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 |
| 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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