 (67.2)

766 (66.8)

0.97

0.79–1.18

0.74

G allele

883 (57)

1322 (57.6)

Reference

  

A allele

665 (43)

972 (42.4)

0.98

0.85–1.12

0.76

MAF

0.43

0.42

   

rs3218009

     

CC

650 (84)

965 (83.8)

Reference

  

CG

118 (15.3)

180 (15.6)

1.01

0.77–1.31

 

GG

6 (0.8)

6 (0.5)

1.96

0.61–6.29

0.52

CG+GG

124 (16)

186 (16.2)

1.04

0.80–1.34

0.79

C allele

1418 (91.6)

2110 (91.7)

Reference

  

G allele

130 (8.4)

192 (8.3)

1.06

0.83–1.35

0.63

MAF

0.08

0.08

   

rs3217992

     

CC

229 (29.9)

341 (29.7)

Reference

  

CT

380 (49.7)

565 (49.2)

0.95

0.76–1.19

 

TT

156 (20.4)

243 (21.2)

0.89

0.68–1.17

0.72

CT+TT

536 (70.1)

808 (70.3)

0.94

0.76–1.15

0.53

C allele

838 (54.8)

1247 (54.3)

Reference

  

T allele

692 (45.2)

1051 (45.7)

0.95

0.83–1.08

0.42

MAF

0.45

0.46

   

rs1063192

     

AA

316 (40.9)

445 (38.8)

Reference

  

AG

365 (47.3)

537 (46.9)

0.99

0.80–1.22

 

GG

91 (11.8)

164 (14.3)

0.89

0.65–1.20

0.72

AG+GG

456 (59.1)

701 (61.2)

0.97

0.79–1.17

0.72

A allele

997 (64.6)

1427 (62.3)

Reference

  

G allele

547 (35.4)

865 (37.7)

0.95

0.83–1.10

0.51

MAF

0.35

0.38

   

rs573687

     

GG

380 (49.3)

532 (46.4)

Reference

  

GA

329 (42.7)

501 (43.7)

0.95

0.78–1.17

 

AA

62 (8)

114 (9.9)

0.86

0.61–1.22

0.68

GA+AA

391 (50.7)

615 (53.6)

0.94

0.77–1.14

0.50

G allele

1089 (70.6)

1565 (68.2)

Reference

  

A allele

453 (29.4)

729 (31.8)

0.94

0.81–1.09

0.40

MAF

0.29

0.32

   

rs13298881

     

TT

565 (73.8)

862 (75.2)

Reference

  

TC

183 (23.9)

262 (22.8)

1.14

0.91–1.43

 

CC

18 (2.4)

23 (2)

1.26

0.65–2.45

0.46

TC+CC

201 (26.2)

285 (24.9)

1.15

0.92–1.43

0.22

T allele

1313 (85.7)

1986 (86.6)

Reference

  

C allele

219 (14.3)

308 (13.4)

1.14

0.93–1.38

0.21

MAF

0.14

0.13

   

rs545226

     

AA

207 (26.8)

300 (26.1)

Reference

  

AG

378 (48.9)

577 (50.3)

0.88

0.70–1.11

 

GG

188 (24.3)

271 (23.6)

0.93

0.71–1.22

0.55

AG+GG

566 (73.2)

848 (73.9)

0.90

0.72–1.11

0.32

A allele

792 (51.2)

1177 (51.3)

Reference

  

G allele

754 (48.8)

1119 (48.7)

0.96

0.84–1.10

0.57

MAF

0.49

0.49

   

rs10811640

     

GG

184 (24.1)

298 (26.1)

Reference

  

GT

371 (48.5)

565 (49.4)

1.02

0.81–1.29

 

TT

210 (27.5)

280 (24.5)

1.12

0.86–1.46

0.68

GT+TT

581 (76)

845 (73.9)

1.05

0.84–1.32

0.65

G allele

739 (48.3)

1161 (50.8)

Reference

  

T allele

791 (51.7)

1125 (49.2)

1.06

0.92–1.21

0.42

MAF

0.52

0.49

   
  1. Values in bold indicate statistical significance.