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U.S. Genome Variation Estimates

CYP2A6 Allele and Genotype Frequencies

Available polymorphism(s)

  Common Designations  

rs number

Nucleotide change Amino acid change

Genotyping method

rs1801272 Ex3-15T>A Leu160His 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‡
rs1801272 A T   AA AT TT    
Non-Hispanic White 3.3 (2.8, 3.8) 96.7 (96.2, 97.2) <0.001 0.1 (0.0, 0.3) 6.4 (5.5, 7.4) 93.5 (92.5, 94.5) <0.001 0.79
Non-Hispanic Black 0.6 (0.4, 0.9) 99.4 (99.1, 99.6) 0.0 (NA) 1.2 (0.8, 1.8) 98.8 (98.2, 99.2) 0.79
Mexican American 2.0 (1.6, 2.5) 98.0 (97.5, 98.4) 0.0 (0.0, 0.3) 3.9 (3.2, 4.8) 96.0 (95.1, 96.8) 0.93
Total* 2.7 (2.4, 3.1) 97.3 (96.9, 97.6)   0.1 (0.0, 0.3) 5.3 (4.7, 6.1) 94.6 (93.8, 95.3)    

* 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
rs1801272 A T   AA AT TT  
12-19 2.7 (1.8, 4.1) 97.3 (95.9, 98.2) 0.107 0.2 (0.0, 1.6) 5.0 (3.3, 7.6) 94.8 (92.2, 96.5) 0.026
20-39 2.4 (1.8, 3.0) 97.6 (97.0, 98.2) 0.1 (0.0, 0.6) 4.6 (3.6, 5.8) 95.4 (94.1, 96.4)
40-59 3.6 (2.7, 4.6) 96.4 (95.4, 97.3) 0.0 (0.0, 0.1) 7.1 (5.5, 9.2) 92.9 (90.8, 94.5)
>=60 2.3 (1.6, 3.4) 97.7 (96.6, 98.4) 0.0 (NA) 4.7 (3.2, 6.8) 95.3 (93.2, 96.8)
Total 2.7 (2.4, 3.1) 97.3 (96.9, 97.6)   0.1 (0.0, 0.3) 5.3 (4.7, 6.1) 94.6 (93.8, 95.3)  

* 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
rs1801272 A T   AA AT TT  
Male 2.9 (2.2, 3.8) 97.1 (96.2, 97.8) 0.478 0.1 (0.0, 0.5) 5.6 (4.3, 7.2) 94.3 (92.6, 95.6) 0.336
Female 2.6 (2.1, 3.1) 97.4 (96.9, 97.9) 0.0 (NA) 5.1 (4.2, 6.2) 94.9 (93.8, 95.8)
Total 2.7 (2.4, 3.1) 97.3 (96.9, 97.6)   0.1 (0.0, 0.3) 5.3 (4.7, 6.1) 94.6 (93.8, 95.3)  

* 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)
rs1801272 A T AA AT TT
Non-Hispanic White 12-19 3.9 (2.6, 5.7) 96.1 (94.3, 97.4) 0.3 (0.0, 2.4) 7.1 (4.5, 10.8) 92.6 (89.0, 95.1)
20-39 3.0 (2.3, 4.0) 97.0 (96.0, 97.7) 0.1 (0.0, 0.9) 5.9 (4.5, 7.6) 94.0 (92.3, 95.4)
40-59 4.0 (3.0, 5.3) 96.0 (94.7, 97.0) 0.0 (NA) 8.0 (6.0, 10.6) 92.0 (89.4, 94.0)
>=60 2.4 (1.6, 3.5) 97.6 (96.5, 98.4) 0.0 (NA) 4.7 (3.2, 6.9) 95.3 (93.1, 96.8)
Non-Hispanic Black 12-19 0.4 (0.2, 1.2) 99.6 (98.8, 99.8) 0.0 (NA) 0.9 (0.3, 2.4) 99.1 (97.6, 99.7)
20-39 0.4 (0.2, 0.7) 99.6 (99.3, 99.8) 0.0 (NA) 0.8 (0.4, 1.4) 99.2 (98.6, 99.6)
40-59 1.0 (0.5, 2.3) 99.0 (97.7, 99.5) 0.0 (NA) 2.1 (1.0, 4.5) 97.9 (95.5, 99.0)
>=60 0.7 (0.2, 2.1) 99.3 (97.9, 99.8) 0.0 (NA) 1.4 (0.4, 4.1) 98.6 (95.9, 99.6)
Mexican American 12-19 1.5 (1.0, 2.4) 98.5 (97.6, 99.0) 0.0 (NA) 3.1 (1.9, 4.9) 96.9 (95.1, 98.1)
20-39 2.3 (1.5, 3.5) 97.7 (96.5, 98.5) 0.0 (NA) 4.6 (3.0, 6.9) 95.4 (93.1, 97.0)
40-59 1.9 (1.3, 2.7) 98.1 (97.3, 98.7) 0.2 (0.0, 1.5) 3.5 (2.4, 5.0) 96.4 (94.9, 97.5)
>=60 1.7 (0.7, 3.8) 98.3 (96.2, 99.3) 0.0 (NA) 3.4 (1.5, 7.5) 96.6 (92.5, 98.5)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1801272 A T AA AT TT
Non-Hispanic White Male 3.6 (2.6, 4.8) 96.4 (95.2, 97.4) 0.2 (0.0, 0.7) 6.8 (5.0, 9.1) 93.1 (90.7, 94.8)
Female 3.0 (2.4, 3.8) 97.0 (96.2, 97.6) 0.0 (NA) 6.0 (4.8, 7.5) 94.0 (92.5, 95.2)
Non-Hispanic Black Male 0.6 (0.3, 1.3) 99.4 (98.7, 99.7) 0.0 (NA) 1.2 (0.6, 2.5) 98.8 (97.5, 99.4)
Female 0.6 (0.3, 1.1) 99.4 (98.9, 99.7) 0.0 (NA) 1.2 (0.6, 2.2) 98.8 (97.8, 99.4)
Mexican American Male 2.0 (1.4, 2.8) 98.0 (97.2, 98.6) 0.1 (0.0, 0.6) 3.9 (2.8, 5.3) 96.1 (94.6, 97.2)
Female 2.0 (1.4, 2.8) 98.0 (97.2, 98.6) 0.0 (NA) 4.0 (2.8, 5.6) 96.0 (94.4, 97.2)

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