CYP1B1 Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
|
rs number
|
Nucleotide change |
Amino acid change |
Genotyping method
|
| rs1056836 |
Ex3+251G>C |
Val432Leu |
TaqMan |
| rs1056837 |
Ex3+304T>C |
Asp449Asp |
TaqMan |
| rs162557 |
-2919C>T |
|
TaqMan |
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs1056836 |
|
C |
G |
|
CC |
CG |
GG |
|
|
| Non-Hispanic White |
54.8 (53.2, 56.4) |
45.2 (43.6, 46.8) |
<0.001 |
30.7 (29.1, 32.4) |
48.2 (45.2, 51.1) |
21.1 (18.7, 23.8) |
<0.001 |
0.42 |
| Non-Hispanic Black |
25.0 (23.5, 26.5) |
75.0 (73.5, 76.5) |
5.9 (4.8, 7.3) |
38.2 (35.8, 40.7) |
55.9 (53.5, 58.3) |
0.14 |
| Mexican American |
73.5 (71.1, 75.7) |
26.5 (24.3, 28.9) |
55.3 (52.0, 58.4) |
36.4 (34.2, 38.7) |
8.3 (6.9, 10.1) |
0.02 |
| Total* |
54.0 (52.2, 55.9) |
46.0 (44.1, 47.8) |
|
31.3 (29.6, 33.0) |
45.5 (43.1, 47.9) |
23.2 (20.7, 26.0) |
|
|
| rs1056837 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
55.0 (53.3, 56.7) |
45.0 (43.3, 46.7) |
<0.001 |
31.0 (29.2, 32.9) |
47.9 (44.9, 50.9) |
21.0 (18.5, 23.7) |
<0.001 |
0.21 |
| Non-Hispanic Black |
27.3 (25.7, 29.0) |
72.7 (71.0, 74.3) |
7.2 (6.0, 8.8) |
40.1 (37.1, 43.1) |
52.6 (49.8, 55.5) |
0.52 |
| Mexican American |
73.7 (71.2, 76.0) |
26.3 (24.0, 28.8) |
55.9 (52.8, 59.0) |
35.5 (33.7, 37.4) |
8.6 (6.7, 10.8) |
0.01 |
| Total* |
54.5 (52.7, 56.3) |
45.5 (43.7, 47.3) |
|
31.7 (30.0, 33.5) |
45.5 (43.1, 48.0) |
22.7 (20.3, 25.4) |
|
|
| rs162557 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
76.8 (74.8, 78.7) |
23.2 (21.3, 25.2) |
<0.001 |
59.2 (56.5, 61.7) |
35.2 (33.4, 37.0) |
5.6 (4.2, 7.4) |
<0.001 |
0.81 |
| Non-Hispanic Black |
78.4 (76.6, 80.0) |
21.6 (20.0, 23.4) |
61.2 (58.1, 64.2) |
34.2 (31.2, 37.5) |
4.5 (3.5, 5.9) |
0.64 |
| Mexican American |
86.9 (85.3, 88.4) |
13.1 (11.6, 14.7) |
75.6 (72.6, 78.4) |
22.6 (20.0, 25.5) |
1.7 (1.2, 2.5) |
0.99 |
| Total* |
78.6 (76.9, 80.2) |
21.4 (19.8, 23.1) |
|
62.1 (59.7, 64.4) |
33.1 (31.3, 34.9) |
4.8 (3.7, 6.3) |
|
|
* 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 |
| rs1056836 |
|
C |
G |
|
CC |
CG |
GG |
|
| 12-19 |
50.6 (45.6, 55.6) |
49.4 (44.4, 54.4) |
0.224 |
26.9 (22.4, 32.1) |
47.3 (41.8, 52.8) |
25.8 (19.9, 32.7) |
0.312 |
| 20-39 |
54.9 (52.3, 57.5) |
45.1 (42.5, 47.7) |
32.6 (29.5, 35.8) |
44.7 (41.4, 48.1) |
22.7 (19.9, 25.8) |
| 40-59 |
53.1 (49.3, 56.8) |
46.9 (43.2, 50.7) |
30.2 (26.3, 34.3) |
45.8 (42.6, 48.9) |
24.1 (20.1, 28.5) |
| >=60 |
56.1 (52.7, 59.3) |
43.9 (40.7, 47.3) |
33.3 (29.5, 37.3) |
45.5 (41.8, 49.2) |
21.2 (17.8, 25.1) |
| Total |
54.0 (52.2, 55.9) |
46.0 (44.1, 47.8) |
|
31.3 (29.6, 33.0) |
45.5 (43.1, 47.9) |
23.2 (20.7, 26.0) |
|
| rs1056837 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
50.9 (46.1, 55.7) |
49.1 (44.3, 53.9) |
0.133 |
27.2 (22.7, 32.3) |
47.3 (42.0, 52.7) |
25.5 (19.8, 32.1) |
0.245 |
| 20-39 |
55.2 (52.8, 57.6) |
44.8 (42.4, 47.2) |
32.8 (29.8, 36.0) |
44.8 (41.3, 48.3) |
22.4 (19.7, 25.4) |
| 40-59 |
53.4 (49.6, 57.2) |
46.6 (42.8, 50.4) |
30.4 (26.6, 34.5) |
46.0 (43.0, 49.0) |
23.6 (19.7, 28.1) |
| >=60 |
57.3 (54.1, 60.4) |
42.7 (39.6, 45.9) |
34.7 (30.9, 38.7) |
45.1 (41.0, 49.4) |
20.2 (16.8, 24.1) |
| Total |
54.5 (52.7, 56.3) |
45.5 (43.7, 47.3) |
|
31.7 (30.0, 33.5) |
45.5 (43.1, 48.0) |
22.7 (20.3, 25.4) |
|
| rs162557 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
80.7 (78.2, 83.0) |
19.3 (17.0, 21.8) |
0.096 |
64.3 (59.7, 68.6) |
32.8 (28.2, 37.7) |
2.9 (1.6, 5.3) |
0.023 |
| 20-39 |
79.4 (77.8, 80.9) |
20.6 (19.1, 22.2) |
63.8 (61.0, 66.5) |
31.2 (27.7, 34.9) |
5.0 (3.3, 7.5) |
| 40-59 |
77.4 (73.7, 80.8) |
22.6 (19.2, 26.3) |
60.3 (54.5, 65.8) |
34.3 (29.7, 39.2) |
5.4 (3.7, 7.9) |
| >=60 |
77.3 (75.4, 79.1) |
22.7 (20.9, 24.6) |
59.6 (56.5, 62.6) |
35.4 (32.4, 38.5) |
5.0 (3.7, 6.7) |
| Total |
78.6 (76.9, 80.2) |
21.4 (19.8, 23.1) |
|
62.1 (59.7, 64.4) |
33.1 (31.3, 34.9) |
4.8 (3.7, 6.3) |
|
* 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 |
| rs1056836 |
|
C |
G |
|
CC |
CG |
GG |
|
| Male |
54.8 (51.4, 58.1) |
45.2 (41.9, 48.6) |
0.398 |
32.4 (29.1, 35.8) |
44.9 (42.0, 47.9) |
22.7 (19.0, 26.9) |
0.660 |
| Female |
53.3 (51.6, 55.0) |
46.7 (45.0, 48.4) |
30.3 (28.1, 32.6) |
46.0 (42.9, 49.2) |
23.7 (21.4, 26.1) |
| Total |
54.0 (52.2, 55.9) |
46.0 (44.1, 47.8) |
|
31.3 (29.6, 33.0) |
45.5 (43.1, 47.9) |
23.2 (20.7, 26.0) |
|
| rs1056837 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
55.2 (52.2, 58.2) |
44.8 (41.8, 47.8) |
0.358 |
32.4 (29.5, 35.4) |
45.7 (42.7, 48.8) |
21.9 (18.4, 25.8) |
0.615 |
| Female |
53.8 (52.0, 55.6) |
46.2 (44.4, 48.0) |
31.1 (28.8, 33.5) |
45.4 (42.4, 48.4) |
23.5 (21.3, 25.9) |
| Total |
54.5 (52.7, 56.3) |
45.5 (43.7, 47.3) |
|
31.7 (30.0, 33.5) |
45.5 (43.1, 48.0) |
22.7 (20.3, 25.4) |
|
| rs162557 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
79.3 (77.1, 81.3) |
20.7 (18.7, 22.9) |
0.261 |
63.5 (60.3, 66.6) |
31.7 (29.0, 34.5) |
4.8 (3.4, 6.8) |
0.384 |
| Female |
78.0 (75.8, 80.0) |
22.0 (20.0, 24.2) |
60.8 (57.7, 63.8) |
34.4 (31.7, 37.2) |
4.8 (3.3, 7.0) |
| Total |
78.6 (76.9, 80.2) |
21.4 (19.8, 23.1) |
|
62.1 (59.7, 64.4) |
33.1 (31.3, 34.9) |
4.8 (3.7, 6.3) |
|
* 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) |
| rs1056836 |
|
|
C |
G |
CC |
CG |
GG |
| Non-Hispanic White |
12-19 |
51.4 (45.0, 57.8) |
48.6 (42.2, 55.0) |
27.1 (21.5, 33.6) |
48.6 (41.9, 55.3) |
24.3 (17.0, 33.4) |
| 20-39 |
55.5 (52.1, 58.9) |
44.5 (41.1, 47.9) |
31.4 (27.4, 35.7) |
48.2 (44.1, 52.3) |
20.4 (16.9, 24.3) |
| 40-59 |
53.2 (49.1, 57.3) |
46.8 (42.7, 50.9) |
29.1 (24.7, 33.8) |
48.3 (44.3, 52.4) |
22.6 (18.3, 27.5) |
| >=60 |
57.5 (54.4, 60.7) |
42.5 (39.3, 45.6) |
33.7 (29.7, 38.0) |
47.6 (42.8, 52.5) |
18.6 (15.1, 22.7) |
| Non-Hispanic Black |
12-19 |
26.3 (23.0, 29.8) |
73.7 (70.2, 77.0) |
6.2 (3.7, 10.1) |
40.2 (34.6, 46.1) |
53.6 (48.1, 59.1) |
| 20-39 |
25.1 (22.7, 27.7) |
74.9 (72.3, 77.3) |
6.6 (4.8, 9.1) |
37.1 (32.5, 41.8) |
56.4 (51.9, 60.7) |
| 40-59 |
24.0 (21.3, 26.9) |
76.0 (73.1, 78.7) |
5.2 (3.4, 7.9) |
37.5 (33.9, 41.1) |
57.3 (53.0, 61.4) |
| >=60 |
24.8 (20.7, 29.5) |
75.2 (70.5, 79.3) |
4.7 (2.4, 9.2) |
40.2 (34.8, 46.0) |
55.0 (48.3, 61.6) |
| Mexican American |
12-19 |
73.1 (69.9, 76.1) |
26.9 (23.9, 30.1) |
56.2 (51.4, 60.9) |
33.9 (29.1, 39.0) |
9.9 (7.3, 13.3) |
| 20-39 |
72.8 (69.8, 75.6) |
27.2 (24.4, 30.2) |
54.4 (50.5, 58.3) |
36.9 (34.2, 39.6) |
8.7 (6.7, 11.4) |
| 40-59 |
74.1 (70.7, 77.2) |
25.9 (22.8, 29.3) |
55.2 (49.6, 60.6) |
37.9 (32.4, 43.6) |
7.0 (4.8, 10.0) |
| >=60 |
76.4 (72.3, 80.1) |
23.6 (19.9, 27.7) |
58.4 (53.0, 63.6) |
36.0 (30.7, 41.8) |
5.6 (2.6, 11.6) |
| rs1056837 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
51.0 (44.6, 57.4) |
49.0 (42.6, 55.4) |
27.0 (21.2, 33.7) |
48.0 (41.9, 54.2) |
25.0 (18.0, 33.7) |
| 20-39 |
55.6 (52.5, 58.7) |
44.4 (41.3, 47.5) |
31.5 (27.7, 35.6) |
48.2 (44.0, 52.3) |
20.3 (17.1, 24.0) |
| 40-59 |
53.3 (49.2, 57.2) |
46.7 (42.8, 50.8) |
29.1 (24.9, 33.6) |
48.3 (44.5, 52.2) |
22.6 (18.3, 27.4) |
| >=60 |
58.6 (55.4, 61.6) |
41.4 (38.4, 44.6) |
35.1 (30.9, 39.5) |
47.0 (42.0, 52.1) |
17.9 (14.5, 21.9) |
| Non-Hispanic Black |
12-19 |
29.5 (26.5, 32.7) |
70.5 (67.3, 73.5) |
7.8 (5.2, 11.4) |
43.5 (39.3, 47.8) |
48.7 (44.3, 53.2) |
| 20-39 |
26.6 (23.9, 29.6) |
73.4 (70.4, 76.1) |
7.6 (5.5, 10.4) |
38.1 (32.7, 43.8) |
54.3 (49.2, 59.3) |
| 40-59 |
26.9 (23.5, 30.5) |
73.1 (69.5, 76.5) |
6.9 (4.8, 10.0) |
39.8 (35.1, 44.8) |
53.2 (47.8, 58.6) |
| >=60 |
27.2 (23.1, 31.7) |
72.8 (68.3, 76.9) |
6.0 (3.4, 10.4) |
42.3 (38.1, 46.6) |
51.6 (45.7, 57.5) |
| Mexican American |
12-19 |
73.5 (70.5, 76.4) |
26.5 (23.6, 29.5) |
57.5 (53.2, 61.8) |
32.0 (27.4, 37.1) |
10.4 (7.6, 14.2) |
| 20-39 |
73.1 (69.7, 76.3) |
26.9 (23.7, 30.3) |
54.8 (50.6, 58.8) |
36.7 (34.2, 39.2) |
8.6 (6.1, 11.9) |
| 40-59 |
74.0 (70.6, 77.1) |
26.0 (22.9, 29.4) |
56.0 (50.5, 61.3) |
36.0 (30.7, 41.6) |
8.1 (5.8, 11.1) |
| >=60 |
76.8 (73.0, 80.2) |
23.2 (19.8, 27.0) |
58.9 (53.5, 64.1) |
35.8 (30.2, 41.7) |
5.3 (2.6, 10.6) |
| rs162557 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
79.3 (76.0, 82.2) |
20.7 (17.8, 24.0) |
61.6 (55.8, 67.2) |
35.3 (29.4, 41.7) |
3.1 (1.4, 6.4) |
| 20-39 |
77.3 (75.2, 79.2) |
22.7 (20.8, 24.8) |
60.6 (56.9, 64.1) |
33.4 (28.7, 38.4) |
6.0 (3.9, 9.1) |
| 40-59 |
75.3 (70.8, 79.3) |
24.7 (20.7, 29.2) |
57.0 (50.3, 63.5) |
36.6 (31.2, 42.3) |
6.4 (4.2, 9.7) |
| >=60 |
76.5 (74.4, 78.5) |
23.5 (21.5, 25.6) |
58.3 (54.9, 61.6) |
36.5 (33.2, 40.0) |
5.2 (3.7, 7.3) |
| Non-Hispanic Black |
12-19 |
79.7 (76.0, 83.0) |
20.3 (17.0, 24.0) |
63.8 (57.7, 69.5) |
31.8 (26.1, 38.1) |
4.3 (2.3, 7.9) |
| 20-39 |
77.7 (74.8, 80.4) |
22.3 (19.6, 25.2) |
61.0 (56.2, 65.7) |
33.3 (28.6, 38.4) |
5.6 (3.8, 8.3) |
| 40-59 |
78.9 (76.6, 81.0) |
21.1 (19.0, 23.4) |
61.5 (57.3, 65.6) |
34.8 (30.4, 39.5) |
3.7 (2.3, 5.8) |
| >=60 |
77.5 (74.5, 80.3) |
22.5 (19.7, 25.5) |
57.9 (52.8, 62.9) |
39.2 (34.4, 44.3) |
2.9 (1.5, 5.3) |
| Mexican American |
12-19 |
84.3 (81.2, 87.1) |
15.7 (12.9, 18.8) |
71.4 (66.2, 76.1) |
25.9 (21.5, 30.9) |
2.7 (1.3, 5.5) |
| 20-39 |
87.7 (85.9, 89.4) |
12.3 (10.6, 14.1) |
76.8 (73.0, 80.2) |
21.8 (18.2, 26.0) |
1.3 (0.8, 2.2) |
| 40-59 |
86.3 (83.4, 88.9) |
13.7 (11.1, 16.6) |
74.8 (69.9, 79.2) |
23.1 (19.0, 27.7) |
2.1 (1.0, 4.5) |
| >=60 |
90.0 (87.6, 92.0) |
10.0 (8.0, 12.4) |
80.8 (75.7, 85.1) |
18.4 (13.7, 24.1) |
0.8 (0.2, 2.9) |
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By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs1056836 |
|
|
C |
G |
CC |
CG |
GG |
| Non-Hispanic White |
Male |
55.3 (51.5, 59.0) |
44.7 (41.0, 48.5) |
31.6 (27.6, 35.8) |
47.3 (43.8, 50.9) |
21.1 (17.2, 25.6) |
| Female |
54.4 (51.9, 56.8) |
45.6 (43.2, 48.1) |
29.9 (26.9, 33.1) |
48.9 (45.2, 52.7) |
21.2 (18.2, 24.4) |
| Non-Hispanic Black |
Male |
24.8 (22.3, 27.4) |
75.2 (72.6, 77.7) |
5.2 (3.8, 7.2) |
39.1 (35.5, 42.8) |
55.7 (51.6, 59.7) |
| Female |
25.2 (22.9, 27.7) |
74.8 (72.3, 77.1) |
6.5 (4.6, 9.1) |
37.4 (34.3, 40.7) |
56.1 (52.6, 59.5) |
| Mexican American |
Male |
73.9 (70.9, 76.7) |
26.1 (23.3, 29.1) |
55.9 (51.5, 60.2) |
36.0 (32.0, 40.2) |
8.1 (6.0, 10.9) |
| Female |
73.0 (69.9, 75.9) |
27.0 (24.1, 30.1) |
54.6 (49.5, 59.5) |
36.9 (32.5, 41.5) |
8.6 (6.9, 10.6) |
| rs1056837 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
55.4 (52.2, 58.6) |
44.6 (41.4, 47.8) |
31.5 (28.1, 35.1) |
47.9 (44.3, 51.5) |
20.6 (17.1, 24.7) |
| Female |
54.6 (52.0, 57.3) |
45.4 (42.7, 48.0) |
30.6 (27.5, 33.9) |
48.0 (44.5, 51.5) |
21.4 (18.4, 24.7) |
| Non-Hispanic Black |
Male |
27.2 (24.5, 30.0) |
72.8 (70.0, 75.5) |
5.9 (4.2, 8.1) |
42.6 (38.7, 46.5) |
51.6 (47.2, 55.9) |
| Female |
27.4 (25.1, 29.8) |
72.6 (70.2, 74.9) |
8.4 (6.4, 10.9) |
38.1 (35.0, 41.2) |
53.6 (50.2, 56.8) |
| Mexican American |
Male |
74.1 (70.9, 77.1) |
25.9 (22.9, 29.1) |
56.1 (51.6, 60.5) |
36.0 (32.2, 40.0) |
7.9 (5.7, 10.9) |
| Female |
73.3 (70.0, 76.2) |
26.7 (23.8, 30.0) |
55.8 (51.1, 60.4) |
34.9 (30.5, 39.6) |
9.3 (6.9, 12.4) |
| rs162557 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
77.8 (74.9, 80.4) |
22.2 (19.6, 25.1) |
61.2 (57.2, 65.1) |
33.1 (29.9, 36.4) |
5.7 (3.8, 8.4) |
| Female |
75.8 (73.4, 78.1) |
24.2 (21.9, 26.6) |
57.2 (54.0, 60.4) |
37.2 (34.3, 40.3) |
5.5 (3.6, 8.3) |
| Non-Hispanic Black |
Male |
78.7 (76.4, 80.9) |
21.3 (19.1, 23.6) |
61.1 (57.5, 64.6) |
35.2 (32.1, 38.4) |
3.7 (2.4, 5.5) |
| Female |
78.1 (75.3, 80.6) |
21.9 (19.4, 24.7) |
61.3 (56.8, 65.6) |
33.4 (29.5, 37.7) |
5.2 (3.8, 7.2) |
| Mexican American |
Male |
87.5 (85.2, 89.4) |
12.5 (10.6, 14.8) |
76.6 (72.4, 80.4) |
21.7 (18.0, 25.8) |
1.7 (1.0, 2.8) |
| Female |
86.4 (83.7, 88.7) |
13.6 (11.3, 16.3) |
74.6 (70.2, 78.5) |
23.7 (20.4, 27.3) |
1.8 (1.0, 3.0) |
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