CYP3A4 Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
|
rs number
|
Nucleotide change |
Amino acid change |
Genotyping method
|
|
rs2740574
|
-391A>G |
|
TaqMan |
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs2740574 |
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
95.9 (95.1, 96.6) |
4.1 (3.4, 4.9) |
<0.001 |
92.4 (90.9, 93.6) |
7.1 (5.8, 8.7) |
0.5 (0.2, 1.4) |
<0.001 |
0.22 |
| Non-Hispanic Black |
36.0 (34.0, 38.0) |
64.0 (62.0, 66.0) |
13.7 (12.0, 15.6) |
44.5 (42.4, 46.6) |
41.8 (39.2, 44.4) |
0.03 |
| Mexican American |
92.3 (90.7, 93.7) |
7.7 (6.3, 9.3) |
85.4 (82.7, 87.8) |
13.8 (11.7, 16.3) |
0.8 (0.4, 1.4) |
0.84 |
| Total* |
88.3 (86.3, 90.1) |
11.7 (9.9, 13.7) |
|
82.0 (79.3, 84.4) |
12.6 (11.1, 14.3) |
5.4 (4.2, 6.9) |
|
|
* 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 |
| rs2740574 |
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
86.3 (82.6, 89.3) |
13.7 (10.7, 17.4) |
0.003 |
80.0 (75.0, 84.1) |
12.6 (10.0, 15.9) |
7.4 (5.4, 10.2) |
0.009 |
| 20-39 |
87.5 (85.1, 89.5) |
12.5 (10.5, 14.9) |
80.6 (77.4, 83.4) |
13.9 (12.1, 15.9) |
5.6 (4.2, 7.4) |
| 40-59 |
89.1 (87.2, 90.8) |
10.9 (9.2, 12.8) |
83.5 (80.6, 86.1) |
11.1 (8.8, 14.0) |
5.3 (4.0, 7.2) |
| >=60 |
90.3 (88.0, 92.2) |
9.7 (7.8, 12.0) |
84.2 (81.0, 86.8) |
12.3 (10.5, 14.3) |
3.6 (2.4, 5.2) |
| Total |
88.3 (86.3, 90.1) |
11.7 (9.9, 13.7) |
|
82.0 (79.3, 84.4) |
12.6 (11.1, 14.3) |
5.4 (4.2, 6.9) |
|
* 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 |
| rs2740574 |
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
88.7 (86.6, 90.6) |
11.3 (9.4, 13.4) |
0.145 |
82.6 (79.5, 85.2) |
12.3 (10.3, 14.5) |
5.2 (3.9, 6.8) |
0.312 |
| Female |
87.9 (85.9, 89.7) |
12.1 (10.3, 14.1) |
81.5 (78.8, 83.8) |
13.0 (11.6, 14.4) |
5.6 (4.3, 7.1) |
| Total |
88.3 (86.3, 90.1) |
11.7 (9.9, 13.7) |
|
82.0 (79.3, 84.4) |
12.6 (11.1, 14.3) |
5.4 (4.2, 6.9) |
|
* 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) |
| rs2740574 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
97.8 (96.0, 98.8) |
2.2 (1.2, 4.0) |
95.5 (92.1, 97.5) |
4.5 (2.5, 7.9) |
0.0 (NA) |
| 20-39 |
96.0 (94.1, 97.3) |
4.0 (2.7, 5.9) |
92.3 (89.0, 94.7) |
7.4 (5.1, 10.6) |
0.3 (0.0, 2.7) |
| 40-59 |
95.5 (93.6, 96.9) |
4.5 (3.1, 6.4) |
92.2 (89.2, 94.4) |
6.6 (4.4, 9.8) |
1.2 (0.4, 3.8) |
| >=60 |
95.4 (94.5, 96.0) |
4.6 (4.0, 5.5) |
90.9 (89.4, 92.3) |
8.9 (7.5, 10.4) |
0.2 (0.0, 1.1) |
| Non-Hispanic Black |
12-19 |
34.5 (30.9, 38.4) |
65.5 (61.6, 69.1) |
15.3 (11.9, 19.3) |
38.6 (34.0, 43.3) |
46.2 (41.1, 51.3) |
| 20-39 |
36.6 (34.4, 38.8) |
63.4 (61.2, 65.6) |
13.3 (11.0, 16.0) |
46.5 (43.2, 49.7) |
40.2 (37.2, 43.3) |
| 40-59 |
36.4 (32.7, 40.3) |
63.6 (59.7, 67.3) |
14.4 (11.0, 18.6) |
44.1 (37.9, 50.4) |
41.6 (35.9, 47.5) |
| >=60 |
35.4 (32.5, 38.4) |
64.6 (61.6, 67.5) |
11.9 (9.5, 14.7) |
47.0 (40.6, 53.6) |
41.1 (35.6, 46.9) |
| Mexican American |
12-19 |
92.3 (90.8, 93.5) |
7.7 (6.5, 9.2) |
84.5 (81.7, 87.0) |
15.5 (13.0, 18.3) |
0.0 (NA) |
| 20-39 |
92.0 (90.3, 93.5) |
8.0 (6.5, 9.7) |
85.1 (82.1, 87.6) |
13.9 (11.6, 16.6) |
1.0 (0.5, 2.3) |
| 40-59 |
92.8 (90.4, 94.7) |
7.2 (5.3, 9.6) |
86.2 (82.3, 89.4) |
13.1 (10.3, 16.6) |
0.6 (0.1, 3.2) |
| >=60 |
93.0 (88.4, 95.9) |
7.0 (4.1, 11.6) |
87.4 (80.1, 92.3) |
11.2 (7.0, 17.5) |
1.4 (0.3, 5.6) |
By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs2740574 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
95.6 (94.1, 96.8) |
4.4 (3.2, 5.9) |
91.9 (89.1, 94.1) |
7.5 (5.3, 10.4) |
0.6 (0.2, 2.2) |
| Female |
96.2 (95.3, 96.9) |
3.8 (3.1, 4.7) |
92.8 (91.4, 94.0) |
6.8 (5.6, 8.2) |
0.4 (0.1, 1.8) |
| Non-Hispanic Black |
Male |
35.7 (33.1, 38.5) |
64.3 (61.5, 66.9) |
13.5 (11.0, 16.5) |
44.4 (40.4, 48.5) |
42.1 (38.2, 46.0) |
| Female |
36.2 (33.7, 38.7) |
63.8 (61.3, 66.3) |
13.9 (11.3, 16.9) |
44.5 (40.2, 49.0) |
41.6 (37.8, 45.4) |
| Mexican American |
Male |
92.6 (91.4, 93.6) |
7.4 (6.4, 8.6) |
85.7 (83.2, 87.9) |
13.7 (11.4, 16.3) |
0.6 (0.3, 1.3) |
| Female |
92.1 (89.9, 93.8) |
7.9 (6.2, 10.1) |
85.1 (81.4, 88.1) |
14.0 (11.4, 17.0) |
0.9 (0.4, 2.2) |
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