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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

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1799762§ 4G 5G   4G/4G 4G/5G 5G/5G    
Non-Hispanic White 52.5 (50.8, 54.3) 47.5 (45.7, 49.2) <0.001 27.7 (25.8, 29.6) 49.7 (47.8, 51.7) 22.6 (20.6, 24.7) <0.001 0.92
Non-Hispanic Black 26.7 (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 American 34.0 (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*

Variant Age (years) Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1799762† 4G 5G   4G/4G 4G/5G 5G/5G  
12-19 45.4 (41.3, 49.5) 54.6 (50.5, 58.7) 0.024 21.2 (17.3, 25.7) 48.4 (44.4, 52.3) 30.4 (25.8, 35.5) 0.013
20-39 46.6 (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)
40-59 49.9 (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)
>=60 49.3 (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)
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 participants, regardless of race/ethnicity.
† Variant also known as rs1799768 and rs1799889.

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By Sex* 

Variant Sex Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1799762† 4G 5G 4G/4G 4G/5G 5G/5G
Male 48.0 (45.3, 50.8) 52.0 (49.2, 54.7) 0.833 25.3 (22.6, 28.2) 45.4 (42.2, 48.7) 29.2 (25.8, 32.9) 0.050
Female 47.7 (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)
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 participants, regardless of race/ethnicity.
† Variant also known as rs1799768 and rs1799889.

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By Race/Ethnicity and Age

Variant Race-ethnicity Age (years) Allele
% (95% CI)
Genotype
% (95% CI)
rs1799762* 4G 5G 4G/4G 4G/5G 5G/5G
Non-Hispanic White 12-19 50.0 (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)
20-39 52.7 (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)
40-59 53.7 (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)
>=60 52.1 (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 Black 12-19 25.8 (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)
20-39 26.8 (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)
40-59 27.6 (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)
>=60 25.7 (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 American 12-19 36.7 (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)
20-39 31.6 (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)
40-59 36.0 (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)
>=60 36.9 (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

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1799762* 4G 5G 4G/4G 4G/5G 5G/5G
Non-Hispanic White Male 52.5 (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)
Female 52.5 (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 Black Male 27.2 (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)
Female 26.3 (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 American Male 33.2 (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)
Female 34.8 (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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