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U.S. Genome Variation Estimates

CYP2E1 Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs2031920

-1054C>T -1053C>TMGB Eclipse

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‡
rs2031920CTCCCTTT
Non-Hispanic White97.8 (97.0, 98.3)2.2 (1.7, 3.0)<0.00195.6 (94.2, 96.8)4.2 (3.1, 5.8)0.1 (0.0, 0.4)<0.0010.16
Non-Hispanic Black99.2 (98.9, 99.5)0.8 (0.5, 1.1)98.5 (97.8, 98.9)1.5 (1.1, 2.2)0.0 (NA)0.73
Mexican American89.3 (88.2, 90.4)10.7 (9.6, 11.8)79.7 (77.4, 81.8)19.3 (16.9, 21.9)1.0 (0.5, 2.0)0.61
Total*96.9 (96.2, 97.4)3.1 (2.6, 3.8)94.0 (92.7, 95.0)5.8 (4.8, 7.0)0.3 (0.1, 0.5)

* 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
rs2031920CTCCCTTT
12-1996.7 (95.4, 97.6)3.3 (2.4, 4.6)0.71893.9 (91.0, 95.9)5.7 (3.5, 9.2)0.5 (0.1, 2.1)0.246
20-3996.6 (95.2, 97.6)3.4 (2.4, 4.8)93.6 (91.1, 95.4)6.1 (4.4, 8.3)0.4 (0.1, 1.1)
40-5997.1 (96.1, 97.9)2.9 (2.1, 3.9)94.3 (92.2, 95.9)5.6 (4.1, 7.7)0.1 (0.0, 0.1)
>=6097.0 (95.8, 97.9)3.0 (2.1, 4.2)94.3 (92.1, 95.9)5.5 (4.0, 7.5)0.2 (0.0, 0.9)
Total96.9 (96.2, 97.4)3.1 (2.6, 3.8)94.0 (92.7, 95.0)5.8 (4.8, 7.0)0.3 (0.1, 0.5)

* 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
rs2031920CTCCCTTT
Male96.6 (95.6, 97.3)3.4 (2.7, 4.4)0.25293.5 (91.6, 95.0)6.1 (4.6, 8.0)0.4 (0.2, 0.9)0.206
Female97.1 (96.3, 97.7)2.9 (2.3, 3.7)94.3 (92.8, 95.6)5.5 (4.3, 7.1)0.1 (0.0, 0.7)
Total96.9 (96.2, 97.4)3.1 (2.6, 3.8)94.0 (92.7, 95.0)5.8 (4.8, 7.0)0.3 (0.1, 0.5)

* 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)
rs2031920CTCCCTTT
Non-Hispanic White12-1997.5 (96.5, 98.2)2.5 (1.8, 3.5)95.5 (92.7, 97.3)3.9 (1.8, 8.4)0.5 (0.1, 3.6)
20-3998.0 (96.4, 98.9)2.0 (1.1, 3.6)96.0 (92.9, 97.8)4.0 (2.2, 7.1)0.0 (NA)
40-5997.8 (96.6, 98.6)2.2 (1.4, 3.4)95.7 (93.3, 97.3)4.3 (2.7, 6.7)0.0 (NA)
>=6097.4 (96.3, 98.2)2.6 (1.8, 3.7)95.0 (93.0, 96.5)4.7 (3.3, 6.8)0.2 (0.0, 1.1)
Non-Hispanic Black12-1999.3 (98.5, 99.7)0.7 (0.3, 1.5)98.6 (97.0, 99.4)1.4 (0.6, 3.0)0.0 (NA)
20-3999.3 (98.9, 99.5)0.7 (0.5, 1.1)98.6 (97.9, 99.1)1.4 (0.9, 2.1)0.0 (NA)
40-5999.1 (98.2, 99.6)0.9 (0.4, 1.8)98.3 (96.3, 99.2)1.7 (0.8, 3.7)0.0 (NA)
>=6099.2 (97.4, 99.7)0.8 (0.3, 2.6)98.3 (94.8, 99.5)1.7 (0.5, 5.2)0.0 (NA)
Mexican American12-1990.4 (88.4, 92.1)9.6 (7.9, 11.6)82.1 (79.3, 84.6)16.6 (14.3, 19.2)1.3 (0.4, 4.3)
20-3988.4 (87.1, 89.6)11.6 (10.4, 12.9)77.7 (75.1, 80.2)21.4 (18.5, 24.5)0.9 (0.3, 2.7)
40-5990.5 (87.3, 92.9)9.5 (7.1, 12.7)82.2 (76.7, 86.6)16.6 (12.6, 21.7)1.2 (0.4, 3.5)
>=6089.6 (86.0, 92.3)10.4 (7.7, 14.0)79.7 (72.6, 85.3)19.8 (14.1, 27.1)0.5 (0.2, 1.8)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs2031920CTCCCTTT
Non-Hispanic WhiteMale97.4 (96.4, 98.2)2.6 (1.8, 3.6)95.1 (93.0, 96.6)4.6 (3.1, 6.9)0.2 (0.1, 0.8)
Female98.1 (97.4, 98.6)1.9 (1.4, 2.6)96.1 (94.7, 97.2)3.9 (2.8, 5.3)0.0 (NA)
Non-Hispanic BlackMale99.2 (98.6, 99.6)0.8 (0.4, 1.4)98.5 (97.2, 99.2)1.5 (0.8, 2.8)0.0 (NA)
Female99.2 (98.7, 99.6)0.8 (0.4, 1.3)98.5 (97.4, 99.1)1.5 (0.9, 2.6)0.0 (NA)
Mexican AmericanMale88.9 (87.4, 90.3)11.1 (9.7, 12.6)79.4 (76.6, 82.0)19.0 (16.3, 22.0)1.6 (0.8, 3.0)
Female89.8 (88.4, 91.0)10.2 (9.0, 11.6)80.0 (77.1, 82.7)19.5 (16.7, 22.7)0.4 (0.2, 1.1)

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