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U.S. Genome Variation Estimates

CYP3A4 Allele and Genotype Frequencies

Available polymorphism(s)

  Common Designations  

rs number

Nucleotide change Amino acid change

Genotyping method

rs2740574

-391A>G   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‡
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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