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U.S. Genome Variation Estimates

CYP1A1 Allele and Genotype Frequencies

Available polymorphism(s)


  Common Designations  
rs number Nucleotide change Amino acid Genotyping method
rs2472299 -17961C>T

 

TaqMan
rs2606345 IVS1+606G>T

 

TaqMan


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‡
rs2472299 C T   CC CT TT    
Non-Hispanic White 71.8 (70.3, 73.3) 28.2 (26.7, 29.7) <0.001 52.8 (50.6, 55.0) 37.9 (35.8, 40.0) 9.3 (7.9, 10.8) <0.001 0.01
Non-Hispanic Black 61.5 (59.3, 63.7) 38.5 (36.3, 40.7) 37.7 (34.7, 40.7) 47.8 (45.3, 50.2) 14.6 (12.8, 16.6) 0.61
Mexican American 73.3 (71.1, 75.4) 26.7 (24.6, 28.9) 53.9 (50.3, 57.4) 38.8 (35.7, 42.0) 7.3 (6.0, 8.8) 0.65
Total* 70.2 (68.7, 71.6) 29.8 (28.4, 31.3)   50.2 (47.8, 52.5) 40.0 (37.7, 42.3) 9.9 (8.8, 11.0)    
rs2606345 G T   GG GT TT    
Non-Hispanic White 33.8 (31.8, 35.8) 66.2 (64.2, 68.2) <0.001 11.2 (9.2, 13.6) 45.1 (41.8, 48.5) 43.7 (40.7, 46.7) <0.001 0.71
Non-Hispanic Black 84.1 (81.3, 86.5) 15.9 (13.5, 18.7) 70.8 (65.8, 75.3) 26.6 (22.4, 31.3) 2.6 (2.1, 3.4) 0.21
Mexican American 61.7 (59.1, 64.2) 38.3 (35.8, 40.9) 38.4 (34.4, 42.6) 46.5 (42.5, 50.6) 15.1 (13.1, 17.2) 0.72
Total* 44.0 (41.7, 46.3) 56.0 (53.7, 58.3)   22.6 (20.5, 24.8) 42.8 (40.1, 45.5) 34.6 (31.6, 37.8)    

* 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
rs2472299 C T   CC CT TT  
12-19 70.7 (67.0, 74.1) 29.3 (25.9, 33.0) 0.945 50.0 (43.9, 56.0) 41.5 (35.7, 47.5) 8.6 (6.6, 11.2) 0.795
20-39 69.8 (67.3, 72.1) 30.2 (27.9, 32.7) 49.4 (46.0, 52.7) 40.8 (37.8, 43.9) 9.8 (7.8, 12.3)
40-59 70.3 (68.0, 72.5) 29.7 (27.5, 32.0) 51.0 (47.6, 54.4) 38.6 (34.9, 42.5) 10.4 (8.2, 13.1)
>=60 70.3 (68.3, 72.3) 29.7 (27.7, 31.7) 50.7 (47.2, 54.3) 39.2 (35.5, 42.9) 10.1 (8.6, 11.8)
Total 70.2 (68.7, 71.6) 29.8 (28.4, 31.3)   50.2 (47.8, 52.5) 40.0 (37.7, 42.3) 9.9 (8.8, 11.0)  
rs2606345 G T   GG GT TT  
12-19 48.5 (44.7, 52.4) 51.5 (47.6, 55.3) 0.001 27.8 (22.9, 33.2) 41.5 (34.9, 48.4) 30.7 (25.9, 36.1) <0.001
20-39 45.5 (42.0, 49.0) 54.5 (51.0, 58.0) 23.4 (20.3, 26.9) 44.0 (40.1, 48.0) 32.5 (28.1, 37.4)
40-59 42.2 (39.5, 45.1) 57.8 (54.9, 60.5) 22.3 (19.5, 25.4) 39.9 (36.5, 43.3) 37.8 (34.3, 41.5)
>=60 40.3 (37.8, 42.8) 59.7 (57.2, 62.2) 17.6 (14.8, 20.8) 45.4 (41.8, 49.0) 37.0 (33.9, 40.3)
Total 44.0 (41.7, 46.3) 56.0 (53.7, 58.3)   22.6 (20.5, 24.8) 42.8 (40.1, 45.5) 34.6 (31.6, 37.8)  

* 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
rs2472299 C T   CC CT TT  
Male 70.3 (68.0, 72.6) 29.7 (27.4, 32.0) 0.838 50.7 (47.3, 54.1) 39.2 (36.1, 42.4) 10.1 (8.3, 12.3) 0.869
Female 70.0 (68.1, 71.8) 30.0 (28.2, 31.9) 49.7 (45.8, 53.5) 40.7 (36.3, 45.2) 9.6 (8.4, 11.1)
Total 70.2 (68.7, 71.6) 29.8 (28.4, 31.3)   50.2 (47.8, 52.5) 40.0 (37.7, 42.3) 9.9 (8.8, 11.0)  
rs2606345 G T   GG GT TT  
Male 44.8 (42.0, 47.7) 55.2 (52.3, 58.0) 0.220 22.7 (20.1, 25.4) 44.3 (41.1, 47.5) 33.0 (29.4, 36.9) 0.171
Female 43.2 (40.7, 45.7) 56.8 (54.3, 59.3) 22.5 (20.0, 25.2) 41.4 (38.1, 44.7) 36.1 (32.8, 39.6)
Total 44.0 (41.7, 46.3) 56.0 (53.7, 58.3)   22.6 (20.5, 24.8) 42.8 (40.1, 45.5) 34.6 (31.6, 37.8)  

* 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)
rs2472299 C T CC CT TT
Non-Hispanic White 12-19 72.7 (67.2, 77.6) 27.3 (22.4, 32.8) 54.1 (45.5, 62.5) 37.2 (29.9, 45.2) 8.7 (6.1, 12.3)
20-39 71.4 (68.3, 74.2) 28.6 (25.8, 31.7) 52.1 (48.2, 55.9) 38.5 (35.1, 42.1) 9.4 (6.8, 12.8)
40-59 71.7 (69.3, 73.9) 28.3 (26.1, 30.7) 52.9 (49.6, 56.3) 37.4 (33.5, 41.6) 9.6 (7.2, 12.6)
>=60 72.2 (70.0, 74.2) 27.8 (25.8, 30.0) 53.3 (49.6, 56.9) 37.8 (34.1, 41.6) 9.0 (7.5, 10.7)
Non-Hispanic Black 12-19 65.0 (61.6, 68.3) 35.0 (31.7, 38.4) 40.6 (35.7, 45.8) 48.8 (43.8, 54.0) 10.5 (7.8, 14.1)
20-39 61.8 (59.1, 64.5) 38.2 (35.5, 40.9) 37.8 (34.2, 41.7) 48.0 (43.9, 52.2) 14.1 (11.4, 17.5)
40-59 59.3 (54.8, 63.6) 40.7 (36.4, 45.2) 36.1 (30.5, 42.0) 46.5 (41.6, 51.4) 17.5 (13.6, 22.1)
>=60 60.0 (54.1, 65.6) 40.0 (34.4, 45.9) 36.1 (28.6, 44.3) 47.7 (38.4, 57.2) 16.2 (10.3, 24.5)
Mexican American 12-19 72.6 (67.3, 77.2) 27.4 (22.8, 32.7) 53.5 (46.8, 60.1) 38.1 (32.4, 44.1) 8.4 (4.8, 14.4)
20-39 73.0 (70.6, 75.4) 27.0 (24.6, 29.4) 53.8 (50.6, 57.0) 38.5 (35.8, 41.3) 7.7 (5.7, 10.2)
40-59 75.5 (71.2, 79.2) 24.5 (20.8, 28.8) 56.4 (48.6, 63.9) 38.2 (30.5, 46.4) 5.5 (3.6, 8.2)
>=60 71.0 (67.3, 74.5) 29.0 (25.5, 32.7) 49.0 (43.1, 55.0) 43.9 (37.7, 50.3) 7.1 (4.4, 11.1)
rs2606345 G T GG GT TT
Non-Hispanic White 12-19 35.7 (31.3, 40.3) 64.3 (59.7, 68.7) 12.8 (8.9, 18.1) 45.7 (36.9, 54.7) 41.5 (34.0, 49.4)
20-39 33.8 (30.6, 37.2) 66.2 (62.8, 69.4) 10.5 (7.4, 14.6) 46.7 (41.5, 51.9) 42.9 (38.2, 47.6)
40-59 33.0 (29.6, 36.7) 67.0 (63.3, 70.4) 12.3 (9.2, 16.2) 41.5 (37.9, 45.2) 46.2 (41.8, 50.7)
>=60 33.6 (31.6, 35.7) 66.4 (64.3, 68.4) 10.1 (8.2, 12.4) 47.0 (43.4, 50.6) 42.9 (39.7, 46.2)
Non-Hispanic Black 12-19 84.3 (81.2, 87.0) 15.7 (13.0, 18.8) 71.7 (66.1, 76.8) 25.2 (20.2, 31.0) 3.0 (1.8, 5.2)
20-39 83.6 (80.4, 86.4) 16.4 (13.6, 19.6) 69.8 (64.3, 74.7) 27.7 (23.2, 32.7) 2.5 (1.4, 4.2)
40-59 86.2 (81.9, 89.6) 13.8 (10.4, 18.1) 74.9 (67.7, 80.9) 22.6 (17.4, 28.9) 2.5 (1.4, 4.5)
>=60 81.3 (76.7, 85.2) 18.7 (14.8, 23.3) 65.4 (58.4, 71.8) 31.8 (26.1, 38.2) 2.8 (0.9, 7.9)
Mexican American 12-19 61.0 (56.0, 65.8) 39.0 (34.2, 44.0) 38.4 (31.0, 46.3) 45.2 (38.0, 52.5) 16.5 (12.9, 20.8)
20-39 63.0 (60.0, 65.8) 37.0 (34.2, 40.0) 40.3 (36.5, 44.2) 45.3 (42.1, 48.5) 14.4 (11.9, 17.2)
40-59 61.0 (56.3, 65.5) 39.0 (34.5, 43.7) 35.6 (27.6, 44.6) 50.7 (41.5, 59.9) 13.7 (10.5, 17.6)
>=60 57.5 (53.7, 61.2) 42.5 (38.8, 46.3) 34.3 (30.8, 38.0) 46.4 (39.6, 53.3) 19.3 (13.8, 26.3)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs2472299 C T CC CT TT
Non-Hispanic White Male 71.9 (69.0, 74.6) 28.1 (25.4, 31.0) 53.1 (49.0, 57.1) 37.6 (34.0, 41.3) 9.3 (7.1, 12.2)
Female 71.7 (69.9, 73.4) 28.3 (26.6, 30.1) 52.6 (48.8, 56.4) 38.2 (33.6, 43.0) 9.2 (7.7, 11.0)
Non-Hispanic Black Male 61.3 (58.4, 64.2) 38.7 (35.8, 41.6) 37.5 (33.3, 41.9) 47.7 (43.7, 51.8) 14.8 (12.4, 17.6)
Female 61.7 (58.6, 64.7) 38.3 (35.3, 41.4) 37.8 (33.6, 42.2) 47.8 (44.4, 51.2) 14.4 (12.0, 17.1)
Mexican American Male 73.4 (69.5, 77.0) 26.6 (23.0, 30.5) 53.7 (48.4, 58.9) 39.5 (35.8, 43.2) 6.9 (4.6, 10.1)
Female 73.2 (71.1, 75.2) 26.8 (24.8, 28.9) 54.1 (50.8, 57.4) 38.1 (34.9, 41.5) 7.8 (6.2, 9.6)
rs2606345 G T GG GT TT
Non-Hispanic White Male 35.6 (32.3, 39.1) 64.4 (60.9, 67.7) 12.3 (9.0, 16.6) 46.8 (42.4, 51.2) 41.0 (36.8, 45.3)
Female 32.0 (29.9, 34.1) 68.0 (65.9, 70.1) 10.2 (8.2, 12.7) 43.6 (39.8, 47.4) 46.2 (42.9, 49.5)
Non-Hispanic Black Male 84.2 (81.4, 86.7) 15.8 (13.3, 18.6) 70.8 (65.6, 75.6) 26.8 (22.2, 31.9) 2.4 (1.6, 3.5)
Female 84.0 (80.7, 86.8) 16.0 (13.2, 19.3) 70.8 (65.0, 76.0) 26.4 (21.6, 31.8) 2.8 (2.0, 4.1)
Mexican American Male 61.1 (58.5, 63.8) 38.9 (36.2, 41.5) 38.4 (34.1, 42.9) 45.4 (40.0, 51.0) 16.1 (13.3, 19.5)
Female 62.3 (59.3, 65.1) 37.7 (34.9, 40.7) 38.4 (34.1, 43.0) 47.7 (44.0, 51.5) 13.9 (12.1, 16.0)

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