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U.S. Genome Variation Estimates

CYP2E1 Allele and Genotype Frequencies

Available polymorphism(s)

  Common Designations  

rs number

Nucleotide change Amino acid change

Genotyping method

rs2031920

-1054C>T -1053C>T   MGB Eclipse

 

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‡
rs2031920 C T   CC CT TT    
Non-Hispanic White 97.8 (97.0, 98.3) 2.2 (1.7, 3.0) <0.001 95.6 (94.2, 96.8) 4.2 (3.1, 5.8) 0.1 (0.0, 0.4) <0.001 0.16
Non-Hispanic Black 99.2 (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 American 89.3 (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*

Variant Age (years) Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs2031920 C T   CC CT TT  
12-19 96.7 (95.4, 97.6) 3.3 (2.4, 4.6) 0.718 93.9 (91.0, 95.9) 5.7 (3.5, 9.2) 0.5 (0.1, 2.1) 0.246
20-39 96.6 (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)
40-59 97.1 (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)
>=60 97.0 (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)
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 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
rs2031920 C T   CC CT TT  
Male 96.6 (95.6, 97.3) 3.4 (2.7, 4.4) 0.252 93.5 (91.6, 95.0) 6.1 (4.6, 8.0) 0.4 (0.2, 0.9) 0.206
Female 97.1 (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)
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 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)
rs2031920 C T CC CT TT
Non-Hispanic White 12-19 97.5 (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)
20-39 98.0 (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)
40-59 97.8 (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)
>=60 97.4 (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 Black 12-19 99.3 (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)
20-39 99.3 (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)
40-59 99.1 (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)
>=60 99.2 (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 American 12-19 90.4 (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)
20-39 88.4 (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)
40-59 90.5 (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)
>=60 89.6 (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

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs2031920 C T CC CT TT
Non-Hispanic White Male 97.4 (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)
Female 98.1 (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 Black Male 99.2 (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)
Female 99.2 (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 American Male 88.9 (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)
Female 89.8 (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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