CYP2C9 Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide change Amino acid change

Genotyping method

rs1057910 Ex7-75A>C Ile359Leu TaqMan


 

By Race/Ethnicity

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1057910 A C AA AC CC
Non-Hispanic White 93.2 (92.4, 94.0) 6.8 (6.0, 7.6) <0.001 87.1 (85.4, 88.5) 12.3 (10.9, 14.0) 0.6 (0.4, 0.9) <0.001 0.28
Non-Hispanic Black 98.9 (98.2, 99.4) 1.1 (0.6, 1.8) 97.9 (96.5, 98.7) 2.0 (1.2, 3.4) 0.0 (0.0, 0.3) 0.08
Mexican American 96.1 (95.1, 96.9) 3.9 (3.1, 4.9) 92.4 (90.4, 93.9) 7.5 (6.0, 9.4) 0.1 (0.0, 0.4) 0.58
Total* 94.2 (93.6, 94.8) 5.8 (5.2, 6.4) 89.0 (87.9, 90.1) 10.4 (9.4, 11.5) 0.6 (0.4, 0.9)

* 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
rs1057910 A C AA AC CC
12-19 94.7 (92.3, 96.4) 5.3 (3.6, 7.7) 0.282 90.1 (86.1, 93.1) 9.1 (6.5, 12.7) 0.7 (0.2, 3.0) 0.326
20-39 94.9 (93.7, 95.9) 5.1 (4.1, 6.3) 90.6 (88.1, 92.6) 8.6 (6.4, 11.4) 0.8 (0.5, 1.4)
40-59 93.7 (92.0, 95.1) 6.3 (4.9, 8.0) 87.7 (84.3, 90.5) 12.0 (9.2, 15.5) 0.3 (0.1, 1.0)
>=60 93.2 (92.1, 94.2) 6.8 (5.8, 7.9) 86.9 (85.0, 88.7) 12.6 (11.0, 14.4) 0.5 (0.1, 1.5)
Total 94.2 (93.6, 94.8) 5.8 (5.2, 6.4) 89.0 (87.9, 90.1) 10.4 (9.4, 11.5) 0.6 (0.4, 0.9)

* 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
rs1057910 A C AA AC CC
Male 94.5 (93.3, 95.5) 5.5 (4.5, 6.7) 0.390 89.5 (87.3, 91.4) 10.0 (8.3, 12.1) 0.5 (0.2, 0.9) 0.404
Female 93.9 (93.1, 94.6) 6.1 (5.4, 6.9) 88.6 (87.0, 90.0) 10.7 (9.3, 12.3) 0.7 (0.4, 1.2)
Total 94.2 (93.6, 94.8) 5.8 (5.2, 6.4) 89.0 (87.9, 90.1) 10.4 (9.4, 11.5) 0.6 (0.4, 0.9)

* 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)
rs1057910 A C AA AC CC
Non-Hispanic White 12-19 93.6 (90.7, 95.7) 6.4 (4.3, 9.3) 87.7 (81.9, 91.7) 12.0 (7.9, 17.7) 0.4 (0.1, 1.6)
20-39 93.8 (92.0, 95.2) 6.2 (4.8, 8.0) 88.5 (84.8, 91.5) 10.5 (7.6, 14.5) 0.9 (0.6, 1.3)
40-59 92.8 (90.5, 94.6) 7.2 (5.4, 9.5) 86.0 (81.5, 89.6) 13.6 (10.0, 18.2) 0.4 (0.1, 1.3)
>=60 92.6 (91.2, 93.7) 7.4 (6.3, 8.8) 85.6 (83.4, 87.6) 13.9 (12.1, 15.8) 0.5 (0.1, 1.9)
Non-Hispanic Black 12-19 98.6 (97.1, 99.4) 1.4 (0.6, 2.9) 97.2 (94.2, 98.7) 2.8 (1.3, 5.8) 0.0 (NA)
20-39 98.8 (97.7, 99.4) 1.2 (0.6, 2.3) 97.6 (95.4, 98.8) 2.4 (1.2, 4.6) 0.0 (NA)
40-59 99.1 (97.8, 99.7) 0.9 (0.3, 2.2) 98.5 (95.9, 99.4) 1.4 (0.5, 4.1) 0.2 (0.0, 1.2)
>=60 99.3 (98.0, 99.8) 0.7 (0.2, 2.0) 98.6 (96.0, 99.5) 1.4 (0.5, 4.0) 0.0 (NA)
Mexican American 12-19 96.4 (93.8, 98.0) 3.6 (2.0, 6.2) 93.3 (88.4, 96.2) 6.2 (3.3, 11.3) 0.5 (0.1, 3.7)
20-39 96.1 (94.9, 97.1) 3.9 (2.9, 5.1) 92.2 (89.8, 94.2) 7.8 (5.8, 10.2) 0.0 (NA)
40-59 95.4 (93.4, 96.8) 4.6 (3.2, 6.6) 90.9 (86.8, 93.8) 9.0 (6.0, 13.3) 0.1 (0.0, 0.9)
>=60 97.2 (95.1, 98.4) 2.8 (1.6, 4.9) 94.4 (90.3, 96.9) 5.6 (3.1, 9.7) 0.0 (NA)

By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1057910 A C AA AC CC
Non-Hispanic White Male 93.8 (92.2, 95.0) 6.2 (5.0, 7.8) 88.0 (85.2, 90.3) 11.6 (9.4, 14.2) 0.4 (0.2, 1.1)
Female 92.7 (91.8, 93.5) 7.3 (6.5, 8.2) 86.2 (84.3, 87.8) 13.0 (11.2, 15.1) 0.8 (0.5, 1.2)
Non-Hispanic Black Male 98.7 (97.7, 99.2) 1.3 (0.8, 2.3) 97.3 (95.4, 98.5) 2.7 (1.5, 4.6) 0.0 (NA)
Female 99.2 (98.6, 99.5) 0.8 (0.5, 1.4) 98.4 (97.3, 99.1) 1.5 (0.9, 2.6) 0.1 (0.0, 0.6)
Mexican American Male 95.7 (94.1, 96.9) 4.3 (3.1, 5.9) 91.7 (88.8, 93.9) 8.1 (6.1, 10.8) 0.2 (0.1, 0.7)
Female 96.5 (95.4, 97.4) 3.5 (2.6, 4.6) 93.1 (90.8, 94.8) 6.9 (5.2, 9.2) 0.0 (NA)

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