ABCB1 Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
rs number
|
Nucleotide change |
Amino acid |
Genotyping method
|
rs1045642
|
Ex27-55T>C T3435C
|
Ile1145Ile
|
TaqMan
|
Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
rs1045642 |
|
C |
T |
|
CC |
CT |
TT |
|
|
Non-Hispanic White |
48.4 (46.8, 50.0) |
51.6 (50.0, 53.2) |
<0.001 |
24.4 (22.8, 26.0) |
48.0 (46.3, 49.7) |
27.6 (25.6, 29.7) |
<0.001 |
0.02 |
Non-Hispanic Black |
79.1 (77.6, 80.5) |
20.9 (19.5, 22.4) |
63.3 (60.6, 65.8) |
31.6 (28.9, 34.3) |
5.2 (4.3, 6.2) |
0.07 |
Mexican American |
55.3 (52.8, 57.7) |
44.7 (42.3, 47.2) |
30.7 (27.9, 33.6) |
49.2 (46.8, 51.5) |
20.2 (17.7, 22.9) |
0.93 |
Total* |
52.7 (51.0, 54.4) |
47.3 (45.6, 49.0) |
|
29.6 (27.8, 31.5) |
46.2 (44.5, 47.9) |
24.2 (22.3, 26.1) |
|
|
* 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 |
rs1045642 |
|
C |
T |
|
CC |
CT |
TT |
|
12-19 |
53.8 (48.3, 59.3) |
46.2 (40.7, 51.7) |
0.413 |
31.3 (25.0, 38.2) |
45.2 (40.0, 50.4) |
23.6 (18.5, 29.5) |
0.073 |
20-39 |
54.1 (50.6, 57.5) |
45.9 (42.5, 49.4) |
31.6 (27.8, 35.6) |
45.1 (40.7, 49.5) |
23.3 (19.3, 27.9) |
40-59 |
51.6 (49.2, 54.0) |
48.4 (46.0, 50.8) |
26.8 (24.3, 29.5) |
49.7 (46.6, 52.7) |
23.6 (20.7, 26.7) |
>=60 |
50.7 (47.5, 53.8) |
49.3 (46.2, 52.5) |
28.5 (25.1, 32.1) |
44.4 (41.5, 47.4) |
27.1 (23.8, 30.7) |
Total |
52.7 (51.0, 54.4) |
47.3 (45.6, 49.0) |
|
29.6 (27.8, 31.5) |
46.2 (44.5, 47.9) |
24.2 (22.3, 26.1) |
|
* 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 |
rs1045642 |
|
C |
T |
|
CC |
CT |
TT |
|
Male |
53.4 (51.4, 55.4) |
46.6 (44.6, 48.6) |
0.397 |
29.7 (26.9, 32.6) |
47.5 (44.3, 50.6) |
22.8 (20.7, 25.1) |
0.273 |
Female |
52.1 (49.4, 54.7) |
47.9 (45.3, 50.6) |
29.5 (26.5, 32.7) |
45.1 (42.7, 47.5) |
25.4 (22.7, 28.3) |
Total |
52.7 (51.0, 54.4) |
47.3 (45.6, 49.0) |
|
29.6 (27.8, 31.5) |
46.2 (44.5, 47.9) |
24.2 (22.3, 26.1) |
|
* 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) |
rs1045642 |
|
|
C |
T |
CC |
CT |
TT |
Non-Hispanic White |
12-19 |
49.8 (43.6, 55.9) |
50.2 (44.1, 56.4) |
25.8 (19.5, 33.4) |
47.8 (42.6, 53.1) |
26.3 (20.4, 33.2) |
20-39 |
49.6 (45.1, 54.1) |
50.4 (45.9, 54.9) |
26.5 (21.8, 31.7) |
46.2 (41.7, 50.8) |
27.3 (22.5, 32.8) |
40-59 |
47.2 (44.3, 50.1) |
52.8 (49.9, 55.7) |
21.2 (17.8, 25.1) |
52.0 (48.0, 55.9) |
26.8 (23.6, 30.2) |
>=60 |
47.1 (44.3, 50.0) |
52.9 (50.0, 55.7) |
24.2 (21.1, 27.6) |
45.8 (42.5, 49.3) |
30.0 (26.6, 33.5) |
Non-Hispanic Black |
12-19 |
78.4 (75.6, 81.0) |
21.6 (19.0, 24.4) |
61.1 (56.4, 65.6) |
34.7 (30.0, 39.7) |
4.2 (2.4, 7.3) |
20-39 |
78.5 (75.4, 81.3) |
21.5 (18.7, 24.6) |
62.6 (57.2, 67.6) |
31.9 (27.1, 37.0) |
5.6 (4.2, 7.4) |
40-59 |
79.8 (77.1, 82.2) |
20.2 (17.8, 22.9) |
65.4 (61.0, 69.5) |
28.9 (24.5, 33.6) |
5.8 (3.9, 8.5) |
>=60 |
80.3 (75.4, 84.4) |
19.7 (15.6, 24.6) |
64.6 (56.3, 72.1) |
31.3 (24.5, 39.2) |
4.1 (2.6, 6.4) |
Mexican American |
12-19 |
53.4 (45.7, 61.0) |
46.6 (39.0, 54.3) |
30.4 (23.6, 38.2) |
46.1 (41.1, 51.1) |
23.5 (15.8, 33.5) |
20-39 |
54.7 (52.8, 56.6) |
45.3 (43.4, 47.2) |
28.9 (25.8, 32.2) |
51.7 (48.2, 55.2) |
19.4 (17.7, 21.2) |
40-59 |
58.2 (53.6, 62.6) |
41.8 (37.4, 46.4) |
35.8 (29.8, 42.2) |
44.9 (39.7, 50.2) |
19.4 (15.7, 23.7) |
>=60 |
55.4 (49.5, 61.1) |
44.6 (38.9, 50.5) |
29.1 (23.0, 36.0) |
52.5 (46.1, 58.9) |
18.4 (12.6, 26.0) |
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By Race/Ethnicity and Sex
Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
rs1045642 |
|
|
C |
T |
CC |
CT |
TT |
Non-Hispanic White |
Male |
50.1 (47.9, 52.3) |
49.9 (47.7, 52.1) |
25.6 (22.5, 28.9) |
49.1 (45.5, 52.6) |
25.4 (23.1, 27.8) |
Female |
46.8 (44.1, 49.5) |
53.2 (50.5, 55.9) |
23.3 (20.4, 26.4) |
47.0 (44.1, 49.9) |
29.7 (26.7, 32.9) |
Non-Hispanic Black |
Male |
78.7 (77.0, 80.3) |
21.3 (19.7, 23.0) |
62.5 (59.2, 65.8) |
32.3 (28.6, 36.2) |
5.2 (4.0, 6.7) |
Female |
79.4 (77.5, 81.1) |
20.6 (18.9, 22.5) |
63.9 (61.0, 66.7) |
31.0 (28.3, 33.8) |
5.2 (3.8, 6.9) |
Mexican American |
Male |
55.0 (52.4, 57.5) |
45.0 (42.5, 47.6) |
30.2 (26.4, 34.3) |
49.6 (45.6, 53.6) |
20.2 (18.0, 22.6) |
Female |
55.6 (51.7, 59.4) |
44.4 (40.6, 48.3) |
31.2 (27.0, 35.7) |
48.7 (43.9, 53.6) |
20.0 (15.7, 25.3) |
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