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U.S. Genome Variation Estimates

SERPINE1 Allele and Genotype Frequencies

Available polymorphism(s)

rs number

Common Designations

Nucleotide change Amino acid

Genotyping method

rs1799762
rs1799768
rs1799889

4G/5G insertion/deletion
in promoter

MGB Eclipse



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‡
rs1799762§4G5G4G/4G4G/5G5G/5G
Non-Hispanic White52.5 (50.8, 54.3)47.5 (45.7, 49.2)<0.00127.7 (25.8, 29.6)49.7 (47.8, 51.7)22.6 (20.6, 24.7)<0.0010.92
Non-Hispanic Black26.7 (25.0, 28.4)73.3 (71.6, 75.0)6.6 (5.3, 8.3)40.1 (37.8, 42.5)53.3 (50.8, 55.7)0.17
Mexican American34.0 (31.5, 36.6)66.0 (63.4, 68.5)11.9 (9.5, 14.9)44.2 (41.9, 46.5)43.9 (41.0, 46.9)0.46
Total*47.9 (46.0, 49.8)52.1 (50.2, 54.0)24.0 (22.4, 25.6)47.8 (46.1, 49.6)28.2 (25.8, 30.7)

* 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.
§ Variant also known as rs1799768 and rs1799889.

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By Age*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1799762†4G5G4G/4G4G/5G5G/5G
12-1945.4 (41.3, 49.5)54.6 (50.5, 58.7)0.02421.2 (17.3, 25.7)48.4 (44.4, 52.3)30.4 (25.8, 35.5)0.013
20-3946.6 (44.3, 48.9)53.4 (51.1, 55.7)22.4 (20.2, 24.8)48.4 (44.8, 52.0)29.2 (25.9, 32.7)
40-5949.9 (47.2, 52.6)50.1 (47.4, 52.8)26.7 (23.8, 29.7)46.5 (43.8, 49.3)26.8 (23.8, 30.0)
>=6049.3 (47.6, 51.0)50.7 (49.0, 52.4)25.3 (22.4, 28.3)48.1 (44.1, 52.1)26.6 (24.4, 29.0)
Total47.9 (46.0, 49.8)52.1 (50.2, 54.0)24.0 (22.4, 25.6)47.8 (46.1, 49.6)28.2 (25.8, 30.7)

* Includes all participants, regardless of race/ethnicity.
† Variant also known as rs1799768 and rs1799889.

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By Sex*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1799762†4G5G4G/4G4G/5G5G/5G
Male48.0 (45.3, 50.8)52.0 (49.2, 54.7)0.83325.3 (22.6, 28.2)45.4 (42.2, 48.7)29.2 (25.8, 32.9)0.050
Female47.7 (45.8, 49.7)52.3 (50.3, 54.2)22.7 (20.8, 24.8)50.1 (48.4, 51.7)27.2 (25.1, 29.5)
Total47.9 (46.0, 49.8)52.1 (50.2, 54.0)24.0 (22.4, 25.6)47.8 (46.1, 49.6)28.2 (25.8, 30.7)

* Includes all participants, regardless of race/ethnicity.
† Variant also known as rs1799768 and rs1799889.

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By Race/Ethnicity and Age

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs1799762*4G5G4G/4G4G/5G5G/5G
Non-Hispanic White12-1950.0 (45.7, 54.2)50.0 (45.8, 54.3)24.8 (19.9, 30.5)50.4 (44.1, 56.6)24.8 (20.0, 30.4)
20-3952.7 (49.8, 55.6)47.3 (44.4, 50.2)27.0 (23.7, 30.5)51.5 (47.4, 55.6)21.5 (18.0, 25.5)
40-5953.7 (50.7, 56.6)46.3 (43.4, 49.3)29.7 (26.6, 33.0)48.0 (44.9, 51.0)22.3 (19.1, 25.9)
>=6052.1 (49.9, 54.3)47.9 (45.7, 50.1)27.7 (24.7, 30.9)48.7 (45.1, 52.4)23.5 (21.1, 26.2)
Non-Hispanic Black12-1925.8 (23.1, 28.8)74.2 (71.2, 76.9)5.6 (3.5, 9.1)40.3 (37.7, 43.0)54.0 (50.5, 57.5)
20-3926.8 (23.5, 30.3)73.2 (69.7, 76.5)7.2 (4.7, 10.8)39.1 (36.1, 42.2)53.7 (49.3, 58.0)
40-5927.6 (24.5, 31.0)72.4 (69.0, 75.5)7.1 (4.8, 10.4)41.1 (35.1, 47.3)51.8 (46.1, 57.6)
>=6025.7 (22.5, 29.3)74.3 (70.7, 77.5)5.1 (2.5, 10.2)41.2 (34.3, 48.5)53.7 (47.7, 59.6)
Mexican American12-1936.7 (30.3, 43.6)63.3 (56.4, 69.7)14.0 (9.3, 20.6)45.3 (40.2, 50.6)40.6 (32.5, 49.3)
20-3931.6 (29.1, 34.2)68.4 (65.8, 70.9)10.0 (7.8, 12.8)43.1 (38.3, 48.2)46.8 (42.4, 51.3)
40-5936.0 (30.4, 41.9)64.0 (58.1, 69.6)13.3 (7.5, 22.4)45.4 (38.4, 52.6)41.3 (35.4, 47.6)
>=6036.9 (33.2, 40.7)63.1 (59.3, 66.8)14.4 (11.0, 18.7)44.9 (41.0, 48.8)40.7 (36.1, 45.4)

* Variant also known as rs1799768 and rs1799889.


By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1799762*4G5G4G/4G4G/5G5G/5G
Non-Hispanic WhiteMale52.5 (49.5, 55.5)47.5 (44.5, 50.5)28.8 (25.3, 32.6)47.5 (43.7, 51.2)23.7 (20.5, 27.3)
Female52.5 (50.8, 54.3)47.5 (45.7, 49.2)26.6 (24.2, 29.1)51.9 (49.3, 54.5)21.5 (19.7, 23.4)
Non-Hispanic BlackMale27.2 (25.3, 29.1)72.8 (70.9, 74.7)6.1 (4.4, 8.5)42.0 (38.3, 45.9)51.8 (48.6, 55.1)
Female26.3 (24.2, 28.5)73.7 (71.5, 75.8)7.0 (5.7, 8.6)38.5 (35.6, 41.6)54.5 (51.0, 57.9)
Mexican AmericanMale33.2 (30.5, 36.1)66.8 (63.9, 69.5)12.0 (9.2, 15.4)42.5 (38.8, 46.2)45.5 (42.0, 49.1)
Female34.8 (31.8, 38.0)65.2 (62.0, 68.2)11.8 (9.4, 14.7)46.0 (43.3, 48.8)42.2 (38.2, 46.3)

* Variant also known as rs1799768 and rs1799889

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