TGFB1/B9D2 Allele and Genotype Frequencies
Available polymorphism(s)
|
rs number
|
Common Designations
Nucleotide change Amino acid
|
Genotyping method
|
|
rs1800468¶
|
Ex4-262G>A
-800G>A of TGFB1
|
|
TaqMan
|
|
rs1800469¶
|
308bp 3′ of STP C>T
-509C>T of TGFB1
|
|
TaqMan
|
|
rs1982073
|
Ex1-327C>T
|
Pro10Leu
|
TaqMan
|
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs1800468¶
|
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
7.6 (6.7, 8.7) |
92.4 (91.3, 93.3) |
<0.001 |
0.5 (0.2, 1.1) |
14.3 (12.6, 16.2) |
85.2 (83.2, 87.0) |
<0.001 |
0.90 |
| Non-Hispanic Black |
2.8 (2.1, 3.7) |
97.2 (96.3, 97.9) |
0.1 (0.0, 0.5) |
5.4 (4.0, 7.1) |
94.5 (92.7, 95.9) |
0.67 |
| Mexican American |
4.6 (4.1, 5.3) |
95.4 (94.7, 95.9) |
0.2 (0.1, 0.9) |
8.8 (7.8, 10.0) |
90.9 (89.8, 92.0) |
0.99 |
| Total* |
6.7 (6.0, 7.5) |
93.3 (92.5, 94.0) |
|
0.4 (0.2, 0.8) |
12.6 (11.3, 14.0) |
87.0 (85.5, 88.4) |
|
|
| rs1800469¶
|
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
68.6 (66.8, 70.3) |
31.4 (29.7, 33.2) |
<0.001 |
47.6 (45.1, 50.1) |
42.0 (39.4, 44.6) |
10.5 (8.7, 12.5) |
<0.001 |
0.93 |
| Non-Hispanic Black |
76.2 (74.4, 77.9) |
23.8 (22.1, 25.6) |
58.1 (55.2, 60.9) |
36.3 (33.7, 39.0) |
5.6 (4.5, 7.0) |
0.54 |
| Mexican American |
55.2 (53.1, 57.4) |
44.8 (42.6, 46.9) |
31.5 (28.7, 34.6) |
47.4 (44.9, 49.9) |
21.1 (19.2, 23.0) |
0.18 |
| Total* |
67.9 (66.4, 69.3) |
32.1 (30.7, 33.6) |
|
47.1 (45.0, 49.1) |
41.7 (39.7, 43.7) |
11.2 (9.9, 12.8) |
|
|
| rs1982073 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
38.5 (36.8, 40.2) |
61.5 (59.8, 63.2) |
<0.001 |
16.3 (14.5, 18.3) |
44.4 (42.4, 46.4) |
39.3 (37.2, 41.5) |
<0.001 |
0.05 |
| Non-Hispanic Black |
44.0 (42.3, 45.7) |
56.0 (54.3, 57.7) |
19.9 (18.2, 21.8) |
48.1 (45.6, 50.6) |
32.0 (29.7, 34.4) |
0.34 |
| Mexican American |
50.3 (48.4, 52.1) |
49.7 (47.9, 51.6) |
26.8 (24.9, 28.7) |
47.0 (45.0, 49.0) |
26.2 (24.0, 28.6) |
0.11 |
| Total* |
40.4 (38.9, 41.9) |
59.6 (58.1, 61.1) |
|
17.8 (16.4, 19.3) |
45.2 (43.8, 46.6) |
37.0 (35.2, 38.8) |
|
|
* 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.
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
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By Age
| Variant |
Age (years) |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs1800468¶
|
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
5.3 (3.8, 7.4) |
94.7 (92.6, 96.2) |
0.322 |
0.2 (0.0, 2.2) |
10.2 (7.0, 14.5) |
89.6 (85.5, 92.7) |
0.720 |
| 20-39 |
7.3 (5.8, 9.2) |
92.7 (90.8, 94.2) |
0.4 (0.1, 1.2) |
13.8 (11.2, 16.9) |
85.7 (82.4, 88.5) |
| 40-59 |
6.2 (4.8, 8.1) |
93.8 (91.9, 95.2) |
0.4 (0.1, 1.9) |
11.7 (9.2, 14.7) |
87.9 (84.6, 90.6) |
| >=60 |
7.0 (6.1, 8.1) |
93.0 (91.9, 93.9) |
0.4 (0.2, 1.0) |
13.1 (11.4, 15.1) |
86.4 (84.4, 88.2) |
| Total |
6.7 (6.0, 7.5) |
93.3 (92.5, 94.0) |
|
0.4 (0.2, 0.8) |
12.6 (11.3, 14.0) |
87.0 (85.5, 88.4) |
|
| rs1800469¶
|
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
69.8 (66.6, 72.9) |
30.2 (27.1, 33.4) |
0.344 |
49.9 (45.2, 54.6) |
39.9 (34.0, 46.1) |
10.2 (6.8, 15.0) |
0.283 |
| 20-39 |
67.1 (64.5, 69.7) |
32.9 (30.3, 35.5) |
46.7 (43.0, 50.4) |
40.9 (37.4, 44.5) |
12.4 (10.1, 15.2) |
| 40-59 |
68.5 (66.5, 70.5) |
31.5 (29.5, 33.5) |
47.8 (43.9, 51.7) |
41.5 (37.2, 45.9) |
10.8 (9.3, 12.4) |
| >=60 |
67.2 (65.5, 68.9) |
32.8 (31.1, 34.5) |
44.8 (42.1, 47.5) |
44.9 (42.1, 47.7) |
10.3 (8.9, 11.9) |
| Total |
67.9 (66.4, 69.3) |
32.1 (30.7, 33.6) |
|
47.1 (45.0, 49.1) |
41.7 (39.7, 43.7) |
11.2 (9.9, 12.8) |
|
| rs1982073 |
|
C |
T |
|
CC |
CT |
TT |
|
|
|
|
0.795 |
|
|
|
|
| 12-19 |
39.1 (34.9, 43.4) |
60.9 (56.6, 65.1) |
17.6 (12.8, 23.7) |
42.9 (37.3, 48.7) |
39.5 (34.7, 44.4) |
0.783 |
| 20-39 |
40.7 (38.2, 43.2) |
59.3 (56.8, 61.8) |
17.6 (15.3, 20.2) |
46.1 (42.6, 49.6) |
36.3 (32.8, 40.0) |
| 40-59 |
40.2 (37.9, 42.6) |
59.8 (57.4, 62.1) |
17.9 (16.1, 19.9) |
44.6 (40.8, 48.5) |
37.5 (33.7, 41.4) |
| >=60 |
41.0 (39.1, 43.0) |
59.0 (57.0, 60.9) |
18.0 (15.8, 20.5) |
46.0 (43.7, 48.3) |
36.0 (33.8, 38.2) |
| Total |
40.4 (38.9, 41.9) |
59.6 (58.1, 61.1) |
|
17.8 (16.4, 19.3) |
45.2 (43.8, 46.6) |
37.0 (35.2, 38.8) |
|
* Includes all participants, regardless of race/ethnicity.
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
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By Sex
| Variant |
Sex |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs1800468¶
|
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
6.8 (5.6, 8.3) |
93.2 (91.7, 94.4) |
0.691 |
0.3 (0.1, 1.2) |
13.0 (10.8, 15.5) |
86.7 (84.0, 89.0) |
0.740 |
| Female |
6.6 (5.9, 7.3) |
93.4 (92.7, 94.1) |
0.5 (0.2, 1.1) |
12.2 (10.9, 13.6) |
87.3 (85.9, 88.6) |
| Total |
6.7 (6.0, 7.5) |
93.3 (92.5, 94.0) |
|
0.4 (0.2, 0.8) |
12.6 (11.3, 14.0) |
87.0 (85.5, 88.4) |
|
| rs1800469¶
|
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
67.7 (64.8, 70.4) |
32.3 (29.6, 35.2) |
0.777 |
47.1 (43.6, 50.6) |
41.2 (38.5, 43.8) |
11.8 (9.5, 14.5) |
0.671 |
| Female |
68.1 (66.4, 69.8) |
31.9 (30.2, 33.6) |
47.0 (44.4, 49.7) |
42.2 (39.5, 45.0) |
10.8 (9.4, 12.3) |
| Total |
67.9 (66.4, 69.3) |
32.1 (30.7, 33.6) |
|
47.1 (45.0, 49.1) |
41.7 (39.7, 43.7) |
11.2 (9.9, 12.8) |
|
| rs1982073 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
40.2 (37.3, 43.2) |
59.8 (56.8, 62.7) |
0.821 |
18.3 (15.9, 21.1) |
43.7 (40.6, 46.9) |
37.9 (34.0, 42.0) |
0.472 |
| Female |
40.6 (39.3, 41.9) |
59.4 (58.1, 60.7) |
17.3 (15.8, 18.9) |
46.6 (44.3, 48.9) |
36.1 (34.3, 38.0) |
| Total |
40.4 (38.9, 41.9) |
59.6 (58.1, 61.1) |
|
17.8 (16.4, 19.3) |
45.2 (43.8, 46.6) |
37.0 (35.2, 38.8) |
|
* Includes all participants, regardless of race/ethnicity.
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
Top of Page
By Race/Ethnicity and Age
| Variant |
Race-ethnicity |
Age (years) |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs1800468¶
|
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
6.6 (4.4, 9.7) |
93.4 (90.3, 95.6) |
0.4 (0.0, 3.5) |
12.4 (8.0, 18.9) |
87.2 (81.0, 91.6) |
| 20-39 |
8.5 (6.5, 11.0) |
91.5 (89.0, 93.5) |
0.5 (0.1, 1.7) |
15.9 (12.5, 20.1) |
83.6 (79.1, 87.3) |
| 40-59 |
7.0 (5.2, 9.5) |
93.0 (90.5, 94.8) |
0.5 (0.1, 2.6) |
13.1 (9.8, 17.3) |
86.4 (81.9, 89.9) |
| >=60 |
7.7 (6.7, 8.8) |
92.3 (91.2, 93.3) |
0.5 (0.2, 1.2) |
14.2 (12.3, 16.4) |
85.2 (83.1, 87.1) |
| Non-Hispanic Black |
12-19 |
2.5 (1.7, 3.5) |
97.5 (96.5, 98.3) |
0.0 (NA) |
5.0 (3.5, 7.0) |
95.0 (93.0, 96.5) |
| 20-39 |
3.0 (2.1, 4.2) |
97.0 (95.8, 97.9) |
0.2 (0.1, 1.0) |
5.5 (3.9, 7.9) |
94.2 (91.9, 95.9) |
| 40-59 |
2.8 (1.8, 4.5) |
97.2 (95.5, 98.2) |
0.0 (NA) |
5.6 (3.5, 8.9) |
94.4 (91.1, 96.5) |
| >=60 |
2.5 (1.5, 4.2) |
97.5 (95.8, 98.5) |
0.0 (NA) |
4.9 (2.9, 8.3) |
95.1 (91.7, 97.1) |
| Mexican American |
12-19 |
3.8 (2.6, 5.6) |
96.2 (94.4, 97.4) |
0.0 (NA) |
7.6 (5.1, 11.1) |
92.4 (88.9, 94.9) |
| 20-39 |
4.7 (3.7, 5.9) |
95.3 (94.1, 96.3) |
0.2 (0.1, 1.1) |
8.8 (7.2, 10.7) |
90.9 (88.8, 92.7) |
| 40-59 |
5.2 (3.3, 8.1) |
94.8 (91.9, 96.7) |
0.6 (0.1, 4.3) |
9.3 (6.7, 12.9) |
90.1 (85.7, 93.3) |
| >=60 |
5.1 (3.5, 7.4) |
94.9 (92.6, 96.5) |
0.0 (NA) |
10.2 (7.0, 14.7) |
89.8 (85.3, 93.0) |
| rs1800469¶
|
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
69.9 (65.4, 74.1) |
30.1 (25.9, 34.6) |
50.2 (42.9, 57.5) |
39.4 (30.2, 49.5) |
10.4 (5.9, 17.5) |
| 20-39 |
68.2 (65.0, 71.2) |
31.8 (28.8, 35.0) |
47.3 (42.3, 52.4) |
41.7 (36.7, 46.9) |
10.9 (8.5, 13.9) |
| 40-59 |
69.5 (66.7, 72.1) |
30.5 (27.9, 33.3) |
49.6 (44.6, 54.6) |
39.8 (34.7, 45.2) |
10.6 (8.8, 12.8) |
| >=60 |
67.1 (65.1, 69.1) |
32.9 (30.9, 34.9) |
43.9 (40.9, 46.9) |
46.6 (43.6, 49.6) |
9.6 (7.8, 11.7) |
| Non-Hispanic Black |
12-19 |
78.8 (75.5, 81.8) |
21.2 (18.2, 24.5) |
61.5 (55.7, 67.0) |
34.6 (28.8, 40.9) |
3.9 (2.0, 7.2) |
| 20-39 |
77.2 (74.8, 79.5) |
22.8 (20.5, 25.2) |
59.6 (55.9, 63.1) |
35.3 (32.1, 38.6) |
5.1 (3.6, 7.2) |
| 40-59 |
73.1 (70.4, 75.6) |
26.9 (24.4, 29.6) |
52.8 (49.5, 56.1) |
40.5 (37.5, 43.6) |
6.6 (4.4, 10.0) |
| >=60 |
75.3 (71.2, 79.0) |
24.7 (21.0, 28.8) |
58.2 (51.1, 65.0) |
34.1 (27.3, 41.7) |
7.7 (5.2, 11.1) |
| Mexican American |
12-19 |
54.1 (50.7, 57.5) |
45.9 (42.5, 49.3) |
29.0 (24.0, 34.6) |
50.1 (42.4, 57.8) |
20.8 (16.3, 26.3) |
| 20-39 |
54.3 (51.1, 57.4) |
45.7 (42.6, 48.9) |
30.8 (26.5, 35.3) |
47.0 (43.5, 50.5) |
22.3 (19.7, 25.0) |
| 40-59 |
58.6 (54.5, 62.6) |
41.4 (37.4, 45.5) |
35.3 (29.3, 41.8) |
46.7 (41.5, 52.0) |
18.0 (15.5, 20.9) |
| >=60 |
55.0 (50.4, 59.6) |
45.0 (40.4, 49.6) |
32.6 (27.7, 38.0) |
44.8 (38.5, 51.3) |
22.6 (17.0, 29.2) |
| rs1982073 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
37.0 (31.8, 42.4) |
63.0 (57.6, 68.2) |
17.6 (11.2, 26.6) |
38.7 (29.8, 48.3) |
43.7 (37.3, 50.3) |
| 20-39 |
37.9 (34.5, 41.4) |
62.1 (58.6, 65.5) |
14.6 (11.5, 18.3) |
46.5 (42.0, 51.1) |
38.9 (34.2, 43.8) |
| 40-59 |
38.6 (35.5, 41.7) |
61.4 (58.3, 64.5) |
17.3 (15.3, 19.6) |
42.5 (37.7, 47.4) |
40.2 (35.2, 45.4) |
| >=60 |
40.2 (38.0, 42.4) |
59.8 (57.6, 62.0) |
16.9 (14.2, 20.0) |
46.5 (43.5, 49.6) |
36.6 (34.2, 39.0) |
| Non-Hispanic Black |
12-19 |
38.2 (35.0, 41.5) |
61.8 (58.5, 65.0) |
14.6 (11.6, 18.3) |
47.1 (41.5, 52.7) |
38.3 (33.4, 43.4) |
| 20-39 |
44.8 (42.3, 47.3) |
55.2 (52.7, 57.7) |
21.2 (18.4, 24.3) |
47.2 (42.8, 51.6) |
31.6 (28.0, 35.5) |
| 40-59 |
46.0 (43.0, 49.0) |
54.0 (51.0, 57.0) |
20.0 (16.6, 23.8) |
52.1 (47.6, 56.6) |
27.9 (24.2, 31.9) |
| >=60 |
45.4 (41.0, 49.9) |
54.6 (50.1, 59.0) |
22.9 (17.4, 29.4) |
45.1 (37.0, 53.4) |
32.0 (26.2, 38.5) |
| Mexican American |
12-19 |
51.6 (48.1, 54.9) |
48.4 (45.1, 51.9) |
25.5 (21.1, 30.4) |
52.1 (46.5, 57.7) |
22.4 (18.5, 26.8) |
| 20-39 |
51.1 (48.6, 53.6) |
48.9 (46.4, 51.4) |
28.1 (25.3, 31.1) |
46.0 (42.6, 49.4) |
25.9 (22.9, 29.2) |
| 40-59 |
46.7 (44.0, 49.3) |
53.3 (50.7, 56.0) |
24.6 (21.4, 28.2) |
44.1 (37.8, 50.6) |
31.3 (26.7, 36.3) |
| >=60 |
51.5 (46.7, 56.2) |
48.5 (43.8, 53.3) |
27.5 (21.5, 34.5) |
47.9 (40.8, 55.1) |
24.6 (19.7, 30.2) |
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs1800468¶
|
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
7.8 (6.4, 9.6) |
92.2 (90.4, 93.6) |
0.4 (0.1, 1.5) |
14.9 (12.2, 18.0) |
84.7 (81.4, 87.5) |
| Female |
7.5 (6.6, 8.4) |
92.5 (91.6, 93.4) |
0.6 (0.2, 1.4) |
13.8 (12.1, 15.6) |
85.6 (83.9, 87.2) |
| Non-Hispanic Black |
Male |
2.8 (1.8, 4.3) |
97.2 (95.7, 98.2) |
0.0 (NA) |
5.6 (3.6, 8.6) |
94.4 (91.4, 96.4) |
| Female |
2.8 (2.0, 3.8) |
97.2 (96.2, 98.0) |
0.2 (0.0, 0.8) |
5.2 (3.8, 7.2) |
94.6 (92.7, 96.1) |
| Mexican American |
Male |
4.6 (3.7, 5.7) |
95.4 (94.3, 96.3) |
0.4 (0.1, 1.7) |
8.4 (6.7, 10.4) |
91.2 (89.2, 92.9) |
| Female |
4.7 (3.8, 5.8) |
95.3 (94.2, 96.2) |
0.1 (0.0, 0.7) |
9.3 (7.7, 11.2) |
90.6 (88.6, 92.3) |
| rs1800469¶
|
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
69.3 (65.9, 72.4) |
30.7 (27.6, 34.1) |
48.6 (44.4, 52.8) |
41.3 (38.0, 44.6) |
10.1 (7.5, 13.6) |
| Female |
67.9 (66.0, 69.7) |
32.1 (30.3, 34.0) |
46.6 (43.3, 49.9) |
42.6 (38.9, 46.4) |
10.8 (9.1, 12.7) |
| Non-Hispanic Black |
Male |
74.2 (71.8, 76.5) |
25.8 (23.5, 28.2) |
54.8 (51.1, 58.4) |
38.9 (35.1, 42.8) |
6.4 (4.5, 9.0) |
| Female |
77.9 (75.8, 79.8) |
22.1 (20.2, 24.2) |
60.8 (57.0, 64.5) |
34.2 (30.4, 38.1) |
5.0 (4.0, 6.3) |
| Mexican American |
Male |
55.5 (52.1, 58.9) |
44.5 (41.1, 47.9) |
33.0 (29.0, 37.2) |
45.1 (42.1, 48.1) |
21.9 (18.8, 25.5) |
| Female |
54.9 (53.5, 56.4) |
45.1 (43.6, 46.5) |
30.0 (27.4, 32.8) |
49.8 (45.3, 54.3) |
20.2 (17.6, 23.0) |
| rs1982073 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
37.6 (34.4, 41.0) |
62.4 (59.0, 65.6) |
16.0 (13.2, 19.3) |
43.3 (39.4, 47.3) |
40.7 (36.2, 45.4) |
| Female |
39.2 (37.6, 40.9) |
60.8 (59.1, 62.4) |
16.5 (14.5, 18.7) |
45.5 (42.2, 48.7) |
38.0 (35.6, 40.5) |
| Non-Hispanic Black |
Male |
46.0 (43.9, 48.1) |
54.0 (51.9, 56.1) |
22.6 (20.2, 25.3) |
46.7 (43.2, 50.3) |
30.7 (27.8, 33.7) |
| Female |
42.3 (39.5, 45.1) |
57.7 (54.9, 60.5) |
17.7 (15.1, 20.6) |
49.3 (46.3, 52.2) |
33.1 (29.6, 36.8) |
| Mexican American |
Male |
49.9 (47.5, 52.4) |
50.1 (47.6, 52.5) |
27.6 (25.0, 30.3) |
44.7 (41.6, 47.7) |
27.8 (24.8, 30.9) |
| Female |
50.6 (48.5, 52.8) |
49.4 (47.2, 51.5) |
25.9 (22.3, 29.9) |
49.4 (44.9, 54.0) |
24.7 (22.4, 27.1) |
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
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