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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

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1800468 AGAAAGGG
Non-Hispanic White7.6 (6.7, 8.7)92.4 (91.3, 93.3)<0.0010.5 (0.2, 1.1)14.3 (12.6, 16.2)85.2 (83.2, 87.0)<0.0010.90
Non-Hispanic Black2.8 (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 American4.6 (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 CTCCCTTT
Non-Hispanic White68.6 (66.8, 70.3)31.4 (29.7, 33.2)<0.00147.6 (45.1, 50.1)42.0 (39.4, 44.6)10.5 (8.7, 12.5)<0.0010.93
Non-Hispanic Black76.2 (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 American55.2 (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)
rs1982073CTCCCTTT
Non-Hispanic White38.5 (36.8, 40.2)61.5 (59.8, 63.2)<0.00116.3 (14.5, 18.3)44.4 (42.4, 46.4)39.3 (37.2, 41.5)<0.0010.05
Non-Hispanic Black44.0 (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 American50.3 (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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1800468 AGAAAGGG
12-195.3 (3.8, 7.4)94.7 (92.6, 96.2)0.3220.2 (0.0, 2.2)10.2 (7.0, 14.5)89.6 (85.5, 92.7)0.720
20-397.3 (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)
40-596.2 (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)
>=607.0 (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)
Total6.7 (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 CTCCCTTT
12-1969.8 (66.6, 72.9)30.2 (27.1, 33.4)0.34449.9 (45.2, 54.6)39.9 (34.0, 46.1)10.2 (6.8, 15.0)0.283
20-3967.1 (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)
40-5968.5 (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)
>=6067.2 (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)
Total67.9 (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)
rs1982073CTCCCTTT
0.795
12-1939.1 (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
20-3940.7 (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)
40-5940.2 (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)
>=6041.0 (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)
Total40.4 (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*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1800468 AGAAAGGG
Male6.8 (5.6, 8.3)93.2 (91.7, 94.4)0.6910.3 (0.1, 1.2)13.0 (10.8, 15.5)86.7 (84.0, 89.0)0.740
Female6.6 (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)
Total6.7 (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 CTCCCTTT
Male67.7 (64.8, 70.4)32.3 (29.6, 35.2)0.77747.1 (43.6, 50.6)41.2 (38.5, 43.8)11.8 (9.5, 14.5)0.671
Female68.1 (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)
Total67.9 (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)
rs1982073CTCCCTTT
Male40.2 (37.3, 43.2)59.8 (56.8, 62.7)0.82118.3 (15.9, 21.1)43.7 (40.6, 46.9)37.9 (34.0, 42.0)0.472
Female40.6 (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)
Total40.4 (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

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs1800468 AGAAAGGG
Non-Hispanic White12-196.6 (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)
20-398.5 (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)
40-597.0 (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)
>=607.7 (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 Black12-192.5 (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)
20-393.0 (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)
40-592.8 (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)
>=602.5 (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 American12-193.8 (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)
20-394.7 (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)
40-595.2 (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)
>=605.1 (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 CTCCCTTT
Non-Hispanic White12-1969.9 (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)
20-3968.2 (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)
40-5969.5 (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)
>=6067.1 (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 Black12-1978.8 (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)
20-3977.2 (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)
40-5973.1 (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)
>=6075.3 (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 American12-1954.1 (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)
20-3954.3 (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)
40-5958.6 (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)
>=6055.0 (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)
rs1982073CTCCCTTT
Non-Hispanic White12-1937.0 (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)
20-3937.9 (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)
40-5938.6 (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)
>=6040.2 (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 Black12-1938.2 (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)
20-3944.8 (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)
40-5946.0 (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)
>=6045.4 (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 American12-1951.6 (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)
20-3951.1 (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)
40-5946.7 (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)
>=6051.5 (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

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1800468 AGAAAGGG
Non-Hispanic WhiteMale7.8 (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)
Female7.5 (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 BlackMale2.8 (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)
Female2.8 (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 AmericanMale4.6 (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)
Female4.7 (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 CTCCCTTT
Non-Hispanic WhiteMale69.3 (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)
Female67.9 (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 BlackMale74.2 (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)
Female77.9 (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 AmericanMale55.5 (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)
Female54.9 (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)
rs1982073CTCCCTTT
Non-Hispanic WhiteMale37.6 (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)
Female39.2 (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 BlackMale46.0 (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)
Female42.3 (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 AmericanMale49.9 (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)
Female50.6 (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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Error processing SSI file
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