ADH1B Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
|
rs number
|
Nucleotide change |
Amino acid change |
Genotyping method
|
|
rs1229984
|
Ex3+23G>A |
Arg48His |
TaqMan |
| rs17033 |
Ex9+77A>G |
|
TaqMan |
| rs2066702 |
Ex9+5C>T |
Arg370Cys |
TaqMan |
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs1229984 |
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
4.7 (3.9, 5.6) |
95.3 (94.4, 96.1) |
<0.001 |
0.2 (0.1, 0.5) |
9.0 (7.6, 10.7) |
90.8 (89.0, 92.3) |
<0.001 |
0.89 |
| Non-Hispanic Black |
1.4 (0.8, 2.3) |
98.6 (97.7, 99.2) |
0.0 (NA) |
2.7 (1.6, 4.6) |
97.3 (95.4, 98.4) |
0.59 |
| Mexican American |
5.5 (4.8, 6.2) |
94.5 (93.8, 95.2) |
0.1 (0.0, 0.3) |
10.8 (9.4, 12.3) |
89.2 (87.7, 90.5) |
0.14 |
| Total* |
6.4 (5.5, 7.5) |
93.6 (92.5, 94.5) |
|
1.6 (1.1, 2.3) |
9.7 (8.4, 11.1) |
88.8 (87.0, 90.3) |
|
|
| rs17033 |
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
91.5 (90.8, 92.2) |
8.5 (7.8, 9.2) |
<0.001 |
83.8 (82.5, 85.1) |
15.4 (14.0, 16.9) |
0.8 (0.4, 1.4) |
<0.001 |
0.82 |
| Non-Hispanic Black |
93.1 (91.9, 94.1) |
6.9 (5.9, 8.1) |
86.9 (84.8, 88.7) |
12.5 (10.8, 14.4) |
0.6 (0.3, 1.4) |
0.02 |
| Mexican American |
70.0 (67.9, 72.0) |
30.0 (28.0, 32.1) |
49.3 (46.1, 52.5) |
41.3 (38.3, 44.5) |
9.4 (7.8, 11.2) |
0.10 |
| Total* |
90.0 (89.1, 90.8) |
10.0 (9.2, 10.9) |
|
81.4 (79.7, 82.9) |
17.2 (15.7, 18.8) |
1.4 (1.0, 1.9) |
|
|
| rs2066702 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
99.6 (99.3, 99.8) |
0.4 (0.2, 0.7) |
<0.001 |
99.2 (98.7, 99.6) |
0.8 (0.4, 1.3) |
0.0 (NA) |
<0.001 |
0.86 |
| Non-Hispanic Black |
80.0 (78.5, 81.5) |
20.0 (18.5, 21.5) |
64.0 (61.5, 66.4) |
32.1 (29.8, 34.5) |
3.9 (3.0, 5.1) |
0.52 |
| Mexican American |
99.1 (98.6, 99.5) |
0.9 (0.5, 1.4) |
98.3 (97.3, 98.9) |
1.7 (1.1, 2.7) |
0.0 (NA) |
0.67 |
| Total* |
97.1 (96.4, 97.7) |
2.9 (2.3, 3.6) |
|
94.7 (93.4, 95.8) |
4.8 (3.8, 6.0) |
0.5 (0.3, 0.6) |
|
|
* 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 |
| rs1229984 |
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
8.1 (5.2, 12.6) |
91.9 (87.4, 94.8) |
0.412 |
2.6 (1.1, 6.0) |
11.1 (7.6, 15.9) |
86.3 (79.9, 90.9) |
0.269 |
| 20-39 |
5.9 (4.5, 7.7) |
94.1 (92.3, 95.5) |
1.3 (0.6, 2.6) |
9.3 (7.5, 11.5) |
89.4 (86.7, 91.6) |
| 40-59 |
6.4 (5.0, 8.1) |
93.6 (91.9, 95.0) |
1.9 (1.3, 2.7) |
8.9 (6.7, 11.9) |
89.2 (86.1, 91.6) |
| >=60 |
6.3 (5.3, 7.4) |
93.7 (92.6, 94.7) |
1.1 (0.5, 2.3) |
10.4 (8.3, 12.9) |
88.5 (86.3, 90.4) |
| Total |
6.4 (5.5, 7.5) |
93.6 (92.5, 94.5) |
|
1.6 (1.1, 2.3) |
9.7 (8.4, 11.1) |
88.8 (87.0, 90.3) |
|
| rs17033 |
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
91.3 (88.9, 93.2) |
8.7 (6.8, 11.1) |
0.153 |
84.2 (80.1, 87.5) |
14.2 (11.2, 17.9) |
1.6 (0.9, 3.0) |
0.058 |
| 20-39 |
89.4 (88.1, 90.6) |
10.6 (9.4, 11.9) |
80.4 (77.9, 82.6) |
18.1 (15.7, 20.7) |
1.6 (0.9, 2.5) |
| 40-59 |
89.3 (87.7, 90.8) |
10.7 (9.2, 12.3) |
80.1 (77.2, 82.7) |
18.6 (16.1, 21.4) |
1.4 (0.8, 2.4) |
| >=60 |
91.1 (89.4, 92.6) |
8.9 (7.4, 10.6) |
83.3 (80.2, 86.0) |
15.6 (13.2, 18.5) |
1.1 (0.6, 1.9) |
| Total |
90.0 (89.1, 90.8) |
10.0 (9.2, 10.9) |
|
81.4 (79.7, 82.9) |
17.2 (15.7, 18.8) |
1.4 (1.0, 1.9) |
|
| rs2066702 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
96.4 (95.2, 97.3) |
3.6 (2.7, 4.8) |
0.021 |
93.4 (91.4, 94.9) |
6.1 (4.8, 7.7) |
0.6 (0.2, 1.3) |
0.002 |
| 20-39 |
96.8 (95.8, 97.6) |
3.2 (2.4, 4.2) |
94.1 (92.2, 95.5) |
5.4 (4.1, 7.2) |
0.5 (0.3, 0.7) |
| 40-59 |
97.4 (96.4, 98.1) |
2.6 (1.9, 3.6) |
95.3 (93.4, 96.6) |
4.3 (2.9, 6.2) |
0.5 (0.3, 0.8) |
| >=60 |
97.9 (97.1, 98.5) |
2.1 (1.5, 2.9) |
96.2 (94.7, 97.3) |
3.4 (2.4, 4.8) |
0.4 (0.2, 0.8) |
| Total |
97.1 (96.4, 97.7) |
2.9 (2.3, 3.6) |
|
94.7 (93.4, 95.8) |
4.8 (3.8, 6.0) |
0.5 (0.3, 0.6) |
|
* 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 |
| rs1229984 |
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
6.9 (5.6, 8.5) |
93.1 (91.5, 94.4) |
0.216 |
1.7 (0.8, 3.3) |
10.4 (8.9, 12.2) |
87.9 (85.6, 89.9) |
0.462 |
| Female |
6.0 (4.9, 7.2) |
94.0 (92.8, 95.1) |
1.5 (1.1, 1.9) |
9.0 (7.1, 11.3) |
89.5 (87.2, 91.5) |
| Total |
6.4 (5.5, 7.5) |
93.6 (92.5, 94.5) |
|
1.6 (1.1, 2.3) |
9.7 (8.4, 11.1) |
88.8 (87.0, 90.3) |
|
| rs17033 |
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
89.9 (88.7, 91.0) |
10.1 (9.0, 11.3) |
0.859 |
80.8 (78.5, 82.9) |
18.2 (16.3, 20.3) |
1.0 (0.6, 1.6) |
0.083 |
| Female |
90.0 (88.8, 91.2) |
10.0 (8.8, 11.2) |
81.9 (79.7, 83.9) |
16.3 (14.4, 18.4) |
1.8 (1.2, 2.7) |
| Total |
90.0 (89.1, 90.8) |
10.0 (9.2, 10.9) |
|
81.4 (79.7, 82.9) |
17.2 (15.7, 18.8) |
1.4 (1.0, 1.9) |
|
| rs2066702 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
97.0 (96.0, 97.8) |
3.0 (2.2, 4.0) |
0.435 |
94.5 (92.7, 95.9) |
5.0 (3.8, 6.6) |
0.5 (0.3, 0.8) |
0.750 |
| Female |
97.2 (96.6, 97.8) |
2.8 (2.2, 3.4) |
94.9 (93.8, 95.9) |
4.7 (3.8, 5.8) |
0.4 (0.3, 0.6) |
| Total |
97.1 (96.4, 97.7) |
2.9 (2.3, 3.6) |
|
94.7 (93.4, 95.8) |
4.8 (3.8, 6.0) |
0.5 (0.3, 0.6) |
|
* 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) |
| rs4646994 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
6.1 (4.0, 9.3) |
93.9 (90.7, 96.0) |
0.4 (0.1, 3.1) |
11.4 (7.9, 16.2) |
88.2 (82.8, 92.1) |
| 20-39 |
4.3 (3.3, 5.5) |
95.7 (94.5, 96.7) |
0.2 (0.0, 1.5) |
8.2 (6.3, 10.5) |
91.7 (89.3, 93.5) |
| 40-59 |
4.3 (2.9, 6.1) |
95.7 (93.9, 97.1) |
0.0 (NA) |
8.5 (5.8, 12.2) |
91.5 (87.8, 94.2) |
| >=60 |
5.1 (4.1, 6.3) |
94.9 (93.7, 95.9) |
0.2 (0.1, 0.7) |
9.8 (7.7, 12.4) |
90.0 (87.5, 92.0) |
| Non-Hispanic Black |
12-19 |
1.2 (0.7, 2.1) |
98.8 (97.9, 99.3) |
0.0 (NA) |
2.4 (1.4, 4.2) |
97.6 (95.8, 98.6) |
| 20-39 |
1.4 (0.7, 3.1) |
98.6 (96.9, 99.3) |
0.0 (NA) |
2.9 (1.3, 6.1) |
97.1 (93.9, 98.7) |
| 40-59 |
1.8 (0.8, 3.9) |
98.2 (96.1, 99.2) |
0.0 (NA) |
3.5 (1.6, 7.8) |
96.5 (92.2, 98.4) |
| >=60 |
0.6 (0.2, 2.0) |
99.4 (98.0, 99.8) |
0.0 (NA) |
1.1 (0.3, 4.0) |
98.9 (96.0, 99.7) |
| Mexican American |
12-19 |
6.0 (4.7, 7.7) |
94.0 (92.3, 95.3) |
0.1 (0.0, 0.7) |
11.9 (9.2, 15.2) |
88.0 (84.7, 90.7) |
| 20-39 |
5.1 (4.1, 6.4) |
94.9 (93.6, 95.9) |
0.1 (0.0, 0.7) |
10.1 (7.9, 12.9) |
89.8 (87.1, 91.9) |
| 40-59 |
5.3 (3.9, 7.3) |
94.7 (92.7, 96.1) |
0.0 (NA) |
10.7 (7.8, 14.5) |
89.3 (85.5, 92.2) |
| >=60 |
6.2 (4.2, 9.1) |
93.8 (90.9, 95.8) |
0.2 (0.0, 1.4) |
12.0 (7.9, 17.9) |
87.8 (82.0, 91.9) |
| rs17033 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
93.3 (90.4, 95.4) |
6.7 (4.6, 9.6) |
86.9 (81.6, 90.8) |
12.9 (9.1, 17.8) |
0.2 (0.0, 1.9) |
| 20-39 |
91.5 (90.1, 92.7) |
8.5 (7.3, 9.9) |
83.7 (80.8, 86.2) |
15.7 (12.9, 18.9) |
0.7 (0.2, 2.5) |
| 40-59 |
90.3 (88.4, 91.8) |
9.7 (8.2, 11.6) |
81.6 (78.4, 84.4) |
17.3 (14.6, 20.4) |
1.1 (0.5, 2.5) |
| >=60 |
92.3 (90.4, 93.9) |
7.7 (6.1, 9.6) |
85.4 (82.0, 88.2) |
13.9 (11.4, 16.9) |
0.7 (0.3, 1.8) |
| Non-Hispanic Black |
12-19 |
94.2 (91.9, 95.9) |
5.8 (4.1, 8.1) |
89.6 (86.2, 92.3) |
9.1 (6.9, 12.0) |
1.2 (0.4, 3.7) |
| 20-39 |
92.6 (90.7, 94.2) |
7.4 (5.8, 9.3) |
85.7 (82.0, 88.7) |
13.9 (10.9, 17.5) |
0.4 (0.2, 1.3) |
| 40-59 |
93.7 (91.4, 95.4) |
6.3 (4.6, 8.6) |
87.4 (82.9, 90.8) |
12.6 (9.2, 17.1) |
0.0 (NA) |
| >=60 |
92.2 (88.1, 95.0) |
7.8 (5.0, 11.9) |
86.0 (79.5, 90.6) |
12.5 (8.2, 18.6) |
1.5 (0.4, 6.4) |
| Mexican American |
12-19 |
69.8 (66.2, 73.1) |
30.2 (26.9, 33.8) |
50.7 (44.8, 56.7) |
38.1 (31.5, 45.2) |
11.1 (8.1, 15.1) |
| 20-39 |
70.9 (68.0, 73.7) |
29.1 (26.3, 32.0) |
50.1 (45.6, 54.5) |
41.6 (37.1, 46.3) |
8.3 (6.0, 11.2) |
| 40-59 |
68.1 (65.7, 70.5) |
31.9 (29.5, 34.3) |
46.2 (43.2, 49.2) |
43.9 (40.1, 47.7) |
9.9 (7.2, 13.6) |
| >=60 |
69.4 (63.8, 74.5) |
30.6 (25.5, 36.2) |
48.9 (41.7, 56.1) |
41.0 (35.7, 46.5) |
10.1 (6.5, 15.4) |
| rs2066702 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
100.0 (NA) |
0.0 (NA) |
100.0 (NA) |
0.0 (NA) |
0.0 (NA) |
| 20-39 |
99.5 (98.5, 99.8) |
0.5 (0.2, 1.5) |
98.9 (97.1, 99.6) |
1.1 (0.4, 2.9) |
0.0 (NA) |
| 40-59 |
99.7 (99.0, 99.9) |
0.3 (0.1, 1.0) |
99.3 (98.0, 99.8) |
0.7 (0.2, 2.0) |
0.0 (NA) |
| >=60 |
99.6 (99.2, 99.8) |
0.4 (0.2, 0.8) |
99.2 (98.4, 99.6) |
0.8 (0.4, 1.6) |
0.0 (NA) |
| Non-Hispanic Black |
12-19 |
79.3 (76.5, 81.9) |
20.7 (18.1, 23.5) |
62.0 (58.0, 65.8) |
34.7 (31.0, 38.6) |
3.4 (1.6, 7.1) |
| 20-39 |
79.6 (77.3, 81.8) |
20.4 (18.2, 22.7) |
63.0 (59.2, 66.5) |
33.3 (30.0, 36.8) |
3.7 (2.4, 5.7) |
| 40-59 |
81.1 (79.2, 82.9) |
18.9 (17.1, 20.8) |
66.7 (62.8, 70.4) |
28.8 (24.1, 34.0) |
4.5 (2.7, 7.2) |
| >=60 |
80.2 (74.7, 84.8) |
19.8 (15.2, 25.3) |
64.8 (55.8, 72.9) |
30.8 (23.1, 39.7) |
4.4 (2.0, 9.2) |
| Mexican American |
12-19 |
98.8 (96.5, 99.6) |
1.2 (0.4, 3.5) |
97.6 (93.1, 99.2) |
2.4 (0.8, 6.9) |
0.0 (NA) |
| 20-39 |
99.3 (98.8, 99.6) |
0.7 (0.4, 1.2) |
98.6 (97.6, 99.2) |
1.4 (0.8, 2.4) |
0.0 (NA) |
| 40-59 |
99.2 (98.0, 99.6) |
0.8 (0.4, 2.0) |
98.3 (96.1, 99.3) |
1.7 (0.7, 3.9) |
0.0 (NA) |
| >=60 |
99.0 (98.2, 99.5) |
1.0 (0.5, 1.8) |
98.1 (96.4, 99.0) |
1.9 (1.0, 3.6) |
0.0 (NA) |
By Race/Ethnicity and Sex
By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs1229984 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
5.3 (4.2, 6.6) |
94.7 (93.4, 95.8) |
0.2 (0.0, 1.0) |
10.2 (8.3, 12.6) |
89.6 (87.1, 91.7) |
| Female |
4.1 (3.0, 5.6) |
95.9 (94.4, 97.0) |
0.2 (0.0, 0.7) |
7.9 (5.8, 10.5) |
92.0 (89.2, 94.1) |
| Non-Hispanic Black |
Male |
1.6 (0.8, 3.4) |
98.4 (96.6, 99.2) |
0.0 (NA) |
3.3 (1.5, 6.8) |
96.7 (93.2, 98.5) |
| Female |
1.1 (0.7, 1.8) |
98.9 (98.2, 99.3) |
0.0 (NA) |
2.3 (1.4, 3.6) |
97.7 (96.4, 98.6) |
| Mexican American |
Male |
5.0 (4.3, 5.7) |
95.0 (94.3, 95.7) |
0.1 (0.0, 0.6) |
9.7 (8.4, 11.3) |
90.2 (88.7, 91.5) |
| Female |
6.0 (4.9, 7.2) |
94.0 (92.8, 95.1) |
0.0 (0.0, 0.2) |
11.9 (9.8, 14.3) |
88.1 (85.6, 90.2) |
| rs17033 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
91.3 (90.1, 92.4) |
8.7 (7.6, 9.9) |
83.0 (80.8, 85.1) |
16.7 (14.6, 18.9) |
0.3 (0.1, 1.6) |
| Female |
91.7 (90.5, 92.8) |
8.3 (7.2, 9.5) |
84.6 (82.4, 86.6) |
14.2 (12.3, 16.5) |
1.2 (0.7, 2.0) |
| Non-Hispanic Black |
Male |
93.1 (91.0, 94.7) |
6.9 (5.3, 9.0) |
86.8 (83.2, 89.8) |
12.5 (9.8, 15.8) |
0.7 (0.3, 1.6) |
| Female |
93.1 (91.9, 94.2) |
6.9 (5.8, 8.1) |
86.9 (84.6, 88.9) |
12.5 (10.6, 14.7) |
0.6 (0.2, 1.7) |
| Mexican American |
Male |
69.2 (66.9, 71.4) |
30.8 (28.6, 33.1) |
47.8 (44.0, 51.7) |
42.7 (38.2, 47.3) |
9.5 (7.4, 12.1) |
| Female |
70.8 (68.6, 73.0) |
29.2 (27.0, 31.4) |
50.8 (47.9, 53.8) |
39.9 (37.2, 42.7) |
9.2 (7.2, 11.7) |
| rs2066702 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
99.6 (99.0, 99.8) |
0.4 (0.2, 1.0) |
99.1 (97.9, 99.6) |
0.9 (0.4, 2.1) |
0.0 (NA) |
| Female |
99.7 (99.4, 99.8) |
0.3 (0.2, 0.6) |
99.3 (98.7, 99.6) |
0.7 (0.4, 1.3) |
0.0 (NA) |
| Non-Hispanic Black |
Male |
79.3 (76.3, 81.9) |
20.7 (18.1, 23.7) |
63.1 (58.3, 67.7) |
32.3 (28.2, 36.8) |
4.6 (3.1, 6.7) |
| Female |
80.7 (78.9, 82.3) |
19.3 (17.7, 21.1) |
64.7 (61.4, 67.9) |
31.9 (28.6, 35.4) |
3.4 (2.4, 4.7) |
| Mexican American |
Male |
99.0 (98.3, 99.4) |
1.0 (0.6, 1.7) |
98.0 (96.7, 98.7) |
2.0 (1.3, 3.3) |
0.0 (NA) |
| Female |
99.3 (98.8, 99.6) |
0.7 (0.4, 1.2) |
98.6 (97.7, 99.2) |
1.4 (0.8, 2.3) |
0.0 (NA) |
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