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U.S. Genome Variation Estimates

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.



Allele and Genotype Frequencies for Subpopulations

 


 

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.

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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.

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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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