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Table 1.

Study demographics of the eight SNPs studied in HNPCC patients according to disease expression: affected with CRC (CRC+) and unaffected MMR gene mutation carriers (CRC)

CYP1A1 T3810CTT (%)TC (%)CC (%)Any C (%)P*
Subject group (n = 220) 187 (85) 29 (13) 4 (2)   
Allele frequency 0.916  0.084   
CRC+ (n = 118) 94 (80) 20 (17) 4 (3) 24 (20) 0.03 
CRC (n = 100) 91 (91) 9 (9) 0 (0) 9 (9)  
 OR, 0.39; 95% CI, 0.17-0.88; P = 0.03     
      
GSTM1 del
 
WT (%)
 

 
Deletion (%)
 
Any A (%)
 
P*
 
Subject group (n = 220) 99 (45) N/A 121 (55)   
Allele frequency 0.450  0.550   
CRC+ (n = 118) 53 (45) N/A 65 (55) 65 (55) 0.99 
CRC (n = 100) 45 (45) N/A 55 (55) 55 (55)  
 OR, 0.99; 95% CI, 0.58-1.70; P = 0.99     
      
GSTT1 del
 
WT (%)
 

 
Deletion (%)
 
Any A (%)
 
P*
 
Subject group (n = 220) 175 (80) N/A 45 (20)   
Allele frequency 0.795  0.205   
CRC+ (n = 118) 93 (79) N/A 25 (21) 25 (21) 0.83 
CRC (n = 100) 80 (80) N/A 20 (20) 20 (20)  
 OR, 0.93; 95% CI, 0.48-1.80; P = 0.96     
      
GSTP1 I105V
 
AA (%)
 
AG (%)
 
GG (%)
 
Any G (%)
 
P*
 
Subject group (n = 220) 109 (50) 87 (40) 24 (11)   
Allele frequency 0.693  0.307   
CRC+ (n = 118) 56 (47) 49 (42) 13 (11) 62 (53) 0.80 
CRC (n = 100) 52 (52) 38 (38) 10 (10) 48 (48)  
 OR, 0.83; 95% CI, 0.49-01.42; P = 0.59     
      
NAT2 T341C
 
TT (%)
 
TC (%)
 
CC (%)
 
Any C (%)
 
P*
 
Subject group (n = 219) 71 (32) 105 (48) 43 (20)   
Allele frequency 0.564  0.436   
CRC+ (n = 117) 33 (28) 61 (52) 23 (20) 84 (72) 0.33 
CRC (n = 100) 37 (37) 43 (43) 20 (20) 63 (63)  
 OR, 0.67; 95% CI, 0.38-1.19; P = 0.22     
      
NAT2 C481T
 
CC (%)
 
CT (%)
 
TT (%)
 
Any T (%)
 
P*
 
Subject group (n = 218) 76 (35) 103 (47) 39 (18)   
Allele frequency 0.585  0.415   
CRC+ (n = 117) 36 (31) 59 (50) 22 (19) 81 (69) 0.41 
CRC (n = 99) 39 (39) 43 (43) 17 (17) 60 (60)  
 OR, 0.68; 95% CI, 0.39-1.20; P = 0.24     
      
NAT2 G590A
 
GG (%)
 
GA (%)
 
AA (%)
 
Any A (%)
 
P*
 
Subject group (n = 219) 126 (58) 77 (35) 16 (7)   
Allele frequency 0.751  0.249   
CRC+ (n = 118) 72 (61) 38 (32) 8 (7) 46 (39) 0.63 
CRC (n = 99) 54 (55) 37 (37) 8 (8) 45 (45)  
 OR, 1.30; 95% CI, 0.76-2.24; P = 0.41     
      
NAT2 G857A
 
GG (%)
 
GA (%)
 
AA (%)
 
Any A (%)
 
P*
 
Subject group (n = 218) 212 (97) 5 (2) 1 (0)   
Allele frequency 0.984  0.016   
CRC+ (n = 118) 115 (97) 2 (2) 1 (1) 3 (3) 0.53 
CRC (n = 98) 95 (97) 3 (3) 0 (0) 3 (3)  
 OR, 1.30; 95% CI, 0.24-6.14; P = 0.82     
CYP1A1 T3810CTT (%)TC (%)CC (%)Any C (%)P*
Subject group (n = 220) 187 (85) 29 (13) 4 (2)   
Allele frequency 0.916  0.084   
CRC+ (n = 118) 94 (80) 20 (17) 4 (3) 24 (20) 0.03 
CRC (n = 100) 91 (91) 9 (9) 0 (0) 9 (9)  
 OR, 0.39; 95% CI, 0.17-0.88; P = 0.03     
      
GSTM1 del
 
WT (%)
 

 
Deletion (%)
 
Any A (%)
 
P*
 
Subject group (n = 220) 99 (45) N/A 121 (55)   
Allele frequency 0.450  0.550   
CRC+ (n = 118) 53 (45) N/A 65 (55) 65 (55) 0.99 
CRC (n = 100) 45 (45) N/A 55 (55) 55 (55)  
 OR, 0.99; 95% CI, 0.58-1.70; P = 0.99     
      
GSTT1 del
 
WT (%)
 

 
Deletion (%)
 
Any A (%)
 
P*
 
Subject group (n = 220) 175 (80) N/A 45 (20)   
Allele frequency 0.795  0.205   
CRC+ (n = 118) 93 (79) N/A 25 (21) 25 (21) 0.83 
CRC (n = 100) 80 (80) N/A 20 (20) 20 (20)  
 OR, 0.93; 95% CI, 0.48-1.80; P = 0.96     
      
GSTP1 I105V
 
AA (%)
 
AG (%)
 
GG (%)
 
Any G (%)
 
P*
 
Subject group (n = 220) 109 (50) 87 (40) 24 (11)   
Allele frequency 0.693  0.307   
CRC+ (n = 118) 56 (47) 49 (42) 13 (11) 62 (53) 0.80 
CRC (n = 100) 52 (52) 38 (38) 10 (10) 48 (48)  
 OR, 0.83; 95% CI, 0.49-01.42; P = 0.59     
      
NAT2 T341C
 
TT (%)
 
TC (%)
 
CC (%)
 
Any C (%)
 
P*
 
Subject group (n = 219) 71 (32) 105 (48) 43 (20)   
Allele frequency 0.564  0.436   
CRC+ (n = 117) 33 (28) 61 (52) 23 (20) 84 (72) 0.33 
CRC (n = 100) 37 (37) 43 (43) 20 (20) 63 (63)  
 OR, 0.67; 95% CI, 0.38-1.19; P = 0.22     
      
NAT2 C481T
 
CC (%)
 
CT (%)
 
TT (%)
 
Any T (%)
 
P*
 
Subject group (n = 218) 76 (35) 103 (47) 39 (18)   
Allele frequency 0.585  0.415   
CRC+ (n = 117) 36 (31) 59 (50) 22 (19) 81 (69) 0.41 
CRC (n = 99) 39 (39) 43 (43) 17 (17) 60 (60)  
 OR, 0.68; 95% CI, 0.39-1.20; P = 0.24     
      
NAT2 G590A
 
GG (%)
 
GA (%)
 
AA (%)
 
Any A (%)
 
P*
 
Subject group (n = 219) 126 (58) 77 (35) 16 (7)   
Allele frequency 0.751  0.249   
CRC+ (n = 118) 72 (61) 38 (32) 8 (7) 46 (39) 0.63 
CRC (n = 99) 54 (55) 37 (37) 8 (8) 45 (45)  
 OR, 1.30; 95% CI, 0.76-2.24; P = 0.41     
      
NAT2 G857A
 
GG (%)
 
GA (%)
 
AA (%)
 
Any A (%)
 
P*
 
Subject group (n = 218) 212 (97) 5 (2) 1 (0)   
Allele frequency 0.984  0.016   
CRC+ (n = 118) 115 (97) 2 (2) 1 (1) 3 (3) 0.53 
CRC (n = 98) 95 (97) 3 (3) 0 (0) 3 (3)  
 OR, 1.30; 95% CI, 0.24-6.14; P = 0.82     

NOTE: CRC+ pertains to the CRC patients and CRC pertains to the unaffected MMR gene mutation carriers.

*

Comparison of genotype frequencies using Pearson's χ2.

OR is the relative risk for patients with “any variant allele” genotype relative to those being homozygote WT.

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