VDR Allele and Genotype Frequencies
Available polymorphism(s)
|
rs number
|
Common Designations |
Genotyping method
|
| Nucleotide change |
Amino acid |
|
rs2239185
|
IVS8-3968C>T
|
|
TaqMan
|
|
rs731236
|
Ex11+32T>C
|
Ile352Ile
(TaqI variant)
|
MGB Eclipse
|
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs2239185 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
47.8 (45.2, 50.5) |
52.2 (49.5, 54.8) |
<0.001 |
25.5 (22.0, 29.3) |
44.7 (41.5, 48.0) |
29.8 (27.4, 32.4) |
<0.001 |
<0.01 |
| Non-Hispanic Black |
42.9 (41.2, 44.6) |
57.1 (55.4, 58.8) |
18.2 (16.3, 20.3) |
49.4 (46.3, 52.5) |
32.4 (29.8, 35.0) |
0.98 |
| Mexican American |
58.2 (55.1, 61.3) |
41.8 (38.7, 44.9) |
34.1 (31.0, 37.4) |
48.2 (46.0, 50.4) |
17.7 (14.6, 21.3) |
0.85 |
| Total* |
49.3 (47.4, 51.1) |
50.7 (48.9, 52.6) |
|
26.5 (23.8, 29.3) |
45.6 (42.8, 48.4) |
27.9 (26.2, 29.8) |
|
|
| rs731236 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
38.1 (36.0, 40.3) |
61.9 (59.7, 64.0) |
<0.001 |
15.6 (14.1, 17.1) |
45.1 (42.5, 47.7) |
39.4 (36.2, 42.7) |
<0.001 |
0.12 |
| Non-Hispanic Black |
28.2 (26.8, 29.6) |
71.8 (70.4, 73.2) |
7.2 (6.2, 8.4) |
41.9 (39.7, 44.1) |
50.8 (48.6, 53.1) |
0.26 |
| Mexican American |
23.8 (21.6, 26.1) |
76.2 (73.9, 78.4) |
4.9 (3.7, 6.5) |
37.8 (35.3, 40.3) |
57.3 (53.9, 60.6) |
0.22 |
| Total* |
34.5 (32.9, 36.0) |
65.5 (64.0, 67.1) |
|
13.0 (11.8, 14.2) |
43.0 (40.9, 45.1) |
44.1 (41.7, 46.4) |
|
|
* 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.
Top of Page
By Age
| Variant |
Age (years) |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs2239185 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
47.7 (41.6, 53.8) |
52.3 (46.2, 58.4) |
0.152 |
25.3 (18.9, 33.1) |
44.7 (40.1, 49.4) |
30.0 (24.3, 36.2) |
0.090 |
| 20-39 |
51.4 (49.5, 53.4) |
48.6 (46.6, 50.5) |
28.1 (25.1, 31.3) |
46.6 (42.7, 50.5) |
25.3 (23.0, 27.8) |
| 40-59 |
48.3 (45.5, 51.1) |
51.7 (48.9, 54.5) |
26.2 (22.5, 30.3) |
44.1 (39.2, 49.1) |
29.7 (26.2, 33.3) |
| >=60 |
47.5 (44.9, 50.1) |
52.5 (49.9, 55.1) |
24.3 (21.2, 27.7) |
46.4 (42.9, 49.9) |
29.3 (26.5, 32.3) |
| Total |
49.3 (47.4, 51.1) |
50.7 (48.9, 52.6) |
|
26.5 (23.8, 29.3) |
45.6 (42.8, 48.4) |
27.9 (26.2, 29.8) |
|
| rs731236 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
32.9 (27.6, 38.7) |
67.1 (61.3, 72.4) |
0.128 |
12.0 (9.0, 15.8) |
41.9 (35.2, 48.8) |
46.1 (37.7, 54.8) |
0.089 |
| 20-39 |
32.8 (31.2, 34.6) |
67.2 (65.4, 68.8) |
11.7 (10.1, 13.4) |
42.3 (39.4, 45.3) |
46.0 (43.3, 48.7) |
| 40-59 |
36.1 (33.7, 38.5) |
63.9 (61.5, 66.3) |
14.7 (12.0, 18.0) |
42.7 (38.8, 46.7) |
42.5 (39.3, 45.8) |
| >=60 |
36.4 (34.0, 38.9) |
63.6 (61.1, 66.0) |
13.7 (11.1, 16.7) |
45.5 (42.3, 48.7) |
40.8 (37.8, 43.9) |
| Total |
34.5 (32.9, 36.0) |
65.5 (64.0, 67.1) |
|
13.0 (11.8, 14.2) |
43.0 (40.9, 45.1) |
44.1 (41.7, 46.4) |
|
* Includes all participants, regardless of race/ethnicity.
Top of Page
\
By Sex
| Variant |
Sex |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs2239185 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
49.6 (47.1, 52.1) |
50.4 (47.9, 52.9) |
0.597 |
26.9 (23.7, 30.4) |
45.4 (41.9, 48.9) |
27.7 (25.1, 30.5) |
0.830 |
| Female |
48.9 (46.9, 51.0) |
51.1 (49.0, 53.1) |
26.0 (23.2, 29.0) |
45.8 (42.7, 48.9) |
28.2 (26.0, 30.5) |
| Total |
49.3 (47.4, 51.1) |
50.7 (48.9, 52.6) |
|
26.5 (23.8, 29.3) |
45.6 (42.8, 48.4) |
27.9 (26.2, 29.8) |
|
| rs731236 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
34.2 (31.9, 36.5) |
65.8 (63.5, 68.1) |
0.625 |
12.7 (11.0, 14.5) |
43.0 (40.3, 45.8) |
44.3 (41.0, 47.6) |
0.789 |
| Female |
34.7 (33.2, 36.2) |
65.3 (63.8, 66.8) |
13.3 (12.1, 14.5) |
42.9 (40.7, 45.2) |
43.8 (41.5, 46.2) |
| Total |
34.5 (32.9, 36.0) |
65.5 (64.0, 67.1) |
|
13.0 (11.8, 14.2) |
43.0 (40.9, 45.1) |
44.1 (41.7, 46.4) |
|
* Includes all participants, regardless of race/ethnicity.
Top of Page
By Race/Ethnicity and Age
| Variant |
Race-ethnicity |
Age (years) |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs2239185 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
45.6 (37.0, 54.4) |
54.4 (45.6, 63.0) |
24.7 (16.2, 35.7) |
41.7 (35.2, 48.6) |
33.6 (25.2, 43.1) |
| 20-39 |
50.0 (47.2, 52.8) |
50.0 (47.2, 52.8) |
26.8 (23.0, 31.0) |
46.4 (41.7, 51.0) |
26.8 (23.8, 30.1) |
| 40-59 |
47.3 (43.6, 51.0) |
52.7 (49.0, 56.4) |
25.6 (21.0, 30.8) |
43.4 (37.8, 49.2) |
31.0 (26.8, 35.5) |
| >=60 |
46.3 (42.9, 49.6) |
53.7 (50.4, 57.1) |
23.6 (19.9, 27.8) |
45.3 (41.9, 48.8) |
31.1 (27.7, 34.7) |
| Non-Hispanic Black |
12-19 |
41.2 (37.4, 45.0) |
58.8 (55.0, 62.6) |
16.7 (13.3, 20.7) |
49.0 (44.8, 53.1) |
34.4 (29.6, 39.4) |
| 20-39 |
43.4 (40.7, 46.1) |
56.6 (53.9, 59.3) |
18.3 (15.0, 22.1) |
50.2 (46.2, 54.2) |
31.5 (28.4, 34.8) |
| 40-59 |
41.0 (38.0, 44.2) |
59.0 (55.8, 62.0) |
16.2 (13.5, 19.4) |
49.5 (42.8, 56.3) |
34.2 (28.7, 40.2) |
| >=60 |
47.2 (43.2, 51.3) |
52.8 (48.7, 56.8) |
23.6 (18.7, 29.2) |
47.3 (40.3, 54.4) |
29.1 (23.9, 35.0) |
| Mexican American |
12-19 |
56.9 (50.8, 62.8) |
43.1 (37.2, 49.2) |
33.3 (25.6, 42.1) |
47.1 (40.9, 53.3) |
19.6 (15.3, 24.8) |
| 20-39 |
57.9 (55.6, 60.1) |
42.1 (39.9, 44.4) |
32.6 (29.3, 36.1) |
50.5 (46.4, 54.6) |
16.9 (14.4, 19.7) |
| 40-59 |
60.6 (54.8, 66.2) |
39.4 (33.8, 45.2) |
38.6 (32.2, 45.4) |
44.1 (38.3, 50.1) |
17.3 (11.9, 24.5) |
| >=60 |
57.3 (50.7, 63.7) |
42.7 (36.3, 49.3) |
33.7 (26.6, 41.6) |
47.2 (40.2, 54.3) |
19.1 (12.8, 27.5) |
| rs731236 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
38.2 (30.5, 46.6) |
61.8 (53.4, 69.5) |
16.7 (11.5, 23.6) |
43.1 (35.8, 50.7) |
40.2 (29.8, 51.6) |
| 20-39 |
36.6 (34.3, 38.9) |
63.4 (61.1, 65.7) |
14.3 (12.3, 16.6) |
44.5 (40.3, 48.9) |
41.1 (37.3, 45.1) |
| 40-59 |
39.3 (36.5, 42.1) |
60.7 (57.9, 63.5) |
16.8 (13.9, 20.2) |
44.9 (39.8, 50.0) |
38.3 (34.1, 42.7) |
| >=60 |
39.0 (36.0, 42.2) |
61.0 (57.8, 64.0) |
15.4 (12.2, 19.2) |
47.2 (43.4, 51.1) |
37.3 (33.6, 41.2) |
| Non-Hispanic Black |
12-19 |
25.8 (22.9, 29.0) |
74.2 (71.0, 77.1) |
4.4 (2.4, 7.8) |
43.0 (40.0, 46.0) |
52.7 (48.6, 56.7) |
| 20-39 |
28.6 (26.4, 30.8) |
71.4 (69.2, 73.6) |
7.8 (6.4, 9.4) |
41.6 (38.6, 44.6) |
50.6 (47.2, 54.1) |
| 40-59 |
29.7 (26.6, 33.0) |
70.3 (67.0, 73.4) |
8.1 (6.3, 10.5) |
43.1 (37.7, 48.7) |
48.7 (43.2, 54.3) |
| >=60 |
27.4 (24.1, 31.0) |
72.6 (69.0, 75.9) |
7.8 (5.6, 10.6) |
39.3 (33.8, 45.2) |
52.9 (47.0, 58.7) |
| Mexican American |
12-19 |
23.5 (20.4, 27.0) |
76.5 (73.0, 79.6) |
5.2 (3.3, 8.1) |
36.7 (32.6, 41.1) |
58.1 (53.1, 63.0) |
| 20-39 |
24.1 (21.4, 27.1) |
75.9 (72.9, 78.6) |
4.7 (3.3, 6.6) |
38.9 (35.4, 42.4) |
56.5 (51.9, 60.9) |
| 40-59 |
23.1 (19.8, 26.8) |
76.9 (73.2, 80.2) |
4.4 (2.3, 8.3) |
37.4 (32.4, 42.6) |
58.2 (52.7, 63.5) |
| >=60 |
24.3 (20.1, 29.1) |
75.7 (70.9, 79.9) |
7.1 (4.2, 11.7) |
34.5 (29.6, 39.6) |
58.4 (52.0, 64.6) |
By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs2239185 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
48.2 (45.0, 51.5) |
51.8 (48.5, 55.0) |
26.0 (21.8, 30.6) |
44.5 (40.2, 48.9) |
29.5 (26.3, 33.0) |
| Female |
47.5 (44.5, 50.5) |
52.5 (49.5, 55.5) |
25.0 (21.3, 29.2) |
44.9 (41.3, 48.6) |
30.1 (27.1, 33.1) |
| Non-Hispanic Black |
Male |
42.4 (40.5, 44.3) |
57.6 (55.7, 59.5) |
16.4 (14.9, 18.0) |
52.0 (47.7, 56.3) |
31.6 (27.9, 35.5) |
| Female |
43.3 (40.7, 46.0) |
56.7 (54.0, 59.3) |
19.7 (16.4, 23.5) |
47.2 (43.8, 50.7) |
33.1 (30.5, 35.7) |
| Mexican American |
Male |
58.2 (54.7, 61.6) |
41.8 (38.4, 45.3) |
34.5 (30.9, 38.4) |
47.3 (44.4, 50.3) |
18.1 (14.8, 22.1) |
| Female |
58.2 (54.6, 61.7) |
41.8 (38.3, 45.4) |
33.7 (29.8, 37.8) |
49.1 (46.2, 52.0) |
17.2 (13.9, 21.2) |
| rs731236 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
37.5 (34.7, 40.4) |
62.5 (59.6, 65.3) |
15.2 (13.2, 17.3) |
44.6 (41.1, 48.2) |
40.2 (36.0, 44.6) |
| Female |
38.7 (36.5, 41.0) |
61.3 (59.0, 63.5) |
16.0 (14.3, 17.7) |
45.5 (42.5, 48.5) |
38.5 (35.2, 42.0) |
| Non-Hispanic Black |
Male |
28.6 (26.4, 30.9) |
71.4 (69.1, 73.6) |
7.2 (5.2, 9.9) |
42.8 (39.7, 46.1) |
50.0 (46.8, 53.1) |
| Female |
27.8 (25.7, 30.0) |
72.2 (70.0, 74.3) |
7.3 (6.0, 8.8) |
41.1 (37.8, 44.6) |
51.6 (48.0, 55.2) |
| Mexican American |
Male |
23.5 (21.0, 26.2) |
76.5 (73.8, 79.0) |
4.8 (3.4, 6.7) |
37.5 (34.3, 40.9) |
57.7 (53.6, 61.7) |
| Female |
24.1 (21.6, 26.7) |
75.9 (73.3, 78.4) |
5.1 (3.7, 6.9) |
38.0 (35.0, 41.2) |
56.9 (53.0, 60.7) |
Top of Page