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U.S. Genome Variation Estimates

ACE Allele and Genotype Frequencies

Available polymorphism(s)

  Common Designations  

rs number

Nucleotide change Amino acid

Genotyping method

rs4646994

289-bp Alu insertion/deletion in intron 16

 

Capillary Fragment Analysis

 

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‡
rs4646994 D I   DD DI II    
Non-Hispanic White 54.6 (52.8, 56.3) 45.4 (43.7, 47.2) <0.001 28.8 (25.9, 31.8) 51.6 (47.8, 55.3) 19.6 (17.7, 21.8) <0.001 0.11
Non-Hispanic Black 58.7 (56.9, 60.5) 41.3 (39.5, 43.1) 33.8 (31.5, 36.3) 49.8 (47.3, 52.2) 16.4 (14.6, 18.5) 0.10
Mexican American 46.6 (44.5, 48.8) 53.4 (51.2, 55.5) 20.7 (17.9, 23.7) 51.9 (49.5, 54.4) 27.4 (25.5, 29.3) 0.27
Total* 53.8 (52.2, 55.4) 46.2 (44.6, 47.8)   28.3 (26.0, 30.7) 51.1 (48.5, 53.7) 20.6 (18.9, 22.4)    

* 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.

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By Age*

Variant Age (years) Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs4646994 D I   DD DI II  
12-19 56.3 (53.6, 59.0) 43.7 (41.0, 46.4) 0.104 31.6 (27.9, 35.5) 49.5 (43.2, 55.7) 19.0 (14.8, 23.9) 0.054
20-39 52.0 (49.5, 54.6) 48.0 (45.4, 50.5) 25.9 (22.3, 29.9) 52.2 (47.2, 57.2) 21.9 (18.7, 25.3)
40-59 54.9 (51.9, 57.9) 45.1 (42.1, 48.1) 29.6 (25.5, 34.1) 50.6 (45.9, 55.2) 19.8 (16.8, 23.2)
>=60 54.2 (51.5, 56.8) 45.8 (43.2, 48.5) 28.8 (25.4, 32.5) 50.7 (46.9, 54.5) 20.5 (17.6, 23.6)
Total 53.8 (52.2, 55.4) 46.2 (44.6, 47.8)   28.3 (26.0, 30.7) 51.1 (48.5, 53.7) 20.6 (18.9, 22.4)  

* Includes all participants, regardless of race/ethnicity.

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By Sex* 

Variant Sex Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs4646994 D I   DD DI II  
Male 53.3 (50.9, 55.7) 46.7 (44.3, 49.1) 0.450 28.1 (25.0, 31.4) 50.3 (46.3, 54.4) 21.6 (18.6, 24.8) 0.678
Female 54.3 (52.4, 56.3) 45.7 (43.7, 47.6) 28.5 (26.1, 31.0) 51.8 (48.8, 54.8) 19.8 (17.4, 22.3)
Total 53.8 (52.2, 55.4) 46.2 (44.6, 47.8)   28.3 (26.0, 30.7) 51.1 (48.5, 53.7) 20.6 (18.9, 22.4)  

* Includes all participants, regardless of race/ethnicity.

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By Race/Ethnicity and Age

Variant Race-ethnicity Age (years) Allele
% (95% CI)
Genotype
% (95% CI)
rs4646994 D I DD DI II
Non-Hispanic White 12-19 57.3 (53.1, 61.5) 42.7 (38.5, 46.9) 33.4 (26.9, 40.5) 48.0 (37.0, 59.1) 18.7 (12.5, 27.0)
20-39 52.8 (49.8, 55.9) 47.2 (44.1, 50.2) 26.4 (21.7, 31.8) 52.8 (46.1, 59.5) 20.7 (17.0, 25.0)
40-59 55.3 (51.5, 59.0) 44.7 (41.0, 48.5) 29.3 (24.2, 34.9) 52.0 (45.6, 58.4) 18.7 (14.6, 23.6)
>=60 55.0 (52.0, 57.9) 45.0 (42.1, 48.0) 29.5 (25.6, 33.8) 50.8 (46.4, 55.3) 19.6 (16.6, 23.0)
Non-Hispanic Black 12-19 61.4 (57.5, 65.1) 38.6 (34.9, 42.5) 36.5 (30.5, 43.0) 49.7 (42.4, 57.0) 13.8 (10.3, 18.3)
20-39 58.3 (55.4, 61.2) 41.7 (38.8, 44.6) 32.8 (29.4, 36.3) 51.1 (48.2, 54.1) 16.1 (13.2, 19.4)
40-59 58.1 (54.6, 61.6) 41.9 (38.4, 45.4) 33.8 (29.1, 38.9) 48.5 (44.1, 53.0) 17.6 (14.6, 21.0)
>=60 57.3 (54.1, 60.5) 42.7 (39.5, 45.9) 33.5 (29.1, 38.1) 47.8 (40.5, 55.1) 18.8 (14.1, 24.5)
Mexican American 12-19 46.7 (41.9, 51.5) 53.3 (48.5, 58.1) 20.2 (15.6, 25.7) 53.1 (48.6, 57.6) 26.8 (21.6, 32.7)
20-39 47.2 (43.7, 50.8) 52.8 (49.2, 56.3) 21.9 (18.0, 26.4) 50.6 (46.7, 54.6) 27.5 (23.8, 31.5)
40-59 46.3 (41.7, 51.0) 53.7 (49.0, 58.3) 19.7 (15.2, 25.1) 53.3 (47.2, 59.3) 27.0 (21.3, 33.6)
>=60 43.7 (40.2, 47.3) 56.3 (52.7, 59.8) 16.9 (15.0, 19.0) 53.6 (46.9, 60.1) 29.5 (23.3, 36.5)

 

By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs4646994 D I DD DI II
Non-Hispanic White Male 54.1 (51.4, 56.8) 45.9 (43.2, 48.6) 28.6 (24.7, 32.9) 51.0 (45.7, 56.3) 20.4 (17.2, 24.0)
Female 55.0 (52.6, 57.3) 45.0 (42.7, 47.4) 28.9 (25.7, 32.4) 52.1 (47.9, 56.3) 19.0 (16.2, 22.1)
Non-Hispanic Black Male 59.5 (56.8, 62.2) 40.5 (37.8, 43.2) 34.5 (31.2, 38.0) 50.0 (46.3, 53.6) 15.5 (12.6, 19.0)
Female 58.0 (55.7, 60.3) 42.0 (39.7, 44.3) 33.2 (30.4, 36.1) 49.6 (46.6, 52.6) 17.2 (14.8, 19.9)
Mexican American Male 46.1 (42.7, 49.5) 53.9 (50.5, 57.3) 19.6 (15.9, 24.0) 52.9 (49.9, 55.8) 27.5 (24.3, 30.9)
Female 47.2 (44.4, 50.1) 52.8 (49.9, 55.6) 21.7 (18.2, 25.7) 51.0 (48.2, 53.8) 27.3 (24.9, 29.8)

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