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U.S. Genome Variation Estimates

CYP3A4 Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs2740574

-391A>GTaqMan

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‡
rs2740574AGAAAGGG
Non-Hispanic White95.9 (95.1, 96.6)4.1 (3.4, 4.9)<0.00192.4 (90.9, 93.6)7.1 (5.8, 8.7)0.5 (0.2, 1.4)<0.0010.22
Non-Hispanic Black36.0 (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 American92.3 (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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs2740574AGAAAGGG
12-1986.3 (82.6, 89.3)13.7 (10.7, 17.4)0.00380.0 (75.0, 84.1)12.6 (10.0, 15.9)7.4 (5.4, 10.2)0.009
20-3987.5 (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)
40-5989.1 (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)
>=6090.3 (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)
Total88.3 (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*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs2740574AGAAAGGG
Male88.7 (86.6, 90.6)11.3 (9.4, 13.4)0.14582.6 (79.5, 85.2)12.3 (10.3, 14.5)5.2 (3.9, 6.8)0.312
Female87.9 (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)
Total88.3 (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

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs2740574AGAAAGGG
Non-Hispanic White12-1997.8 (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)
20-3996.0 (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)
40-5995.5 (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)
>=6095.4 (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 Black12-1934.5 (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)
20-3936.6 (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)
40-5936.4 (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)
>=6035.4 (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 American12-1992.3 (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)
20-3992.0 (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)
40-5992.8 (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)
>=6093.0 (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

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs2740574AGAAAGGG
Non-Hispanic WhiteMale95.6 (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)
Female96.2 (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 BlackMale35.7 (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)
Female36.2 (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 AmericanMale92.6 (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)
Female92.1 (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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