TGFB1/B9D2 Allele and Genotype Frequencies
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Available polymorphism(s)
|
rs number |
Common Designations
Nucleotide change Amino acid |
Genotyping method |
|
|---|---|---|---|
|
rs1800468¶ |
Ex4-262G>A |
TaqMan |
|
|
rs1800469¶ |
308bp 3′ of STP C>T |
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.
By Race/Ethnicity
| 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.
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.
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.
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.
- Page last reviewed: March 16, 2009 (archived document)
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