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 |
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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