CYP2C19 Allele and Genotype Frequencies



 

Available polymorphism(s)

Common Designations

rs number

Nucleotide change Amino acid change

Genotyping method

rs4986893 Ex4-7G>A Trp212Stp MGB Eclipse
rs4986894 -97T>C

TaqMan

 


By Race/Ethnicity

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs4986893 A G AA AG GG
Non-Hispanic White 0.1 (0.1, 0.2) 99.9 (99.8, 99.9) 0.744 0.0 (NA) 0.2 (0.1, 0.5) 99.8 (99.5, 99.9) 0.830 0.94
Non-Hispanic Black 0.2 (0.1, 0.4) 99.8 (99.6, 99.9) 0.0 (NA) 0.3 (0.1, 0.8) 99.7 (99.2, 99.9) 0.95
Mexican American 0.1 (0.0, 0.3) 99.9 (99.7, 100.0) 0.0 (NA) 0.2 (0.1, 0.5) 99.8 (99.5, 99.9) 0.96
Total* 0.2 (0.1, 0.5) 99.8 (99.5, 99.9) 0.0 (0.0, 0.1) 0.4 (0.2, 0.9) 99.6 (99.1, 99.8)
rs4986894 C T CC CT TT
Non-Hispanic White 13.7 (12.5, 14.9) 86.3 (85.1, 87.5) <0.001 1.9 (1.4, 2.6) 23.6 (21.7, 25.7) 74.5 (72.3, 76.6) <0.001 0.75
Non-Hispanic Black 18.3 (17.0, 19.7) 81.7 (80.3, 83.0) 3.8 (2.8, 5.0) 29.1 (26.5, 32.0) 67.1 (64.6, 69.5) 0.30
Mexican American 11.0 (9.2, 13.1) 89.0 (86.9, 90.8) 1.3 (0.7, 2.3) 19.5 (16.6, 22.7) 79.2 (75.6, 82.4) 0.55
Total* 14.8 (13.8, 15.7) 85.2 (84.3, 86.2) 2.3 (1.9, 2.8) 25.0 (23.4, 26.6) 72.7 (71.0, 74.4)

* 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
rs4986893 A G AA AG GG
12-19 0.0 (NA) 100.0 (NA) 0.780 0.0 (NA) 0.0 (NA) 100.0 (NA) 0.062
20-39 0.3 (0.1, 1.0) 99.7 (99.0, 99.9) 0.0 (NA) 0.7 (0.2, 2.1) 99.3 (97.9, 99.8)
40-59 0.2 (0.1, 0.6) 99.8 (99.4, 99.9) 0.0 (NA) 0.4 (0.1, 1.3) 99.6 (98.7, 99.9)
>=60 0.2 (0.1, 0.6) 99.8 (99.4, 99.9) 0.1 (0.0, 0.6) 0.3 (0.1, 1.0) 99.6 (99.0, 99.9)
Total 0.2 (0.1, 0.5) 99.8 (99.5, 99.9) 0.0 (0.0, 0.1) 0.4 (0.2, 0.9) 99.6 (99.1, 99.8)
rs4986894 C T CC CT TT
12-19 14.3 (12.1, 16.9) 85.7 (83.1, 87.9) 0.698 2.0 (1.1, 3.7) 24.6 (21.3, 28.3) 73.4 (69.2, 77.2) 0.097
20-39 15.0 (13.3, 16.7) 85.0 (83.3, 86.7) 2.0 (1.4, 2.6) 26.0 (23.3, 28.9) 72.0 (68.9, 75.0)
40-59 14.1 (11.8, 16.9) 85.9 (83.1, 88.2) 2.6 (1.3, 4.8) 23.2 (20.0, 26.6) 74.3 (70.1, 78.0)
>=60 15.6 (13.8, 17.6) 84.4 (82.4, 86.2) 2.7 (1.7, 4.4) 25.8 (22.7, 29.2) 71.5 (68.0, 74.7)
Total 14.8 (13.8, 15.7) 85.2 (84.3, 86.2) 2.3 (1.9, 2.8) 25.0 (23.4, 26.6) 72.7 (71.0, 74.4)

* 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
rs4986893 A G AA AG GG
Male 0.2 (0.1, 0.5) 99.8 (99.5, 99.9) 0.403 0.0 (0.0, 0.2) 0.3 (0.1, 0.9) 99.7 (99.1, 99.9) 0.289
Female 0.3 (0.1, 0.6) 99.7 (99.4, 99.9) 0.0 (NA) 0.5 (0.3, 1.1) 99.5 (98.9, 99.7)
Total 0.2 (0.1, 0.5) 99.8 (99.5, 99.9) 0.0 (0.0, 0.1) 0.4 (0.2, 0.9) 99.6 (99.1, 99.8)
rs4986894 C T CC CT TT
Male 13.6 (11.9, 15.5) 86.4 (84.5, 88.1) 0.087 1.8 (1.2, 2.6) 23.7 (20.6, 27.1) 74.6 (71.1, 77.8) 0.155
Female 15.9 (14.4, 17.5) 84.1 (82.5, 85.6) 2.8 (2.0, 3.8) 26.2 (23.9, 28.6) 71.0 (68.3, 73.6)
Total 14.8 (13.8, 15.7) 85.2 (84.3, 86.2) 2.3 (1.9, 2.8) 25.0 (23.4, 26.6) 72.7 (71.0, 74.4)

* 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)
rs4986893 A G AA AG GG
Non-Hispanic White 12-19 0.0 (NA) 100.0 (NA) 0.0 (NA) 0.0 (NA) 100.0 (NA)
20-39 0.1 (0.0, 0.3) 99.9 (99.7, 100.0) 0.0 (NA) 0.1 (0.0, 0.6) 99.9 (99.4, 100.0)
40-59 0.2 (0.0, 0.8) 99.8 (99.2, 100.0) 0.0 (NA) 0.4 (0.1, 1.7) 99.6 (98.3, 99.9)
>=60 0.2 (0.0, 0.6) 99.8 (99.4, 100.0) 0.0 (NA) 0.3 (0.1, 1.2) 99.7 (98.8, 99.9)
Non-Hispanic Black 12-19 0.0 (NA) 100.0 (NA) 0.0 (NA) 0.0 (NA) 100.0 (NA)
20-39 0.2 (0.0, 0.6) 99.8 (99.4, 100.0) 0.0 (NA) 0.3 (0.1, 1.2) 99.7 (98.8, 99.9)
40-59 0.2 (0.1, 1.1) 99.8 (98.9, 99.9) 0.0 (NA) 0.5 (0.1, 2.1) 99.5 (97.9, 99.9)
>=60 0.1 (0.0, 1.3) 99.9 (98.7, 100.0) 0.0 (NA) 0.3 (0.0, 2.5) 99.7 (97.5, 100.0)
Mexican American 12-19 0.0 (NA) 100.0 (NA) 0.0 (NA) 0.0 (NA) 100.0 (NA)
20-39 0.1 (0.0, 0.5) 99.9 (99.5, 100.0) 0.0 (NA) 0.3 (0.1, 1.1) 99.7 (98.9, 99.9)
40-59 0.1 (0.0, 0.5) 99.9 (99.5, 100.0) 0.0 (NA) 0.1 (0.0, 1.1) 99.9 (98.9, 100.0)
>=60 0.2 (0.0, 1.5) 99.8 (98.5, 100.0) 0.0 (NA) 0.5 (0.1, 3.1) 99.5 (96.9, 99.9)
rs4986894 C T CC CT TT
Non-Hispanic White 12-19 12.0 (8.8, 16.3) 88.0 (83.7, 91.2) 1.1 (0.3, 3.5) 21.8 (16.5, 28.3) 77.1 (69.8, 83.0)
20-39 14.1 (11.9, 16.6) 85.9 (83.4, 88.1) 1.6 (1.0, 2.6) 24.9 (21.5, 28.7) 73.5 (69.2, 77.3)
40-59 13.3 (10.9, 16.1) 86.7 (83.9, 89.1) 2.4 (1.1, 4.9) 21.8 (18.9, 24.9) 75.9 (71.8, 79.5)
>=60 14.5 (12.6, 16.7) 85.5 (83.3, 87.4) 2.1 (1.2, 3.4) 24.9 (21.4, 28.7) 73.1 (69.2, 76.6)
Non-Hispanic Black 12-19 19.2 (16.9, 21.9) 80.8 (78.1, 83.1) 4.6 (2.6, 7.9) 29.4 (24.5, 34.7) 66.1 (61.5, 70.3)
20-39 18.3 (16.2, 20.6) 81.7 (79.4, 83.8) 4.0 (2.6, 6.2) 28.5 (25.4, 31.8) 67.5 (63.9, 70.9)
40-59 16.6 (13.8, 19.9) 83.4 (80.1, 86.2) 2.8 (1.6, 4.8) 27.7 (23.3, 32.5) 69.5 (64.1, 74.5)
>=60 20.5 (17.7, 23.6) 79.5 (76.4, 82.3) 3.7 (2.2, 6.0) 33.6 (28.0, 39.7) 62.7 (57.0, 68.2)
Mexican American 12-19 9.4 (7.3, 12.0) 90.6 (88.0, 92.7) 0.9 (0.2, 4.2) 17.0 (14.1, 20.3) 82.1 (78.2, 85.5)
20-39 11.7 (9.1, 14.8) 88.3 (85.2, 90.9) 1.6 (0.9, 3.0) 20.1 (16.3, 24.7) 78.3 (73.0, 82.7)
40-59 10.5 (8.3, 13.2) 89.5 (86.8, 91.7) 1.2 (0.4, 3.6) 18.5 (14.1, 23.9) 80.3 (75.2, 84.5)
>=60 12.5 (10.2, 15.2) 87.5 (84.8, 89.8) 0.6 (0.1, 2.9) 23.8 (20.0, 28.1) 75.6 (70.9, 79.7)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs4986893 A G AA AG GG
Non-Hispanic White Male 0.1 (0.0, 0.5) 99.9 (99.5, 100.0) 0.0 (NA) 0.2 (0.0, 1.0) 99.8 (99.0, 100.0)
Female 0.1 (0.1, 0.3) 99.9 (99.7, 99.9) 0.0 (NA) 0.2 (0.1, 0.5) 99.8 (99.5, 99.9)
Non-Hispanic Black Male 0.1 (0.0, 0.5) 99.9 (99.5, 100.0) 0.0 (NA) 0.2 (0.0, 1.0) 99.8 (99.0, 100.0)
Female 0.2 (0.1, 0.6) 99.8 (99.4, 99.9) 0.0 (NA) 0.4 (0.1, 1.2) 99.6 (98.8, 99.9)
Mexican American Male 0.1 (0.0, 0.2) 99.9 (99.8, 100.0) 0.0 (NA) 0.2 (0.1, 0.4) 99.8 (99.6, 99.9)
Female 0.1 (0.0, 0.6) 99.9 (99.4, 100.0) 0.0 (NA) 0.2 (0.1, 1.1) 99.8 (98.9, 99.9)
rs4986894 C T CC CT TT
Non-Hispanic White Male 12.5 (10.6, 14.6) 87.5 (85.4, 89.4) 1.3 (0.6, 2.4) 22.4 (19.0, 26.3) 76.3 (72.3, 79.9)
Female 14.8 (13.1, 16.8) 85.2 (83.2, 86.9) 2.5 (1.7, 3.6) 24.8 (22.0, 27.8) 72.8 (69.5, 75.8)
Non-Hispanic Black Male 17.2 (15.0, 19.6) 82.8 (80.4, 85.0) 3.2 (2.3, 4.6) 27.9 (23.8, 32.3) 68.9 (64.5, 73.0)
Female 19.3 (17.5, 21.3) 80.7 (78.7, 82.5) 4.2 (3.0, 5.9) 30.2 (26.6, 34.1) 65.6 (61.9, 69.0)
Mexican American Male 10.0 (8.0, 12.5) 90.0 (87.5, 92.0) 1.0 (0.4, 2.4) 18.1 (14.8, 21.8) 81.0 (76.7, 84.6)
Female 12.1 (9.9, 14.7) 87.9 (85.3, 90.1) 1.6 (0.9, 3.0) 20.9 (17.0, 25.5) 77.4 (72.7, 81.5)

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Page last reviewed: March 16, 2009 (archived document)