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U.S. Genome Variation Estimates

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

 

Allele and Genotype Frequencies for Subpopulations

 


 

By Race/Ethnicity

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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