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U.S. Genome Variation Estimates

ABCB1 Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid

Genotyping method

rs1045642

Ex27-55T>C T3435C

Ile1145Ile

TaqMan

Allele and Genotype Frequencies for Subpopulations


By Race/Ethnicity

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1045642CTCCCTTT
Non-Hispanic White48.4 (46.8, 50.0)51.6 (50.0, 53.2)<0.00124.4 (22.8, 26.0)48.0 (46.3, 49.7)27.6 (25.6, 29.7)<0.0010.02
Non-Hispanic Black79.1 (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 American55.3 (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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1045642CTCCCTTT
12-1953.8 (48.3, 59.3)46.2 (40.7, 51.7)0.41331.3 (25.0, 38.2)45.2 (40.0, 50.4)23.6 (18.5, 29.5)0.073
20-3954.1 (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)
40-5951.6 (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)
>=6050.7 (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)
Total52.7 (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*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1045642CTCCCTTT
Male53.4 (51.4, 55.4)46.6 (44.6, 48.6)0.39729.7 (26.9, 32.6)47.5 (44.3, 50.6)22.8 (20.7, 25.1)0.273
Female52.1 (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)
Total52.7 (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

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs1045642CTCCCTTT
Non-Hispanic White12-1949.8 (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)
20-3949.6 (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)
40-5947.2 (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)
>=6047.1 (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 Black12-1978.4 (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)
20-3978.5 (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)
40-5979.8 (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)
>=6080.3 (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 American12-1953.4 (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)
20-3954.7 (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)
40-5958.2 (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)
>=6055.4 (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

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1045642CTCCCTTT
Non-Hispanic WhiteMale50.1 (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)
Female46.8 (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 BlackMale78.7 (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)
Female79.4 (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 AmericanMale55.0 (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)
Female55.6 (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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