Table 1.
Logistic regression model (n = 139) |
|
Analysis endpoint - CRC |
Analysis endpoint - Adenomas |
||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
APT5A1 SNP: Genotype | Total n (%) | Cancer free (n) | CRC (n) | Adenomas (n) | OR (95% CI) | p-value | Kaplan-Meier analysis p-value* | OR (95% CI) | p-value | Kaplan-Meier analysis p-value* | |
rs13381709: |
CC |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
CT |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
TT |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
|
0.44 (0.16-1.22) |
0.115 |
|
rs1800636: |
CC |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
CT |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
TT |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
|
0.44 (0.16-1.22) |
0.115 |
|
rs1800637: |
TT |
58 (42) |
50 |
8 |
44 |
1.0 |
|
0.5385 |
1.0 |
|
0.2362 |
|
TC |
56 (40) |
46 |
10 |
41 |
1.36 (0.49-3.74) |
0.553 |
0.87 (0.37-2.02) |
0.746 |
||
|
CC |
25 (18) |
23 |
2 |
14 |
0.54 (0.11-2.76) |
0.462 |
|
0.40 (0.15-1.09) |
0.074 |
|
rs1800639: |
GG |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
GT |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
TT |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
|
0.44 (0.16-1.22) |
0.115 |
|
TT |
57 (41) |
49 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
|
TC |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-1.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
CC |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
0.44 (0.16-1.22) |
0.115 |
||
|
Failed genotyping |
2 (1) |
|
|
|
|
|
|
|
|
|
rs2298787: |
TT |
57 (41) |
50 |
7 |
42 |
1.0 |
|
0.3208 |
1.0 |
|
0.4143 |
|
TC |
59 (42) |
47 |
12 |
44 |
1.82 (0.66-5.03) |
0.245 |
1.05 (0.46-2.41) |
0.913 |
||
|
CC |
23 (17) |
22 |
1 |
13 |
0.32 (0.04-2.80) |
0.306 |
|
0.46 (0.17-1.28) |
0.138 |
|
rs2578187: |
GG |
114 (82) |
99 |
15 |
78 |
1.0 |
|
0.9719 |
1.0 |
|
0.5744 |
|
GA |
24 (17) |
19 |
5 |
20 |
1.74 (0.56-5.35) |
0.336 |
2.31 (0.74-7.24) |
0.152 |
||
|
AA |
1 (1) |
1 |
0 |
1 |
- |
- |
|
- |
- |
|
rs2578189: |
CC |
89 (64) |
78 |
11 |
67 |
1.0 |
|
0.0014 |
1.0 |
|
0.3898 |
|
CT |
45 (32) |
38 |
7 |
28 |
1.31 (0.47-3.64) |
0.609 |
0.54 (0.25-1.17) |
0.118 |
||
|
TT |
5 (4) |
3 |
2 |
4 |
4.73 (0.71-31.52) |
0.109 |
|
1.31 (0.14-12.38) |
0.812 |
|
rs7244921: |
TT |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
TC |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
CC |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
|
0.44 (0.16-1.22) |
0.115 |
|
rs8088881: |
TT |
58 (42) |
50 |
8 |
44 |
1.0 |
|
0.3179 |
1.0 |
|
0.2493 |
|
TC |
57 (41) |
46 |
11 |
42 |
1.49 (0.55-4.04) |
0.429 |
0.89 (0.38-2.07) |
0.788 |
||
|
CC |
23 (17) |
22 |
1 |
13 |
0.28 (0.03-2.41) |
0.249 |
0.41 (0.15-1.15) |
0.090 |
||
|
Failed genotyping |
1 (1) |
|
|
|
|
|
|
|
|
|
rs8089150: |
AA |
57 (41) |
50 |
7 |
42 |
1.0 |
|
0.3208 |
1.0 |
|
0.4143 |
|
AG |
59 (42) |
47 |
12 |
44 |
0.82 (0.66-5.03) |
0.245 |
1.05 (0.46-2.41) |
0.913 |
||
|
GG |
23 (17) |
22 |
1 |
13 |
0.32 (0.04-2.80) |
0.306 |
|
0.46 (0.17-1.28) |
0.138 |
|
rs8092674: |
CC |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
CT |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
TT |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
|
0.44 (0.16-1.22) |
0.115 |
|
rs8093880: |
CC |
57 (41) |
49 |
8 |
43 |
1.0 |
|
0.3322 |
1.0 |
|
0.3575 |
|
CT |
55 (40) |
45 |
10 |
42 |
1.36 (0.49-3.75) |
0.551 |
1.05 (0.44-2.50) |
0.909 |
||
|
TT |
23 (17) |
22 |
1 |
13 |
0.28 (0.03-2.36) |
0.241 |
0.42 (0.15-1.18) |
0.099 |
||
|
Failed genotyping |
4 (3) |
|
|
|
|
|
|
|
|
|
rs8094902: |
TT |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3183 |
1.0 |
|
0.2561 |
|
TC |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
CC |
23 (17) |
22 |
1 |
13 |
0.29 (0.03-2.46) |
0.256 |
|
0.44 (0.16-1.22) |
0.115 |
|
rs8095031: |
TT |
59 (42) |
51 |
8 |
44 |
1.0 |
|
0.3234 |
1.0 |
|
0.2221 |
|
TC |
57 (41) |
46 |
11 |
42 |
1.52 (0.56-4.12) |
0.406 |
0.95 (0.42-2.19) |
0.913 |
||
|
CC |
22 (16) |
22 |
1 |
12 |
0.30 (0.04-2.58) |
0.275 |
|
0.41 (0.15-1.14) |
0.087 |
|
|
Failed genotyping |
1 (1) |
|
|
|
|
|
|
|
|
|
rs8095608: |
AA |
58 (42) |
51 |
7 |
43 |
1.0 |
|
0.3183 |
1.0 |
|
0.3738 |
|
AG |
58 (42) |
46 |
12 |
43 |
1.90 (0.68-5.24) |
0.214 |
1.0 (0.44-2.30) |
1.000 |
||
|
GG |
22 (16) |
21 |
1 |
12 |
0.35 (0.04-2.99) |
0.336 |
0.42 (0.15-1.17) |
0.096 |
||
Failed genotyping | 1 (1) |
*Log-Rank p-value.
Demographics of the genotype frequencies in Australian FAP patients with CRC, patients with adenomas and cancer/adenoma free individuals. Logistic regression model was used to test risk of CRC associated with each SNP, while Kaplan-Meier estimator analysis was used to test association between age of diagnosis of CRC/adenomas and genotype. Two different analysis was performed; one using CRC as endpoint of analysis and one using adenomas as endpoint of analysis.