CYP1A2 Allele and Genotype Frequencies



 

Available polymorphism(s)

Common Designations

rs number

Nucleotide change Amino acid change

Genotyping method

rs11854147

5341bp 3′ of STP C>T

TaqMan

rs2069514

-3859G>A

TaqMan

rs4886406

9773bp 3′ of STP T>G

TaqMan

 


By Race/Ethnicity

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs11854147 C T CC CT TT
Non-Hispanic White 68.6 (66.9, 70.4) 31.4 (29.6, 33.1) <0.001 49.1 (46.9, 51.4) 39.0 (37.2, 40.8) 11.9 (10.3, 13.6) <0.001 <0.01
Non-Hispanic Black 27.9 (26.1, 29.7) 72.1 (70.3, 73.9) 8.6 (7.1, 10.4) 38.6 (36.8, 40.5) 52.8 (50.5, 55.1) 0.11
Mexican American 38.7 (35.1, 42.3) 61.3 (57.7, 64.9) 16.5 (13.3, 20.2) 44.4 (41.0, 47.8) 39.1 (34.8, 43.7) 0.11
Total* 59.6 (57.2, 61.9) 40.4 (38.1, 42.8) 39.5 (36.8, 42.2) 40.1 (38.6, 41.7) 20.4 (18.2, 22.7)
rs2069514 A G AA AG GG
Non-Hispanic White 1.6 (1.0, 2.5) 98.4 (97.5, 99.0) <0.001 0.1 (0.0, 0.8) 2.9 (1.8, 4.7) 96.9 (95.2, 98.1) <0.001 0.09
Non-Hispanic Black 26.3 (24.9, 27.7) 73.7 (72.3, 75.1) 6.3 (5.3, 7.5) 39.9 (36.8, 43.1) 53.8 (51.0, 56.5) 0.29
Mexican American 33.7 (30.2, 37.4) 66.3 (62.6, 69.8) 12.2 (9.3, 15.9) 42.9 (39.3, 46.6) 44.9 (40.3, 49.6) 0.29
Total* 8.4 (7.0, 10.0) 91.6 (90.0, 93.0) 2.2 (1.7, 2.9) 12.4 (10.2, 15.0) 85.4 (82.6, 87.9)
rs4886406 G T GG GT TT
Non-Hispanic White 27.8 (26.5, 29.2) 72.2 (70.8, 73.5) <0.001 8.4 (7.1, 9.8) 38.9 (37.1, 40.8) 52.7 (50.9, 54.6) 0.001 0.13
Non-Hispanic Black 38.3 (36.0, 40.8) 61.7 (59.2, 64.0) 13.9 (12.1, 16.0) 48.8 (45.9, 51.8) 37.2 (33.8, 40.8) 0.18
Mexican American 26.5 (24.7, 28.5) 73.5 (71.5, 75.3) 7.2 (5.8, 9.0) 38.6 (36.2, 41.1) 54.1 (51.4, 56.9) 0.87
Total* 29.4 (28.1, 30.7) 70.6 (69.3, 71.9) 9.0 (7.9, 10.2) 40.9 (38.9, 42.9) 50.1 (48.1, 52.2)

* 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
rs11854147 C T CC CT TT
12-19 57.9 (51.7, 63.9) 42.1 (36.1, 48.3) 0.199 37.8 (30.9, 45.3) 40.2 (35.8, 44.7) 22.0 (16.8, 28.3) 0.252
20-39 58.1 (54.8, 61.4) 41.9 (38.6, 45.2) 37.0 (33.3, 40.8) 42.3 (40.2, 44.4) 20.7 (17.8, 24.1)
40-59 60.6 (57.4, 63.7) 39.4 (36.3, 42.6) 41.5 (37.5, 45.5) 38.3 (35.1, 41.5) 20.3 (17.5, 23.4)
>=60 62.1 (59.6, 64.5) 37.9 (35.5, 40.4) 42.9 (39.8, 46.0) 38.5 (35.5, 41.6) 18.6 (16.1, 21.4)
Total 59.6 (57.2, 61.9) 40.4 (38.1, 42.8) 39.5 (36.8, 42.2) 40.1 (38.6, 41.7) 20.4 (18.2, 22.7)
rs2069514 A G AA AG GG
12-19 10.5 (7.9, 13.9) 89.5 (86.1, 92.1) 0.003 3.1 (2.2, 4.4) 14.9 (10.8, 20.2) 82.0 (76.2, 86.6) 0.062
20-39 9.7 (7.4, 12.6) 90.3 (87.4, 92.6) 2.4 (1.5, 3.8) 14.6 (10.7, 19.5) 83.1 (77.9, 87.2)
40-59 7.4 (6.1, 8.9) 92.6 (91.1, 93.9) 2.2 (1.5, 3.2) 10.4 (8.7, 12.5) 87.4 (85.0, 89.4)
>=60 5.8 (4.5, 7.6) 94.2 (92.4, 95.5) 1.3 (0.6, 2.9) 9.0 (7.5, 10.7) 89.7 (87.2, 91.7)
Total 8.4 (7.0, 10.0) 91.6 (90.0, 93.0) 2.2 (1.7, 2.9) 12.4 (10.2, 15.0) 85.4 (82.6, 87.9)
rs4886406 G T GG GT TT
12-19 28.7 (25.2, 32.5) 71.3 (67.5, 74.8) 0.822 8.8 (5.4, 14.1) 39.8 (34.5, 45.4) 51.4 (46.6, 56.1) 0.966
20-39 30.0 (27.9, 32.2) 70.0 (67.8, 72.1) 9.1 (7.4, 11.2) 41.8 (39.3, 44.4) 49.1 (46.0, 52.1)
40-59 29.2 (26.9, 31.7) 70.8 (68.3, 73.1) 9.1 (6.8, 12.1) 40.2 (36.1, 44.4) 50.7 (47.1, 54.2)
>=60 28.9 (26.8, 31.1) 71.1 (68.9, 73.2) 8.5 (7.3, 9.9) 40.8 (37.2, 44.5) 50.7 (46.9, 54.5)
Total 29.4 (28.1, 30.7) 70.6 (69.3, 71.9) 9.0 (7.9, 10.2) 40.9 (38.9, 42.9) 50.1 (48.1, 52.2)

* 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
rs11854147 C T CC CT TT
Male 59.5 (56.5, 62.5) 40.5 (37.5, 43.5) 0.975 39.4 (36.1, 42.8) 40.3 (37.3, 43.3) 20.3 (17.2, 23.8) 0.995
Female 59.6 (56.9, 62.2) 40.4 (37.8, 43.1) 39.6 (35.8, 43.4) 40.0 (37.1, 43.1) 20.4 (18.5, 22.4)
Total 59.6 (57.2, 61.9) 40.4 (38.1, 42.8) 39.5 (36.8, 42.2) 40.1 (38.6, 41.7) 20.4 (18.2, 22.7)
rs2069514 A G AA AG GG
Male 8.9 (7.0, 11.3) 91.1 (88.7, 93.0) 0.166 2.4 (1.7, 3.5) 13.0 (10.1, 16.6) 84.6 (80.5, 88.0) 0.391
Female 7.9 (6.8, 9.1) 92.1 (90.9, 93.2) 2.0 (1.6, 2.6) 11.8 (10.0, 14.0) 86.2 (83.9, 88.1)
Total 8.4 (7.0, 10.0) 91.6 (90.0, 93.0) 2.2 (1.7, 2.9) 12.4 (10.2, 15.0) 85.4 (82.6, 87.9)
rs4886406 G T GG GT TT
Male 29.2 (27.0, 31.6) 70.8 (68.4, 73.0) 0.819 8.7 (7.0, 10.7) 41.2 (38.1, 44.3) 50.2 (46.7, 53.6) 0.845
Female 29.6 (28.0, 31.2) 70.4 (68.8, 72.0) 9.2 (8.1, 10.5) 40.7 (37.0, 44.5) 50.1 (46.8, 53.4)
Total 29.4 (28.1, 30.7) 70.6 (69.3, 71.9) 9.0 (7.9, 10.2) 40.9 (38.9, 42.9) 50.1 (48.1, 52.2)

* 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)
rs11854147 C T CC CT TT
Non-Hispanic White 12-19 70.6 (65.2, 75.4) 29.4 (24.6, 34.8) 52.2 (44.3, 59.9) 36.8 (29.8, 44.4) 11.0 (7.5, 15.9)
20-39 68.3 (65.3, 71.2) 31.7 (28.8, 34.7) 48.2 (44.5, 51.9) 40.3 (37.3, 43.4) 11.5 (8.9, 14.7)
40-59 68.5 (65.6, 71.3) 31.5 (28.7, 34.4) 49.2 (45.8, 52.7) 38.6 (35.4, 41.9) 12.2 (9.4, 15.6)
>=60 68.2 (66.5, 69.9) 31.8 (30.1, 33.5) 49.0 (46.2, 51.8) 38.5 (34.8, 42.2) 12.6 (10.6, 14.9)
Non-Hispanic Black 12-19 24.8 (20.3, 29.9) 75.2 (70.1, 79.7) 6.3 (4.4, 9.0) 36.9 (30.2, 44.3) 56.7 (48.4, 64.6)
20-39 29.5 (27.1, 32.0) 70.5 (68.0, 72.9) 9.9 (7.5, 13.1) 39.2 (35.7, 42.7) 50.9 (47.7, 54.1)
40-59 25.9 (23.3, 28.7) 74.1 (71.3, 76.7) 7.8 (5.3, 11.4) 36.3 (32.1, 40.7) 55.9 (52.1, 59.7)
>=60 30.6 (24.8, 37.2) 69.4 (62.8, 75.2) 8.8 (6.1, 12.5) 43.6 (34.2, 53.5) 47.5 (37.1, 58.2)
Mexican American 12-19 37.2 (32.9, 41.6) 62.8 (58.4, 67.1) 15.1 (9.9, 22.3) 44.2 (37.5, 51.1) 40.7 (35.9, 45.7)
20-39 37.3 (34.1, 40.7) 62.7 (59.3, 65.9) 14.9 (12.6, 17.6) 44.9 (40.8, 49.0) 40.2 (35.5, 45.1)
40-59 43.2 (35.9, 50.8) 56.8 (49.2, 64.1) 22.1 (15.3, 30.9) 42.2 (36.3, 48.4) 35.6 (27.7, 44.4)
>=60 38.3 (34.2, 42.6) 61.7 (57.4, 65.8) 14.6 (11.6, 18.1) 47.6 (41.6, 53.6) 37.9 (31.6, 44.6)
rs2069514 A G AA AG GG
Non-Hispanic White 12-19 2.0 (0.8, 5.2) 98.0 (94.8, 99.2) 0.2 (0.0, 1.9) 3.5 (1.2, 9.9) 96.2 (90.0, 98.6)
20-39 1.7 (0.7, 4.1) 98.3 (95.9, 99.3) 0.0 (NA) 3.3 (1.3, 8.2) 96.7 (91.8, 98.7)
40-59 1.2 (0.7, 2.2) 98.8 (97.8, 99.3) 0.4 (0.0, 2.9) 1.7 (0.9, 3.2) 97.9 (96.7, 98.7)
>=60 1.8 (1.3, 2.4) 98.2 (97.6, 98.7) 0.0 (NA) 3.5 (2.7, 4.7) 96.5 (95.3, 97.3)
Non-Hispanic Black 12-19 30.5 (27.2, 34.1) 69.5 (65.9, 72.8) 8.8 (6.0, 12.6) 43.6 (37.7, 49.7) 47.7 (42.1, 53.3)
20-39 24.9 (22.7, 27.3) 75.1 (72.7, 77.3) 5.2 (3.5, 7.7) 39.4 (34.2, 44.8) 55.4 (50.9, 59.9)
40-59 27.2 (24.3, 30.4) 72.8 (69.6, 75.7) 7.5 (5.5, 10.2) 39.4 (34.3, 44.8) 53.1 (47.9, 58.2)
>=60 23.2 (20.1, 26.7) 76.8 (73.3, 79.9) 4.3 (2.2, 8.2) 37.9 (31.3, 44.9) 57.8 (51.6, 63.8)
Mexican American 12-19 34.5 (27.5, 42.3) 65.5 (57.7, 72.5) 14.4 (9.0, 22.1) 40.3 (31.9, 49.3) 45.3 (35.3, 55.7)
20-39 34.3 (31.9, 36.7) 65.7 (63.3, 68.1) 11.8 (9.4, 14.8) 44.8 (41.7, 48.1) 43.3 (40.4, 46.3)
40-59 32.5 (27.6, 37.9) 67.5 (62.1, 72.4) 10.5 (6.6, 16.4) 43.9 (39.2, 48.8) 45.5 (39.2, 52.0)
>=60 31.1 (25.6, 37.3) 68.9 (62.7, 74.4) 13.7 (9.6, 19.1) 34.9 (28.5, 41.9) 51.4 (43.2, 59.6)
rs4886406 G T GG GT TT
Non-Hispanic White 12-19 26.6 (22.2, 31.4) 73.4 (68.6, 77.8) 7.9 (4.9, 12.5) 37.3 (30.4, 44.7) 54.8 (47.4, 62.0)
20-39 28.5 (26.1, 31.1) 71.5 (68.9, 73.9) 8.8 (6.6, 11.6) 39.4 (36.5, 42.3) 51.8 (48.5, 55.1)
40-59 27.9 (25.3, 30.7) 72.1 (69.3, 74.7) 8.4 (5.6, 12.5) 39.0 (34.5, 43.7) 52.6 (48.8, 56.3)
>=60 27.3 (25.3, 29.3) 72.7 (70.7, 74.7) 7.8 (6.5, 9.4) 38.9 (35.3, 42.6) 53.3 (49.7, 56.8)
Non-Hispanic Black 12-19 34.5 (31.1, 38.1) 65.5 (61.9, 68.9) 9.0 (7.0, 11.3) 51.1 (44.0, 58.1) 40.0 (33.5, 46.9)
20-39 37.2 (34.4, 40.0) 62.8 (60.0, 65.6) 13.6 (11.2, 16.4) 47.1 (43.5, 50.8) 39.3 (35.4, 43.4)
40-59 41.6 (37.2, 46.1) 58.4 (53.9, 62.8) 17.1 (12.9, 22.3) 48.9 (43.3, 54.6) 34.0 (28.5, 40.0)
>=60 41.4 (36.2, 46.8) 58.6 (53.2, 63.8) 15.8 (10.3, 23.5) 51.1 (42.9, 59.3) 33.1 (26.5, 40.3)
Mexican American 12-19 26.0 (22.9, 29.5) 74.0 (70.5, 77.1) 7.8 (5.7, 10.6) 36.5 (30.9, 42.5) 55.7 (49.9, 61.4)
20-39 27.5 (24.9, 30.2) 72.5 (69.8, 75.1) 8.0 (5.7, 11.1) 39.0 (36.3, 41.7) 53.0 (49.7, 56.3)
40-59 24.5 (21.2, 28.1) 75.5 (71.9, 78.8) 5.0 (3.3, 7.6) 38.9 (32.6, 45.6) 56.0 (49.6, 62.3)
>=60 27.6 (24.4, 31.0) 72.4 (69.0, 75.6) 6.9 (4.4, 10.7) 41.2 (37.0, 45.6) 51.8 (47.2, 56.4)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs11854147 C T CC CT TT
Non-Hispanic White Male 68.5 (65.2, 71.6) 31.5 (28.4, 34.8) 48.7 (44.6, 52.9) 39.6 (36.1, 43.1) 11.7 (9.0, 15.1)
Female 68.8 (66.9, 70.6) 31.2 (29.4, 33.1) 49.5 (46.4, 52.6) 38.4 (35.1, 41.9) 12.0 (10.4, 13.9)
Non-Hispanic Black Male 27.7 (25.2, 30.3) 72.3 (69.7, 74.8) 9.2 (7.6, 11.1) 36.9 (33.4, 40.5) 53.9 (49.8, 57.9)
Female 28.1 (25.3, 31.1) 71.9 (68.9, 74.7) 8.0 (5.8, 11.0) 40.1 (37.8, 42.4) 51.9 (48.2, 55.5)
Mexican American Male 39.4 (35.6, 43.2) 60.6 (56.8, 64.4) 17.4 (14.1, 21.3) 43.9 (39.4, 48.5) 38.7 (33.7, 43.9)
Female 37.9 (33.7, 42.4) 62.1 (57.6, 66.3) 15.4 (11.7, 20.1) 44.9 (41.6, 48.3) 39.6 (34.6, 44.9)
rs2069514 A G AA AG GG
Non-Hispanic White Male 2.1 (1.1, 4.0) 97.9 (96.0, 98.9) 0.2 (0.0, 1.8) 3.7 (1.9, 7.1) 96.1 (92.6, 97.9)
Female 1.1 (0.7, 1.9) 98.9 (98.1, 99.3) 0.1 (0.0, 0.4) 2.2 (1.3, 3.7) 97.8 (96.3, 98.7)
Non-Hispanic Black Male 26.3 (24.7, 28.0) 73.7 (72.0, 75.3) 6.4 (4.8, 8.4) 39.8 (36.1, 43.7) 53.8 (50.7, 56.8)
Female 26.2 (24.3, 28.2) 73.8 (71.8, 75.7) 6.2 (4.9, 8.0) 40.0 (35.5, 44.7) 53.7 (49.8, 57.7)
Mexican American Male 32.7 (28.6, 37.1) 67.3 (62.9, 71.4) 11.5 (8.4, 15.5) 42.4 (38.2, 46.6) 46.1 (40.5, 51.9)
Female 34.7 (31.0, 38.6) 65.3 (61.4, 69.0) 13.0 (9.6, 17.3) 43.5 (38.5, 48.6) 43.6 (38.4, 48.8)
rs4886406 G T GG GT TT
Non-Hispanic White Male 27.5 (24.7, 30.5) 72.5 (69.5, 75.3) 7.7 (5.8, 10.3) 39.6 (36.5, 42.8) 52.7 (48.6, 56.7)
Female 28.1 (26.5, 29.7) 71.9 (70.3, 73.5) 9.0 (7.8, 10.2) 38.3 (34.4, 42.3) 52.8 (49.4, 56.1)
Non-Hispanic Black Male 38.8 (35.6, 42.1) 61.2 (57.9, 64.4) 14.1 (12.0, 16.6) 49.4 (44.5, 54.3) 36.5 (31.5, 41.9)
Female 38.0 (35.0, 41.0) 62.0 (59.0, 65.0) 13.8 (11.5, 16.4) 48.4 (44.7, 52.1) 37.8 (33.6, 42.3)
Mexican American Male 26.7 (23.5, 30.2) 73.3 (69.8, 76.5) 6.6 (4.8, 9.0) 40.2 (36.4, 44.2) 53.2 (48.0, 58.3)
Female 26.4 (24.4, 28.5) 73.6 (71.5, 75.6) 7.9 (6.2, 10.0) 37.0 (34.4, 39.6) 55.1 (52.2, 58.0)

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