IL4R Allele and Genotype Frequencies
Available polymorphism(s)
|
rs number
|
Common Designations
Nucleotide change Amino acid
|
Genotyping method
|
|
rs1801275
|
Ex12+828A>G
|
Gln576Arg
|
TaqMan
|
|
rs1805015
|
Ex12+608T>C
|
Ser503Pro
|
TaqMan
|
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs1801275 |
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
79.2 (77.9, 80.5) |
20.8 (19.5, 22.1) |
<0.001 |
62.7 (60.8, 64.6) |
33.1 (31.5, 34.6) |
4.2 (3.3, 5.4) |
<0.001 |
0.73 |
| Non-Hispanic Black |
32.9 (30.7, 35.2) |
67.1 (64.8, 69.3) |
13.1 (11.4, 15.1) |
39.5 (37.1, 42.0) |
47.3 (44.2, 50.4) |
<0.01 |
| Mexican American |
71.4 (69.4, 73.2) |
28.6 (26.8, 30.6) |
51.4 (49.2, 53.6) |
39.8 (38.2, 41.5) |
8.7 (6.9, 10.9) |
0.58 |
| Total* |
73.2 (71.1, 75.2) |
26.8 (24.8, 28.9) |
|
55.9 (53.1, 58.6) |
34.7 (32.8, 36.5) |
9.5 (8.0, 11.2) |
|
|
| rs1805015 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
15.7 (14.2, 17.3) |
84.3 (82.7, 85.8) |
<0.001 |
2.4 (1.7, 3.3) |
26.7 (24.8, 28.7) |
71.0 (68.5, 73.3) |
<0.001 |
0.97 |
| Non-Hispanic Black |
36.7 (34.9, 38.7) |
63.3 (61.3, 65.1) |
12.7 (11.1, 14.6) |
48.0 (45.9, 50.1) |
39.3 (36.8, 41.8) |
0.36 |
| Mexican American |
15.7 (14.1, 17.4) |
84.3 (82.6, 85.9) |
2.9 (2.0, 4.1) |
25.7 (23.3, 28.2) |
71.4 (68.7, 74.1) |
0.51 |
| Total* |
17.8 (16.4, 19.3) |
82.2 (80.7, 83.6) |
|
3.5 (2.9, 4.4) |
28.6 (26.7, 30.5) |
67.9 (65.5, 70.2) |
|
|
* 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 |
| rs1801275 |
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
72.2 (68.6, 75.5) |
27.8 (24.5, 31.4) |
0.144 |
54.8 (49.5, 60.1) |
34.7 (30.1, 39.5) |
10.5 (8.2, 13.3) |
0.034 |
| 20-39 |
72.0 (69.2, 74.6) |
28.0 (25.4, 30.8) |
53.6 (49.6, 57.5) |
36.8 (33.8, 40.0) |
9.6 (7.8, 11.6) |
| 40-59 |
74.0 (71.0, 76.8) |
26.0 (23.2, 29.0) |
57.9 (54.2, 61.5) |
32.3 (30.0, 34.7) |
9.8 (7.6, 12.7) |
| >=60 |
75.2 (72.8, 77.4) |
24.8 (22.6, 27.2) |
58.3 (54.6, 62.0) |
33.6 (29.8, 37.8) |
8.0 (6.0, 10.6) |
| Total |
73.2 (71.1, 75.2) |
26.8 (24.8, 28.9) |
|
55.9 (53.1, 58.6) |
34.7 (32.8, 36.5) |
9.5 (8.0, 11.2) |
|
| rs1805015 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
18.8 (16.1, 21.8) |
81.2 (78.2, 83.9) |
0.411 |
4.6 (3.3, 6.3) |
28.5 (24.6, 32.7) |
67.0 (62.1, 71.5) |
0.314 |
| 20-39 |
17.4 (15.7, 19.2) |
82.6 (80.8, 84.3) |
3.1 (2.4, 3.8) |
28.7 (26.0, 31.5) |
68.3 (65.2, 71.2) |
| 40-59 |
18.5 (16.3, 21.0) |
81.5 (79.0, 83.7) |
4.0 (2.6, 6.2) |
29.0 (26.5, 31.8) |
67.0 (63.5, 70.3) |
| >=60 |
17.0 (15.4, 18.8) |
83.0 (81.2, 84.6) |
3.1 (2.3, 4.2) |
27.8 (25.1, 30.6) |
69.1 (66.1, 72.0) |
| Total |
17.8 (16.4, 19.3) |
82.2 (80.7, 83.6) |
|
3.5 (2.9, 4.4) |
28.6 (26.7, 30.5) |
67.9 (65.5, 70.2) |
|
* 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 |
| rs1801275 |
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
73.6 (70.7, 76.3) |
26.4 (23.7, 29.3) |
0.573 |
56.5 (52.4, 60.6) |
34.0 (31.0, 37.2) |
9.4 (7.8, 11.4) |
0.817 |
| Female |
72.9 (70.8, 74.8) |
27.1 (25.2, 29.2) |
55.2 (52.5, 58.0) |
35.2 (33.1, 37.5) |
9.5 (8.0, 11.3) |
| Total |
73.2 (71.1, 75.2) |
26.8 (24.8, 28.9) |
|
55.9 (53.1, 58.6) |
34.7 (32.8, 36.5) |
9.5 (8.0, 11.2) |
|
| rs1805015 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
18.1 (16.4, 20.0) |
81.9 (80.0, 83.6) |
0.381 |
3.3 (2.5, 4.3) |
29.6 (26.6, 32.8) |
67.1 (63.8, 70.2) |
0.391 |
| Female |
17.5 (16.1, 19.0) |
82.5 (81.0, 83.9) |
3.7 (2.9, 4.9) |
27.6 (26.0, 29.2) |
68.7 (66.5, 70.7) |
| Total |
17.8 (16.4, 19.3) |
82.2 (80.7, 83.6) |
|
3.5 (2.9, 4.4) |
28.6 (26.7, 30.5) |
67.9 (65.5, 70.2) |
|
* 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) |
| rs1801275 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
81.2 (76.5, 85.2) |
18.8 (14.8, 23.5) |
66.0 (59.0, 72.4) |
30.5 (25.0, 36.5) |
3.6 (1.5, 8.2) |
| 20-39 |
78.3 (75.8, 80.7) |
21.7 (19.3, 24.2) |
60.6 (56.2, 64.8) |
35.5 (31.6, 39.6) |
3.9 (2.9, 5.3) |
| 40-59 |
79.2 (76.1, 81.9) |
20.8 (18.1, 23.9) |
63.6 (60.2, 66.9) |
31.0 (29.0, 33.1) |
5.3 (3.2, 8.8) |
| >=60 |
79.7 (77.4, 81.9) |
20.3 (18.1, 22.6) |
63.2 (58.5, 67.7) |
33.1 (28.2, 38.3) |
3.7 (2.6, 5.4) |
| Non-Hispanic Black |
12-19 |
34.5 (30.4, 38.8) |
65.5 (61.2, 69.6) |
13.9 (10.3, 18.6) |
41.1 (35.1, 47.5) |
44.9 (38.9, 51.1) |
| 20-39 |
32.6 (29.8, 35.6) |
67.4 (64.4, 70.2) |
13.3 (10.6, 16.7) |
38.5 (35.5, 41.7) |
48.1 (44.6, 51.7) |
| 40-59 |
34.4 (30.1, 39.0) |
65.6 (61.0, 69.9) |
13.2 (9.4, 18.2) |
42.5 (37.7, 47.5) |
44.3 (38.7, 50.1) |
| >=60 |
29.1 (25.2, 33.3) |
70.9 (66.7, 74.8) |
11.4 (7.9, 16.3) |
35.3 (30.9, 39.9) |
53.3 (48.1, 58.4) |
| Mexican American |
12-19 |
72.9 (70.5, 75.2) |
27.1 (24.8, 29.5) |
53.1 (47.6, 58.5) |
39.7 (32.6, 47.3) |
7.2 (4.8, 10.8) |
| 20-39 |
69.7 (67.5, 71.8) |
30.3 (28.2, 32.5) |
48.7 (46.3, 51.0) |
42.1 (40.0, 44.1) |
9.3 (7.1, 12.0) |
| 40-59 |
73.2 (69.3, 76.8) |
26.8 (23.2, 30.7) |
55.5 (49.9, 60.9) |
35.5 (31.1, 40.1) |
9.0 (6.5, 12.4) |
| >=60 |
72.7 (68.6, 76.5) |
27.3 (23.5, 31.4) |
53.7 (48.7, 58.6) |
38.1 (33.1, 43.4) |
8.2 (4.7, 14.0) |
| rs1805015 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
13.6 (9.4, 19.4) |
86.4 (80.6, 90.6) |
2.7 (1.1, 6.5) |
21.8 (15.9, 29.2) |
75.4 (66.5, 82.6) |
| 20-39 |
15.3 (13.3, 17.6) |
84.7 (82.4, 86.7) |
1.6 (1.0, 2.8) |
27.3 (24.3, 30.5) |
71.1 (67.3, 74.6) |
| 40-59 |
17.3 (14.8, 20.1) |
82.7 (79.9, 85.2) |
3.5 (1.9, 6.3) |
27.6 (24.8, 30.7) |
68.9 (65.1, 72.5) |
| >=60 |
15.5 (13.9, 17.2) |
84.5 (82.8, 86.1) |
2.0 (1.3, 3.0) |
27.0 (24.1, 30.2) |
71.0 (67.8, 74.0) |
| Non-Hispanic Black |
12-19 |
39.7 (36.1, 43.6) |
60.3 (56.4, 63.9) |
13.5 (11.1, 16.4) |
52.4 (47.6, 57.2) |
34.0 (28.6, 40.0) |
| 20-39 |
35.9 (33.1, 38.8) |
64.1 (61.2, 66.9) |
12.6 (10.2, 15.3) |
46.7 (42.2, 51.2) |
40.8 (36.3, 45.3) |
| 40-59 |
35.6 (32.4, 38.9) |
64.4 (61.1, 67.6) |
10.3 (8.0, 13.2) |
50.5 (46.5, 54.5) |
39.2 (34.5, 44.1) |
| >=60 |
37.4 (33.8, 41.2) |
62.6 (58.8, 66.2) |
16.6 (13.1, 20.7) |
41.7 (35.5, 48.1) |
41.7 (36.1, 47.6) |
| Mexican American |
12-19 |
15.6 (13.2, 18.4) |
84.4 (81.6, 86.8) |
2.3 (1.3, 3.9) |
26.7 (21.4, 32.8) |
71.0 (65.5, 76.0) |
| 20-39 |
16.1 (13.6, 19.1) |
83.9 (80.9, 86.4) |
3.0 (1.8, 5.0) |
26.3 (22.9, 29.9) |
70.7 (66.2, 74.9) |
| 40-59 |
14.6 (12.7, 16.8) |
85.4 (83.2, 87.3) |
2.5 (1.4, 4.5) |
24.3 (20.4, 28.6) |
73.2 (69.2, 76.9) |
| >=60 |
16.1 (13.2, 19.4) |
83.9 (80.6, 86.8) |
4.4 (1.9, 9.6) |
23.4 (19.7, 27.6) |
72.2 (68.3, 75.8) |
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By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs1801275 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
79.3 (77.2, 81.3) |
20.7 (18.7, 22.8) |
63.1 (59.3, 66.6) |
32.6 (29.2, 36.1) |
4.4 (3.4, 5.6) |
| Female |
79.1 (77.3, 80.9) |
20.9 (19.1, 22.7) |
62.4 (59.5, 65.1) |
33.5 (31.2, 35.9) |
4.1 (3.0, 5.5) |
| Non-Hispanic Black |
Male |
31.1 (28.2, 34.1) |
68.9 (65.9, 71.8) |
11.6 (9.5, 14.2) |
38.9 (34.3, 43.7) |
49.5 (44.7, 54.3) |
| Female |
34.4 (31.7, 37.3) |
65.6 (62.7, 68.3) |
14.4 (12.0, 17.2) |
40.1 (37.0, 43.3) |
45.5 (41.8, 49.3) |
| Mexican American |
Male |
70.8 (67.9, 73.4) |
29.2 (26.6, 32.1) |
50.4 (46.9, 53.8) |
40.8 (37.9, 43.8) |
8.8 (6.4, 12.0) |
| Female |
72.0 (68.4, 75.3) |
28.0 (24.7, 31.6) |
52.6 (47.5, 57.6) |
38.8 (35.1, 42.7) |
8.6 (6.6, 11.2) |
| rs1805015 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
15.9 (14.3, 17.6) |
84.1 (82.4, 85.7) |
2.0 (1.2, 3.3) |
27.7 (24.8, 30.9) |
70.2 (67.1, 73.2) |
| Female |
15.5 (13.8, 17.4) |
84.5 (82.6, 86.2) |
2.7 (1.7, 4.2) |
25.7 (23.7, 27.7) |
71.6 (68.9, 74.2) |
| Non-Hispanic Black |
Male |
39.6 (37.0, 42.4) |
60.4 (57.6, 63.0) |
14.8 (12.5, 17.4) |
49.7 (45.2, 54.2) |
35.5 (31.3, 39.9) |
| Female |
34.3 (31.8, 36.9) |
65.7 (63.1, 68.2) |
11.0 (8.8, 13.7) |
46.6 (42.2, 51.0) |
42.4 (38.4, 46.5) |
| Mexican American |
Male |
15.8 (13.9, 17.8) |
84.2 (82.2, 86.1) |
2.5 (1.8, 3.3) |
26.6 (23.7, 29.7) |
70.9 (67.4, 74.2) |
| Female |
15.6 (13.0, 18.6) |
84.4 (81.4, 87.0) |
3.3 (1.7, 6.1) |
24.7 (21.5, 28.3) |
72.0 (67.7, 76.0) |
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