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U.S. Genome Variation Estimates

ADH1C Allele and Genotype Frequencies

Available polymorphism(s)

  Common Designations  
rs number Nucleotide change Amino acid change

Genotyping method

rs1693482 Ex6-14G>A Arg272Gln TaqMan
rs698 Ex8-56A>G Ile350Val 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‡
rs1693482 A G   AA AG GG    
Non-Hispanic White 38.5 (35.4, 41.7) 61.5 (58.3, 64.6) <0.001 15.5 (13.3, 18.1) 45.9 (43.3, 48.4) 38.6 (34.5, 42.9) <0.001 0.91
Non-Hispanic Black 14.6 (12.8, 16.5) 85.4 (83.5, 87.2) 2.3 (1.5, 3.3) 24.6 (21.7, 27.6) 73.2 (69.9, 76.2) 0.37
Mexican American 34.1 (32.5, 35.8) 65.9 (64.2, 67.5) 11.1 (9.6, 12.9) 46.0 (43.3, 48.6) 42.9 (40.5, 45.4) 0.35
Total* 33.8 (31.4, 36.3) 66.2 (63.7, 68.6)   12.9 (11.1, 15.1) 41.7 (39.8, 43.6) 45.4 (42.3, 48.5)    
rs698 A G   AA AG GG    
Non-Hispanic White 60.6 (57.5, 63.5) 39.4 (36.5, 42.5) <0.001 37.4 (33.4, 41.5) 46.4 (43.6, 49.2) 16.2 (14.0, 18.7) <0.001 0.93
Non-Hispanic Black 85.1 (83.2, 86.8) 14.9 (13.2, 16.8) 72.6 (69.4, 75.6) 25.0 (22.2, 28.0) 2.4 (1.6, 3.5) 0.26
Mexican American 68.9 (67.0, 70.7) 31.1 (29.3, 33.0) 49.2 (46.8, 51.5) 39.4 (37.1, 41.7) 11.5 (9.7, 13.5) <0.01
Total* 65.6 (63.1, 68.0) 34.4 (32.0, 36.9)   44.8 (41.5, 48.1) 41.7 (39.5, 43.9) 13.5 (11.7, 15.6)    

* 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
rs1693482 A G   AA AG GG  
12-19 34.7 (29.8, 40.0) 65.3 (60.0, 70.2) 0.874 15.0 (10.1, 21.6) 39.5 (34.7, 44.4) 45.5 (39.9, 51.3) 0.643
20-39 33.2 (30.5, 36.1) 66.8 (63.9, 69.5) 11.8 (9.9, 13.9) 42.9 (40.1, 45.8) 45.3 (41.4, 49.3)
40-59 34.0 (30.3, 37.9) 66.0 (62.1, 69.7) 13.8 (11.1, 17.1) 40.4 (36.7, 44.1) 45.8 (40.7, 51.0)
>=60 33.9 (31.5, 36.4) 66.1 (63.6, 68.5) 12.6 (10.3, 15.2) 42.6 (39.2, 46.2) 44.8 (41.3, 48.3)
Total 33.8 (31.4, 36.3) 66.2 (63.7, 68.6)   12.9 (11.1, 15.1) 41.7 (39.8, 43.6) 45.4 (42.3, 48.5)  
rs698 A G   AA AG GG  
12-19 64.9 (59.4, 70.0) 35.1 (30.0, 40.6) 0.876 45.0 (38.9, 51.3) 39.7 (34.1, 45.6) 15.2 (10.2, 22.1) 0.785
20-39 66.2 (63.3, 68.9) 33.8 (31.1, 36.7) 44.8 (41.1, 48.7) 42.7 (39.9, 45.5) 12.5 (10.4, 14.9)
40-59 65.2 (61.2, 69.0) 34.8 (31.0, 38.8) 44.8 (39.3, 50.4) 40.8 (36.8, 45.0) 14.4 (11.7, 17.5)
>=60 65.5 (63.1, 67.9) 34.5 (32.1, 36.9) 44.3 (40.9, 47.8) 42.4 (39.0, 45.8) 13.3 (11.2, 15.7)
Total 65.6 (63.1, 68.0) 34.4 (32.0, 36.9)   44.8 (41.5, 48.1) 41.7 (39.5, 43.9) 13.5 (11.7, 15.6)  

* 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
rs1693482 A G   AA AG GG  
Male 33.5 (30.4, 36.7) 66.5 (63.3, 69.6) 0.621 13.0 (10.9, 15.3) 41.1 (37.7, 44.6) 45.9 (41.4, 50.5) 0.835
Female 34.0 (31.9, 36.3) 66.0 (63.7, 68.1) 12.9 (10.7, 15.6) 42.2 (39.9, 44.6) 44.8 (42.3, 47.4)
Total 33.8 (31.4, 36.3) 66.2 (63.7, 68.6)   12.9 (11.1, 15.1) 41.7 (39.8, 43.6) 45.4 (42.3, 48.5)  
rs698 A G   AA AG GG  
Male 65.9 (62.5, 69.1) 34.1 (30.9, 37.5) 0.679 45.3 (40.3, 50.4) 41.1 (36.9, 45.3) 13.6 (11.6, 15.8) 0.865
Female 65.4 (63.2, 67.5) 34.6 (32.5, 36.8) 44.2 (41.8, 46.7) 42.3 (40.1, 44.5) 13.5 (11.3, 16.1)
Total 65.6 (63.1, 68.0) 34.4 (32.0, 36.9)   44.8 (41.5, 48.1) 41.7 (39.5, 43.9) 13.5 (11.7, 15.6)  

* 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)
rs1693482 A G AA AG GG
Non-Hispanic White 12-19 41.9 (35.3, 48.8) 58.1 (51.2, 64.7) 19.0 (12.5, 27.8) 45.8 (39.2, 52.5) 35.2 (28.1, 43.1)
20-39 38.3 (34.5, 42.3) 61.7 (57.7, 65.5) 14.6 (12.3, 17.3) 47.3 (42.9, 51.8) 38.1 (32.4, 44.0)
40-59 38.0 (33.2, 42.9) 62.0 (57.1, 66.8) 16.2 (12.9, 20.2) 43.5 (39.1, 47.9) 40.3 (33.9, 47.0)
>=60 37.6 (35.3, 39.9) 62.4 (60.1, 64.7) 14.2 (11.7, 17.2) 46.7 (42.8, 50.6) 39.1 (35.8, 42.5)
Non-Hispanic Black 12-19 13.5 (10.7, 16.7) 86.5 (83.3, 89.3) 2.1 (0.9, 5.1) 22.6 (18.2, 27.7) 75.2 (69.8, 79.9)
20-39 14.3 (12.4, 16.4) 85.7 (83.6, 87.6) 2.0 (1.2, 3.1) 24.7 (21.3, 28.4) 73.4 (69.5, 76.8)
40-59 15.0 (12.4, 18.0) 85.0 (82.0, 87.6) 2.3 (1.1, 4.9) 25.3 (21.0, 30.2) 72.4 (67.3, 76.9)
>=60 16.0 (12.5, 20.2) 84.0 (79.8, 87.5) 3.3 (1.6, 6.7) 25.3 (19.8, 31.7) 71.4 (64.5, 77.4)
Mexican American 12-19 33.8 (30.0, 37.7) 66.2 (62.3, 70.0) 11.7 (8.7, 15.7) 44.1 (38.8, 49.5) 44.2 (38.7, 49.9)
20-39 34.3 (32.0, 36.6) 65.7 (63.4, 68.0) 11.2 (9.0, 13.7) 46.2 (41.8, 50.7) 42.6 (38.8, 46.5)
40-59 34.5 (31.2, 37.9) 65.5 (62.1, 68.8) 10.8 (7.8, 14.6) 47.4 (42.8, 52.0) 41.8 (37.2, 46.6)
>=60 33.0 (28.3, 38.2) 67.0 (61.8, 71.7) 10.4 (6.9, 15.4) 45.3 (39.5, 51.2) 44.3 (37.4, 51.4)
rs698 A G AA AG GG
Non-Hispanic White 12-19 57.3 (50.3, 64.1) 42.7 (35.9, 49.7) 33.9 (26.3, 42.4) 46.9 (39.1, 54.7) 19.3 (12.6, 28.3)
20-39 60.6 (56.9, 64.1) 39.4 (35.9, 43.1) 36.7 (31.8, 41.9) 47.8 (43.8, 51.8) 15.5 (12.9, 18.6)
40-59 61.0 (55.9, 65.8) 39.0 (34.2, 44.1) 38.8 (32.1, 45.9) 44.4 (39.7, 49.2) 16.8 (13.6, 20.5)
>=60 61.7 (59.3, 64.1) 38.3 (35.9, 40.7) 38.5 (35.3, 41.8) 46.4 (42.8, 50.0) 15.1 (12.6, 18.0)
Non-Hispanic Black 12-19 85.9 (82.6, 88.8) 14.1 (11.2, 17.4) 74.5 (69.1, 79.2) 22.9 (18.6, 27.8) 2.6 (1.2, 5.6)
20-39 85.6 (83.5, 87.6) 14.4 (12.4, 16.5) 73.2 (69.3, 76.8) 24.8 (21.3, 28.7) 1.9 (1.2, 3.1)
40-59 84.5 (81.3, 87.2) 15.5 (12.8, 18.7) 71.5 (66.2, 76.2) 26.0 (21.3, 31.3) 2.5 (1.1, 5.7)
>=60 83.5 (79.3, 87.0) 16.5 (13.0, 20.7) 70.3 (63.4, 76.3) 26.5 (20.9, 32.9) 3.3 (1.6, 6.6)
Mexican American 12-19 70.6 (66.3, 74.6) 29.4 (25.4, 33.7) 52.9 (47.2, 58.6) 35.3 (30.5, 40.5) 11.7 (8.5, 16.0)
20-39 68.3 (66.2, 70.3) 31.7 (29.7, 33.8) 48.4 (45.0, 51.9) 39.7 (35.7, 43.9) 11.9 (9.9, 14.2)
40-59 68.4 (65.0, 71.6) 31.6 (28.4, 35.0) 47.7 (43.8, 51.5) 41.5 (38.8, 44.3) 10.8 (8.0, 14.6)
>=60 69.3 (64.4, 73.8) 30.7 (26.2, 35.6) 48.6 (41.4, 55.9) 41.4 (34.9, 48.3) 10.0 (6.9, 14.2)

 

By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1693482 A G AA AG GG
Non-Hispanic White Male 38.0 (34.1, 42.1) 62.0 (57.9, 65.9) 15.5 (12.9, 18.6) 45.0 (40.8, 49.2) 39.5 (34.0, 45.3)
Female 38.9 (36.1, 41.8) 61.1 (58.2, 63.9) 15.6 (13.1, 18.4) 46.7 (43.5, 49.9) 37.8 (34.0, 41.7)
Non-Hispanic Black Male 15.3 (13.0, 17.9) 84.7 (82.1, 87.0) 2.2 (1.2, 3.9) 26.2 (21.9, 30.9) 71.6 (66.9, 75.9)
Female 13.9 (11.9, 16.2) 86.1 (83.8, 88.1) 2.3 (1.4, 3.8) 23.2 (20.2, 26.5) 74.5 (70.7, 77.9)
Mexican American Male 33.0 (30.4, 35.7) 67.0 (64.3, 69.6) 10.5 (8.1, 13.5) 45.0 (41.6, 48.5) 44.5 (40.9, 48.1)
Female 35.3 (33.2, 37.4) 64.7 (62.6, 66.8) 11.8 (9.4, 14.8) 46.9 (43.0, 50.9) 41.3 (38.3, 44.3)
rs698 A G AA AG GG
Non-Hispanic White Male 61.0 (57.0, 64.9) 39.0 (35.1, 43.0) 38.2 (32.3, 44.5) 45.5 (40.4, 50.7) 16.3 (13.7, 19.2)
Female 60.1 (57.4, 62.8) 39.9 (37.2, 42.6) 36.5 (33.2, 40.0) 47.2 (44.5, 50.0) 16.2 (13.8, 19.0)
Non-Hispanic Black Male 84.1 (81.2, 86.6) 15.9 (13.4, 18.8) 70.7 (65.5, 75.4) 26.8 (22.2, 32.0) 2.5 (1.5, 4.2)
Female 86.0 (83.7, 87.9) 14.0 (12.1, 16.3) 74.2 (70.6, 77.5) 23.5 (20.6, 26.6) 2.3 (1.4, 3.8)
Mexican American Male 69.9 (67.5, 72.2) 30.1 (27.8, 32.5) 50.2 (47.5, 53.0) 39.4 (36.1, 42.8) 10.4 (7.7, 13.8)
Female 67.8 (65.2, 70.2) 32.2 (29.8, 34.8) 48.1 (44.8, 51.4) 39.3 (35.7, 43.1) 12.6 (10.0, 15.7)

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