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U.S. Genome Variation Estimates

CYP1B1 Allele and Genotype Frequencies

Available polymorphism(s)


  Common Designations  

rs number

Nucleotide change Amino acid change

Genotyping method

rs1056836 Ex3+251G>C Val432Leu TaqMan
rs1056837 Ex3+304T>C Asp449Asp TaqMan
rs162557 -2919C>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‡
rs1056836 C G   CC CG GG    
Non-Hispanic White 54.8 (53.2, 56.4) 45.2 (43.6, 46.8) <0.001 30.7 (29.1, 32.4) 48.2 (45.2, 51.1) 21.1 (18.7, 23.8) <0.001 0.42
Non-Hispanic Black 25.0 (23.5, 26.5) 75.0 (73.5, 76.5) 5.9 (4.8, 7.3) 38.2 (35.8, 40.7) 55.9 (53.5, 58.3) 0.14
Mexican American 73.5 (71.1, 75.7) 26.5 (24.3, 28.9) 55.3 (52.0, 58.4) 36.4 (34.2, 38.7) 8.3 (6.9, 10.1) 0.02
Total* 54.0 (52.2, 55.9) 46.0 (44.1, 47.8)   31.3 (29.6, 33.0) 45.5 (43.1, 47.9) 23.2 (20.7, 26.0)    
rs1056837 C T   CC CT TT    
Non-Hispanic White 55.0 (53.3, 56.7) 45.0 (43.3, 46.7) <0.001 31.0 (29.2, 32.9) 47.9 (44.9, 50.9) 21.0 (18.5, 23.7) <0.001 0.21
Non-Hispanic Black 27.3 (25.7, 29.0) 72.7 (71.0, 74.3) 7.2 (6.0, 8.8) 40.1 (37.1, 43.1) 52.6 (49.8, 55.5) 0.52
Mexican American 73.7 (71.2, 76.0) 26.3 (24.0, 28.8) 55.9 (52.8, 59.0) 35.5 (33.7, 37.4) 8.6 (6.7, 10.8) 0.01
Total* 54.5 (52.7, 56.3) 45.5 (43.7, 47.3)   31.7 (30.0, 33.5) 45.5 (43.1, 48.0) 22.7 (20.3, 25.4)    
rs162557 C T   CC CT TT    
Non-Hispanic White 76.8 (74.8, 78.7) 23.2 (21.3, 25.2) <0.001 59.2 (56.5, 61.7) 35.2 (33.4, 37.0) 5.6 (4.2, 7.4) <0.001 0.81
Non-Hispanic Black 78.4 (76.6, 80.0) 21.6 (20.0, 23.4) 61.2 (58.1, 64.2) 34.2 (31.2, 37.5) 4.5 (3.5, 5.9) 0.64
Mexican American 86.9 (85.3, 88.4) 13.1 (11.6, 14.7) 75.6 (72.6, 78.4) 22.6 (20.0, 25.5) 1.7 (1.2, 2.5) 0.99
Total* 78.6 (76.9, 80.2) 21.4 (19.8, 23.1)   62.1 (59.7, 64.4) 33.1 (31.3, 34.9) 4.8 (3.7, 6.3)    

* 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
rs1056836 C G   CC CG GG  
12-19 50.6 (45.6, 55.6) 49.4 (44.4, 54.4) 0.224 26.9 (22.4, 32.1) 47.3 (41.8, 52.8) 25.8 (19.9, 32.7) 0.312
20-39 54.9 (52.3, 57.5) 45.1 (42.5, 47.7) 32.6 (29.5, 35.8) 44.7 (41.4, 48.1) 22.7 (19.9, 25.8)
40-59 53.1 (49.3, 56.8) 46.9 (43.2, 50.7) 30.2 (26.3, 34.3) 45.8 (42.6, 48.9) 24.1 (20.1, 28.5)
>=60 56.1 (52.7, 59.3) 43.9 (40.7, 47.3) 33.3 (29.5, 37.3) 45.5 (41.8, 49.2) 21.2 (17.8, 25.1)
Total 54.0 (52.2, 55.9) 46.0 (44.1, 47.8)   31.3 (29.6, 33.0) 45.5 (43.1, 47.9) 23.2 (20.7, 26.0)  
rs1056837 C T   CC CT TT  
12-19 50.9 (46.1, 55.7) 49.1 (44.3, 53.9) 0.133 27.2 (22.7, 32.3) 47.3 (42.0, 52.7) 25.5 (19.8, 32.1) 0.245
20-39 55.2 (52.8, 57.6) 44.8 (42.4, 47.2) 32.8 (29.8, 36.0) 44.8 (41.3, 48.3) 22.4 (19.7, 25.4)
40-59 53.4 (49.6, 57.2) 46.6 (42.8, 50.4) 30.4 (26.6, 34.5) 46.0 (43.0, 49.0) 23.6 (19.7, 28.1)
>=60 57.3 (54.1, 60.4) 42.7 (39.6, 45.9) 34.7 (30.9, 38.7) 45.1 (41.0, 49.4) 20.2 (16.8, 24.1)
Total 54.5 (52.7, 56.3) 45.5 (43.7, 47.3)   31.7 (30.0, 33.5) 45.5 (43.1, 48.0) 22.7 (20.3, 25.4)  
rs162557 C T   CC CT TT  
12-19 80.7 (78.2, 83.0) 19.3 (17.0, 21.8) 0.096 64.3 (59.7, 68.6) 32.8 (28.2, 37.7) 2.9 (1.6, 5.3) 0.023
20-39 79.4 (77.8, 80.9) 20.6 (19.1, 22.2) 63.8 (61.0, 66.5) 31.2 (27.7, 34.9) 5.0 (3.3, 7.5)
40-59 77.4 (73.7, 80.8) 22.6 (19.2, 26.3) 60.3 (54.5, 65.8) 34.3 (29.7, 39.2) 5.4 (3.7, 7.9)
>=60 77.3 (75.4, 79.1) 22.7 (20.9, 24.6) 59.6 (56.5, 62.6) 35.4 (32.4, 38.5) 5.0 (3.7, 6.7)
Total 78.6 (76.9, 80.2) 21.4 (19.8, 23.1)   62.1 (59.7, 64.4) 33.1 (31.3, 34.9) 4.8 (3.7, 6.3)  

* 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
rs1056836 C G   CC CG GG  
Male 54.8 (51.4, 58.1) 45.2 (41.9, 48.6) 0.398 32.4 (29.1, 35.8) 44.9 (42.0, 47.9) 22.7 (19.0, 26.9) 0.660
Female 53.3 (51.6, 55.0) 46.7 (45.0, 48.4) 30.3 (28.1, 32.6) 46.0 (42.9, 49.2) 23.7 (21.4, 26.1)
Total 54.0 (52.2, 55.9) 46.0 (44.1, 47.8)   31.3 (29.6, 33.0) 45.5 (43.1, 47.9) 23.2 (20.7, 26.0)  
rs1056837 C T   CC CT TT  
Male 55.2 (52.2, 58.2) 44.8 (41.8, 47.8) 0.358 32.4 (29.5, 35.4) 45.7 (42.7, 48.8) 21.9 (18.4, 25.8) 0.615
Female 53.8 (52.0, 55.6) 46.2 (44.4, 48.0) 31.1 (28.8, 33.5) 45.4 (42.4, 48.4) 23.5 (21.3, 25.9)
Total 54.5 (52.7, 56.3) 45.5 (43.7, 47.3)   31.7 (30.0, 33.5) 45.5 (43.1, 48.0) 22.7 (20.3, 25.4)  
rs162557 C T   CC CT TT  
Male 79.3 (77.1, 81.3) 20.7 (18.7, 22.9) 0.261 63.5 (60.3, 66.6) 31.7 (29.0, 34.5) 4.8 (3.4, 6.8) 0.384
Female 78.0 (75.8, 80.0) 22.0 (20.0, 24.2) 60.8 (57.7, 63.8) 34.4 (31.7, 37.2) 4.8 (3.3, 7.0)
Total 78.6 (76.9, 80.2) 21.4 (19.8, 23.1)   62.1 (59.7, 64.4) 33.1 (31.3, 34.9) 4.8 (3.7, 6.3)  

* 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)
rs1056836 C G CC CG GG
Non-Hispanic White 12-19 51.4 (45.0, 57.8) 48.6 (42.2, 55.0) 27.1 (21.5, 33.6) 48.6 (41.9, 55.3) 24.3 (17.0, 33.4)
20-39 55.5 (52.1, 58.9) 44.5 (41.1, 47.9) 31.4 (27.4, 35.7) 48.2 (44.1, 52.3) 20.4 (16.9, 24.3)
40-59 53.2 (49.1, 57.3) 46.8 (42.7, 50.9) 29.1 (24.7, 33.8) 48.3 (44.3, 52.4) 22.6 (18.3, 27.5)
>=60 57.5 (54.4, 60.7) 42.5 (39.3, 45.6) 33.7 (29.7, 38.0) 47.6 (42.8, 52.5) 18.6 (15.1, 22.7)
Non-Hispanic Black 12-19 26.3 (23.0, 29.8) 73.7 (70.2, 77.0) 6.2 (3.7, 10.1) 40.2 (34.6, 46.1) 53.6 (48.1, 59.1)
20-39 25.1 (22.7, 27.7) 74.9 (72.3, 77.3) 6.6 (4.8, 9.1) 37.1 (32.5, 41.8) 56.4 (51.9, 60.7)
40-59 24.0 (21.3, 26.9) 76.0 (73.1, 78.7) 5.2 (3.4, 7.9) 37.5 (33.9, 41.1) 57.3 (53.0, 61.4)
>=60 24.8 (20.7, 29.5) 75.2 (70.5, 79.3) 4.7 (2.4, 9.2) 40.2 (34.8, 46.0) 55.0 (48.3, 61.6)
Mexican American 12-19 73.1 (69.9, 76.1) 26.9 (23.9, 30.1) 56.2 (51.4, 60.9) 33.9 (29.1, 39.0) 9.9 (7.3, 13.3)
20-39 72.8 (69.8, 75.6) 27.2 (24.4, 30.2) 54.4 (50.5, 58.3) 36.9 (34.2, 39.6) 8.7 (6.7, 11.4)
40-59 74.1 (70.7, 77.2) 25.9 (22.8, 29.3) 55.2 (49.6, 60.6) 37.9 (32.4, 43.6) 7.0 (4.8, 10.0)
>=60 76.4 (72.3, 80.1) 23.6 (19.9, 27.7) 58.4 (53.0, 63.6) 36.0 (30.7, 41.8) 5.6 (2.6, 11.6)
rs1056837 C T CC CT TT
Non-Hispanic White 12-19 51.0 (44.6, 57.4) 49.0 (42.6, 55.4) 27.0 (21.2, 33.7) 48.0 (41.9, 54.2) 25.0 (18.0, 33.7)
20-39 55.6 (52.5, 58.7) 44.4 (41.3, 47.5) 31.5 (27.7, 35.6) 48.2 (44.0, 52.3) 20.3 (17.1, 24.0)
40-59 53.3 (49.2, 57.2) 46.7 (42.8, 50.8) 29.1 (24.9, 33.6) 48.3 (44.5, 52.2) 22.6 (18.3, 27.4)
>=60 58.6 (55.4, 61.6) 41.4 (38.4, 44.6) 35.1 (30.9, 39.5) 47.0 (42.0, 52.1) 17.9 (14.5, 21.9)
Non-Hispanic Black 12-19 29.5 (26.5, 32.7) 70.5 (67.3, 73.5) 7.8 (5.2, 11.4) 43.5 (39.3, 47.8) 48.7 (44.3, 53.2)
20-39 26.6 (23.9, 29.6) 73.4 (70.4, 76.1) 7.6 (5.5, 10.4) 38.1 (32.7, 43.8) 54.3 (49.2, 59.3)
40-59 26.9 (23.5, 30.5) 73.1 (69.5, 76.5) 6.9 (4.8, 10.0) 39.8 (35.1, 44.8) 53.2 (47.8, 58.6)
>=60 27.2 (23.1, 31.7) 72.8 (68.3, 76.9) 6.0 (3.4, 10.4) 42.3 (38.1, 46.6) 51.6 (45.7, 57.5)
Mexican American 12-19 73.5 (70.5, 76.4) 26.5 (23.6, 29.5) 57.5 (53.2, 61.8) 32.0 (27.4, 37.1) 10.4 (7.6, 14.2)
20-39 73.1 (69.7, 76.3) 26.9 (23.7, 30.3) 54.8 (50.6, 58.8) 36.7 (34.2, 39.2) 8.6 (6.1, 11.9)
40-59 74.0 (70.6, 77.1) 26.0 (22.9, 29.4) 56.0 (50.5, 61.3) 36.0 (30.7, 41.6) 8.1 (5.8, 11.1)
>=60 76.8 (73.0, 80.2) 23.2 (19.8, 27.0) 58.9 (53.5, 64.1) 35.8 (30.2, 41.7) 5.3 (2.6, 10.6)
rs162557 C T CC CT TT
Non-Hispanic White 12-19 79.3 (76.0, 82.2) 20.7 (17.8, 24.0) 61.6 (55.8, 67.2) 35.3 (29.4, 41.7) 3.1 (1.4, 6.4)
20-39 77.3 (75.2, 79.2) 22.7 (20.8, 24.8) 60.6 (56.9, 64.1) 33.4 (28.7, 38.4) 6.0 (3.9, 9.1)
40-59 75.3 (70.8, 79.3) 24.7 (20.7, 29.2) 57.0 (50.3, 63.5) 36.6 (31.2, 42.3) 6.4 (4.2, 9.7)
>=60 76.5 (74.4, 78.5) 23.5 (21.5, 25.6) 58.3 (54.9, 61.6) 36.5 (33.2, 40.0) 5.2 (3.7, 7.3)
Non-Hispanic Black 12-19 79.7 (76.0, 83.0) 20.3 (17.0, 24.0) 63.8 (57.7, 69.5) 31.8 (26.1, 38.1) 4.3 (2.3, 7.9)
20-39 77.7 (74.8, 80.4) 22.3 (19.6, 25.2) 61.0 (56.2, 65.7) 33.3 (28.6, 38.4) 5.6 (3.8, 8.3)
40-59 78.9 (76.6, 81.0) 21.1 (19.0, 23.4) 61.5 (57.3, 65.6) 34.8 (30.4, 39.5) 3.7 (2.3, 5.8)
>=60 77.5 (74.5, 80.3) 22.5 (19.7, 25.5) 57.9 (52.8, 62.9) 39.2 (34.4, 44.3) 2.9 (1.5, 5.3)
Mexican American 12-19 84.3 (81.2, 87.1) 15.7 (12.9, 18.8) 71.4 (66.2, 76.1) 25.9 (21.5, 30.9) 2.7 (1.3, 5.5)
20-39 87.7 (85.9, 89.4) 12.3 (10.6, 14.1) 76.8 (73.0, 80.2) 21.8 (18.2, 26.0) 1.3 (0.8, 2.2)
40-59 86.3 (83.4, 88.9) 13.7 (11.1, 16.6) 74.8 (69.9, 79.2) 23.1 (19.0, 27.7) 2.1 (1.0, 4.5)
>=60 90.0 (87.6, 92.0) 10.0 (8.0, 12.4) 80.8 (75.7, 85.1) 18.4 (13.7, 24.1) 0.8 (0.2, 2.9)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1056836 C G CC CG GG
Non-Hispanic White Male 55.3 (51.5, 59.0) 44.7 (41.0, 48.5) 31.6 (27.6, 35.8) 47.3 (43.8, 50.9) 21.1 (17.2, 25.6)
Female 54.4 (51.9, 56.8) 45.6 (43.2, 48.1) 29.9 (26.9, 33.1) 48.9 (45.2, 52.7) 21.2 (18.2, 24.4)
Non-Hispanic Black Male 24.8 (22.3, 27.4) 75.2 (72.6, 77.7) 5.2 (3.8, 7.2) 39.1 (35.5, 42.8) 55.7 (51.6, 59.7)
Female 25.2 (22.9, 27.7) 74.8 (72.3, 77.1) 6.5 (4.6, 9.1) 37.4 (34.3, 40.7) 56.1 (52.6, 59.5)
Mexican American Male 73.9 (70.9, 76.7) 26.1 (23.3, 29.1) 55.9 (51.5, 60.2) 36.0 (32.0, 40.2) 8.1 (6.0, 10.9)
Female 73.0 (69.9, 75.9) 27.0 (24.1, 30.1) 54.6 (49.5, 59.5) 36.9 (32.5, 41.5) 8.6 (6.9, 10.6)
rs1056837 C T CC CT TT
Non-Hispanic White Male 55.4 (52.2, 58.6) 44.6 (41.4, 47.8) 31.5 (28.1, 35.1) 47.9 (44.3, 51.5) 20.6 (17.1, 24.7)
Female 54.6 (52.0, 57.3) 45.4 (42.7, 48.0) 30.6 (27.5, 33.9) 48.0 (44.5, 51.5) 21.4 (18.4, 24.7)
Non-Hispanic Black Male 27.2 (24.5, 30.0) 72.8 (70.0, 75.5) 5.9 (4.2, 8.1) 42.6 (38.7, 46.5) 51.6 (47.2, 55.9)
Female 27.4 (25.1, 29.8) 72.6 (70.2, 74.9) 8.4 (6.4, 10.9) 38.1 (35.0, 41.2) 53.6 (50.2, 56.8)
Mexican American Male 74.1 (70.9, 77.1) 25.9 (22.9, 29.1) 56.1 (51.6, 60.5) 36.0 (32.2, 40.0) 7.9 (5.7, 10.9)
Female 73.3 (70.0, 76.2) 26.7 (23.8, 30.0) 55.8 (51.1, 60.4) 34.9 (30.5, 39.6) 9.3 (6.9, 12.4)
rs162557 C T CC CT TT
Non-Hispanic White Male 77.8 (74.9, 80.4) 22.2 (19.6, 25.1) 61.2 (57.2, 65.1) 33.1 (29.9, 36.4) 5.7 (3.8, 8.4)
Female 75.8 (73.4, 78.1) 24.2 (21.9, 26.6) 57.2 (54.0, 60.4) 37.2 (34.3, 40.3) 5.5 (3.6, 8.3)
Non-Hispanic Black Male 78.7 (76.4, 80.9) 21.3 (19.1, 23.6) 61.1 (57.5, 64.6) 35.2 (32.1, 38.4) 3.7 (2.4, 5.5)
Female 78.1 (75.3, 80.6) 21.9 (19.4, 24.7) 61.3 (56.8, 65.6) 33.4 (29.5, 37.7) 5.2 (3.8, 7.2)
Mexican American Male 87.5 (85.2, 89.4) 12.5 (10.6, 14.8) 76.6 (72.4, 80.4) 21.7 (18.0, 25.8) 1.7 (1.0, 2.8)
Female 86.4 (83.7, 88.7) 13.6 (11.3, 16.3) 74.6 (70.2, 78.5) 23.7 (20.4, 27.3) 1.8 (1.0, 3.0)

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