CYP1A2 Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
|
rs number
|
Nucleotide change |
Amino acid change |
Genotyping method
|
|
rs11854147
|
5341bp 3′ of STP C>T |
|
TaqMan |
|
rs2069514
|
-3859G>A |
|
TaqMan |
|
rs4886406
|
9773bp 3′ of STP T>G |
|
TaqMan |
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs11854147 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
68.6 (66.9, 70.4) |
31.4 (29.6, 33.1) |
<0.001 |
49.1 (46.9, 51.4) |
39.0 (37.2, 40.8) |
11.9 (10.3, 13.6) |
<0.001 |
<0.01 |
| Non-Hispanic Black |
27.9 (26.1, 29.7) |
72.1 (70.3, 73.9) |
8.6 (7.1, 10.4) |
38.6 (36.8, 40.5) |
52.8 (50.5, 55.1) |
0.11 |
| Mexican American |
38.7 (35.1, 42.3) |
61.3 (57.7, 64.9) |
16.5 (13.3, 20.2) |
44.4 (41.0, 47.8) |
39.1 (34.8, 43.7) |
0.11 |
| Total* |
59.6 (57.2, 61.9) |
40.4 (38.1, 42.8) |
|
39.5 (36.8, 42.2) |
40.1 (38.6, 41.7) |
20.4 (18.2, 22.7) |
|
|
| rs2069514 |
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
1.6 (1.0, 2.5) |
98.4 (97.5, 99.0) |
<0.001 |
0.1 (0.0, 0.8) |
2.9 (1.8, 4.7) |
96.9 (95.2, 98.1) |
<0.001 |
0.09 |
| Non-Hispanic Black |
26.3 (24.9, 27.7) |
73.7 (72.3, 75.1) |
6.3 (5.3, 7.5) |
39.9 (36.8, 43.1) |
53.8 (51.0, 56.5) |
0.29 |
| Mexican American |
33.7 (30.2, 37.4) |
66.3 (62.6, 69.8) |
12.2 (9.3, 15.9) |
42.9 (39.3, 46.6) |
44.9 (40.3, 49.6) |
0.29 |
| Total* |
8.4 (7.0, 10.0) |
91.6 (90.0, 93.0) |
|
2.2 (1.7, 2.9) |
12.4 (10.2, 15.0) |
85.4 (82.6, 87.9) |
|
|
| rs4886406 |
|
G |
T |
|
GG |
GT |
TT |
|
|
| Non-Hispanic White |
27.8 (26.5, 29.2) |
72.2 (70.8, 73.5) |
<0.001 |
8.4 (7.1, 9.8) |
38.9 (37.1, 40.8) |
52.7 (50.9, 54.6) |
0.001 |
0.13 |
| Non-Hispanic Black |
38.3 (36.0, 40.8) |
61.7 (59.2, 64.0) |
13.9 (12.1, 16.0) |
48.8 (45.9, 51.8) |
37.2 (33.8, 40.8) |
0.18 |
| Mexican American |
26.5 (24.7, 28.5) |
73.5 (71.5, 75.3) |
7.2 (5.8, 9.0) |
38.6 (36.2, 41.1) |
54.1 (51.4, 56.9) |
0.87 |
| Total* |
29.4 (28.1, 30.7) |
70.6 (69.3, 71.9) |
|
9.0 (7.9, 10.2) |
40.9 (38.9, 42.9) |
50.1 (48.1, 52.2) |
|
|
* Includes all U.S. race/ethnic groups.
† “other” race/ethnicity category was not included in chi-square tests.
‡ P-values from unweighted chi-square goodness-of-fit tests to test for deviations from Hardy-Weinberg (HW) proportions.
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By Age
| Variant |
Age (years) |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs11854147 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
57.9 (51.7, 63.9) |
42.1 (36.1, 48.3) |
0.199 |
37.8 (30.9, 45.3) |
40.2 (35.8, 44.7) |
22.0 (16.8, 28.3) |
0.252 |
| 20-39 |
58.1 (54.8, 61.4) |
41.9 (38.6, 45.2) |
37.0 (33.3, 40.8) |
42.3 (40.2, 44.4) |
20.7 (17.8, 24.1) |
| 40-59 |
60.6 (57.4, 63.7) |
39.4 (36.3, 42.6) |
41.5 (37.5, 45.5) |
38.3 (35.1, 41.5) |
20.3 (17.5, 23.4) |
| >=60 |
62.1 (59.6, 64.5) |
37.9 (35.5, 40.4) |
42.9 (39.8, 46.0) |
38.5 (35.5, 41.6) |
18.6 (16.1, 21.4) |
| Total |
59.6 (57.2, 61.9) |
40.4 (38.1, 42.8) |
|
39.5 (36.8, 42.2) |
40.1 (38.6, 41.7) |
20.4 (18.2, 22.7) |
|
| rs2069514 |
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
10.5 (7.9, 13.9) |
89.5 (86.1, 92.1) |
0.003 |
3.1 (2.2, 4.4) |
14.9 (10.8, 20.2) |
82.0 (76.2, 86.6) |
0.062 |
| 20-39 |
9.7 (7.4, 12.6) |
90.3 (87.4, 92.6) |
2.4 (1.5, 3.8) |
14.6 (10.7, 19.5) |
83.1 (77.9, 87.2) |
| 40-59 |
7.4 (6.1, 8.9) |
92.6 (91.1, 93.9) |
2.2 (1.5, 3.2) |
10.4 (8.7, 12.5) |
87.4 (85.0, 89.4) |
| >=60 |
5.8 (4.5, 7.6) |
94.2 (92.4, 95.5) |
1.3 (0.6, 2.9) |
9.0 (7.5, 10.7) |
89.7 (87.2, 91.7) |
| Total |
8.4 (7.0, 10.0) |
91.6 (90.0, 93.0) |
|
2.2 (1.7, 2.9) |
12.4 (10.2, 15.0) |
85.4 (82.6, 87.9) |
|
| rs4886406 |
|
G |
T |
|
GG |
GT |
TT |
|
| 12-19 |
28.7 (25.2, 32.5) |
71.3 (67.5, 74.8) |
0.822 |
8.8 (5.4, 14.1) |
39.8 (34.5, 45.4) |
51.4 (46.6, 56.1) |
0.966 |
| 20-39 |
30.0 (27.9, 32.2) |
70.0 (67.8, 72.1) |
9.1 (7.4, 11.2) |
41.8 (39.3, 44.4) |
49.1 (46.0, 52.1) |
| 40-59 |
29.2 (26.9, 31.7) |
70.8 (68.3, 73.1) |
9.1 (6.8, 12.1) |
40.2 (36.1, 44.4) |
50.7 (47.1, 54.2) |
| >=60 |
28.9 (26.8, 31.1) |
71.1 (68.9, 73.2) |
8.5 (7.3, 9.9) |
40.8 (37.2, 44.5) |
50.7 (46.9, 54.5) |
| Total |
29.4 (28.1, 30.7) |
70.6 (69.3, 71.9) |
|
9.0 (7.9, 10.2) |
40.9 (38.9, 42.9) |
50.1 (48.1, 52.2) |
|
* Includes all participants, regardless of race/ethnicity.
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By Sex
| Variant |
Sex |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs11854147 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
59.5 (56.5, 62.5) |
40.5 (37.5, 43.5) |
0.975 |
39.4 (36.1, 42.8) |
40.3 (37.3, 43.3) |
20.3 (17.2, 23.8) |
0.995 |
| Female |
59.6 (56.9, 62.2) |
40.4 (37.8, 43.1) |
39.6 (35.8, 43.4) |
40.0 (37.1, 43.1) |
20.4 (18.5, 22.4) |
| Total |
59.6 (57.2, 61.9) |
40.4 (38.1, 42.8) |
|
39.5 (36.8, 42.2) |
40.1 (38.6, 41.7) |
20.4 (18.2, 22.7) |
|
| rs2069514 |
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
8.9 (7.0, 11.3) |
91.1 (88.7, 93.0) |
0.166 |
2.4 (1.7, 3.5) |
13.0 (10.1, 16.6) |
84.6 (80.5, 88.0) |
0.391 |
| Female |
7.9 (6.8, 9.1) |
92.1 (90.9, 93.2) |
2.0 (1.6, 2.6) |
11.8 (10.0, 14.0) |
86.2 (83.9, 88.1) |
| Total |
8.4 (7.0, 10.0) |
91.6 (90.0, 93.0) |
|
2.2 (1.7, 2.9) |
12.4 (10.2, 15.0) |
85.4 (82.6, 87.9) |
|
| rs4886406 |
|
G |
T |
|
GG |
GT |
TT |
|
| Male |
29.2 (27.0, 31.6) |
70.8 (68.4, 73.0) |
0.819 |
8.7 (7.0, 10.7) |
41.2 (38.1, 44.3) |
50.2 (46.7, 53.6) |
0.845 |
| Female |
29.6 (28.0, 31.2) |
70.4 (68.8, 72.0) |
9.2 (8.1, 10.5) |
40.7 (37.0, 44.5) |
50.1 (46.8, 53.4) |
| Total |
29.4 (28.1, 30.7) |
70.6 (69.3, 71.9) |
|
9.0 (7.9, 10.2) |
40.9 (38.9, 42.9) |
50.1 (48.1, 52.2) |
|
* Includes all participants, regardless of race/ethnicity.
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By Race/Ethnicity and Age
| Variant |
Race-ethnicity |
Age (years) |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs11854147 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
70.6 (65.2, 75.4) |
29.4 (24.6, 34.8) |
52.2 (44.3, 59.9) |
36.8 (29.8, 44.4) |
11.0 (7.5, 15.9) |
| 20-39 |
68.3 (65.3, 71.2) |
31.7 (28.8, 34.7) |
48.2 (44.5, 51.9) |
40.3 (37.3, 43.4) |
11.5 (8.9, 14.7) |
| 40-59 |
68.5 (65.6, 71.3) |
31.5 (28.7, 34.4) |
49.2 (45.8, 52.7) |
38.6 (35.4, 41.9) |
12.2 (9.4, 15.6) |
| >=60 |
68.2 (66.5, 69.9) |
31.8 (30.1, 33.5) |
49.0 (46.2, 51.8) |
38.5 (34.8, 42.2) |
12.6 (10.6, 14.9) |
| Non-Hispanic Black |
12-19 |
24.8 (20.3, 29.9) |
75.2 (70.1, 79.7) |
6.3 (4.4, 9.0) |
36.9 (30.2, 44.3) |
56.7 (48.4, 64.6) |
| 20-39 |
29.5 (27.1, 32.0) |
70.5 (68.0, 72.9) |
9.9 (7.5, 13.1) |
39.2 (35.7, 42.7) |
50.9 (47.7, 54.1) |
| 40-59 |
25.9 (23.3, 28.7) |
74.1 (71.3, 76.7) |
7.8 (5.3, 11.4) |
36.3 (32.1, 40.7) |
55.9 (52.1, 59.7) |
| >=60 |
30.6 (24.8, 37.2) |
69.4 (62.8, 75.2) |
8.8 (6.1, 12.5) |
43.6 (34.2, 53.5) |
47.5 (37.1, 58.2) |
| Mexican American |
12-19 |
37.2 (32.9, 41.6) |
62.8 (58.4, 67.1) |
15.1 (9.9, 22.3) |
44.2 (37.5, 51.1) |
40.7 (35.9, 45.7) |
| 20-39 |
37.3 (34.1, 40.7) |
62.7 (59.3, 65.9) |
14.9 (12.6, 17.6) |
44.9 (40.8, 49.0) |
40.2 (35.5, 45.1) |
| 40-59 |
43.2 (35.9, 50.8) |
56.8 (49.2, 64.1) |
22.1 (15.3, 30.9) |
42.2 (36.3, 48.4) |
35.6 (27.7, 44.4) |
| >=60 |
38.3 (34.2, 42.6) |
61.7 (57.4, 65.8) |
14.6 (11.6, 18.1) |
47.6 (41.6, 53.6) |
37.9 (31.6, 44.6) |
| rs2069514 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
2.0 (0.8, 5.2) |
98.0 (94.8, 99.2) |
0.2 (0.0, 1.9) |
3.5 (1.2, 9.9) |
96.2 (90.0, 98.6) |
| 20-39 |
1.7 (0.7, 4.1) |
98.3 (95.9, 99.3) |
0.0 (NA) |
3.3 (1.3, 8.2) |
96.7 (91.8, 98.7) |
| 40-59 |
1.2 (0.7, 2.2) |
98.8 (97.8, 99.3) |
0.4 (0.0, 2.9) |
1.7 (0.9, 3.2) |
97.9 (96.7, 98.7) |
| >=60 |
1.8 (1.3, 2.4) |
98.2 (97.6, 98.7) |
0.0 (NA) |
3.5 (2.7, 4.7) |
96.5 (95.3, 97.3) |
| Non-Hispanic Black |
12-19 |
30.5 (27.2, 34.1) |
69.5 (65.9, 72.8) |
8.8 (6.0, 12.6) |
43.6 (37.7, 49.7) |
47.7 (42.1, 53.3) |
| 20-39 |
24.9 (22.7, 27.3) |
75.1 (72.7, 77.3) |
5.2 (3.5, 7.7) |
39.4 (34.2, 44.8) |
55.4 (50.9, 59.9) |
| 40-59 |
27.2 (24.3, 30.4) |
72.8 (69.6, 75.7) |
7.5 (5.5, 10.2) |
39.4 (34.3, 44.8) |
53.1 (47.9, 58.2) |
| >=60 |
23.2 (20.1, 26.7) |
76.8 (73.3, 79.9) |
4.3 (2.2, 8.2) |
37.9 (31.3, 44.9) |
57.8 (51.6, 63.8) |
| Mexican American |
12-19 |
34.5 (27.5, 42.3) |
65.5 (57.7, 72.5) |
14.4 (9.0, 22.1) |
40.3 (31.9, 49.3) |
45.3 (35.3, 55.7) |
| 20-39 |
34.3 (31.9, 36.7) |
65.7 (63.3, 68.1) |
11.8 (9.4, 14.8) |
44.8 (41.7, 48.1) |
43.3 (40.4, 46.3) |
| 40-59 |
32.5 (27.6, 37.9) |
67.5 (62.1, 72.4) |
10.5 (6.6, 16.4) |
43.9 (39.2, 48.8) |
45.5 (39.2, 52.0) |
| >=60 |
31.1 (25.6, 37.3) |
68.9 (62.7, 74.4) |
13.7 (9.6, 19.1) |
34.9 (28.5, 41.9) |
51.4 (43.2, 59.6) |
| rs4886406 |
|
|
G |
T |
GG |
GT |
TT |
| Non-Hispanic White |
12-19 |
26.6 (22.2, 31.4) |
73.4 (68.6, 77.8) |
7.9 (4.9, 12.5) |
37.3 (30.4, 44.7) |
54.8 (47.4, 62.0) |
| 20-39 |
28.5 (26.1, 31.1) |
71.5 (68.9, 73.9) |
8.8 (6.6, 11.6) |
39.4 (36.5, 42.3) |
51.8 (48.5, 55.1) |
| 40-59 |
27.9 (25.3, 30.7) |
72.1 (69.3, 74.7) |
8.4 (5.6, 12.5) |
39.0 (34.5, 43.7) |
52.6 (48.8, 56.3) |
| >=60 |
27.3 (25.3, 29.3) |
72.7 (70.7, 74.7) |
7.8 (6.5, 9.4) |
38.9 (35.3, 42.6) |
53.3 (49.7, 56.8) |
| Non-Hispanic Black |
12-19 |
34.5 (31.1, 38.1) |
65.5 (61.9, 68.9) |
9.0 (7.0, 11.3) |
51.1 (44.0, 58.1) |
40.0 (33.5, 46.9) |
| 20-39 |
37.2 (34.4, 40.0) |
62.8 (60.0, 65.6) |
13.6 (11.2, 16.4) |
47.1 (43.5, 50.8) |
39.3 (35.4, 43.4) |
| 40-59 |
41.6 (37.2, 46.1) |
58.4 (53.9, 62.8) |
17.1 (12.9, 22.3) |
48.9 (43.3, 54.6) |
34.0 (28.5, 40.0) |
| >=60 |
41.4 (36.2, 46.8) |
58.6 (53.2, 63.8) |
15.8 (10.3, 23.5) |
51.1 (42.9, 59.3) |
33.1 (26.5, 40.3) |
| Mexican American |
12-19 |
26.0 (22.9, 29.5) |
74.0 (70.5, 77.1) |
7.8 (5.7, 10.6) |
36.5 (30.9, 42.5) |
55.7 (49.9, 61.4) |
| 20-39 |
27.5 (24.9, 30.2) |
72.5 (69.8, 75.1) |
8.0 (5.7, 11.1) |
39.0 (36.3, 41.7) |
53.0 (49.7, 56.3) |
| 40-59 |
24.5 (21.2, 28.1) |
75.5 (71.9, 78.8) |
5.0 (3.3, 7.6) |
38.9 (32.6, 45.6) |
56.0 (49.6, 62.3) |
| >=60 |
27.6 (24.4, 31.0) |
72.4 (69.0, 75.6) |
6.9 (4.4, 10.7) |
41.2 (37.0, 45.6) |
51.8 (47.2, 56.4) |
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By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs11854147 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
68.5 (65.2, 71.6) |
31.5 (28.4, 34.8) |
48.7 (44.6, 52.9) |
39.6 (36.1, 43.1) |
11.7 (9.0, 15.1) |
| Female |
68.8 (66.9, 70.6) |
31.2 (29.4, 33.1) |
49.5 (46.4, 52.6) |
38.4 (35.1, 41.9) |
12.0 (10.4, 13.9) |
| Non-Hispanic Black |
Male |
27.7 (25.2, 30.3) |
72.3 (69.7, 74.8) |
9.2 (7.6, 11.1) |
36.9 (33.4, 40.5) |
53.9 (49.8, 57.9) |
| Female |
28.1 (25.3, 31.1) |
71.9 (68.9, 74.7) |
8.0 (5.8, 11.0) |
40.1 (37.8, 42.4) |
51.9 (48.2, 55.5) |
| Mexican American |
Male |
39.4 (35.6, 43.2) |
60.6 (56.8, 64.4) |
17.4 (14.1, 21.3) |
43.9 (39.4, 48.5) |
38.7 (33.7, 43.9) |
| Female |
37.9 (33.7, 42.4) |
62.1 (57.6, 66.3) |
15.4 (11.7, 20.1) |
44.9 (41.6, 48.3) |
39.6 (34.6, 44.9) |
| rs2069514 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
2.1 (1.1, 4.0) |
97.9 (96.0, 98.9) |
0.2 (0.0, 1.8) |
3.7 (1.9, 7.1) |
96.1 (92.6, 97.9) |
| Female |
1.1 (0.7, 1.9) |
98.9 (98.1, 99.3) |
0.1 (0.0, 0.4) |
2.2 (1.3, 3.7) |
97.8 (96.3, 98.7) |
| Non-Hispanic Black |
Male |
26.3 (24.7, 28.0) |
73.7 (72.0, 75.3) |
6.4 (4.8, 8.4) |
39.8 (36.1, 43.7) |
53.8 (50.7, 56.8) |
| Female |
26.2 (24.3, 28.2) |
73.8 (71.8, 75.7) |
6.2 (4.9, 8.0) |
40.0 (35.5, 44.7) |
53.7 (49.8, 57.7) |
| Mexican American |
Male |
32.7 (28.6, 37.1) |
67.3 (62.9, 71.4) |
11.5 (8.4, 15.5) |
42.4 (38.2, 46.6) |
46.1 (40.5, 51.9) |
| Female |
34.7 (31.0, 38.6) |
65.3 (61.4, 69.0) |
13.0 (9.6, 17.3) |
43.5 (38.5, 48.6) |
43.6 (38.4, 48.8) |
| rs4886406 |
|
|
G |
T |
GG |
GT |
TT |
| Non-Hispanic White |
Male |
27.5 (24.7, 30.5) |
72.5 (69.5, 75.3) |
7.7 (5.8, 10.3) |
39.6 (36.5, 42.8) |
52.7 (48.6, 56.7) |
| Female |
28.1 (26.5, 29.7) |
71.9 (70.3, 73.5) |
9.0 (7.8, 10.2) |
38.3 (34.4, 42.3) |
52.8 (49.4, 56.1) |
| Non-Hispanic Black |
Male |
38.8 (35.6, 42.1) |
61.2 (57.9, 64.4) |
14.1 (12.0, 16.6) |
49.4 (44.5, 54.3) |
36.5 (31.5, 41.9) |
| Female |
38.0 (35.0, 41.0) |
62.0 (59.0, 65.0) |
13.8 (11.5, 16.4) |
48.4 (44.7, 52.1) |
37.8 (33.6, 42.3) |
| Mexican American |
Male |
26.7 (23.5, 30.2) |
73.3 (69.8, 76.5) |
6.6 (4.8, 9.0) |
40.2 (36.4, 44.2) |
53.2 (48.0, 58.3) |
| Female |
26.4 (24.4, 28.5) |
73.6 (71.5, 75.6) |
7.9 (6.2, 10.0) |
37.0 (34.4, 39.6) |
55.1 (52.2, 58.0) |
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