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U.S. Genome Variation Estimates

ITGA2 Allele and Genotype Frequencies

 

Available polymorphism(s)

rs number

Common Designations

Nucleotide change                  Amino acid

Genotyping method

rs1126643

Ex7-21C>T

Phe253Phe

TaqMan



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‡
rs1126643 C T   CC CT TT    
Non-Hispanic White 58.8 (56.7, 60.9) 41.2 (39.1, 43.3) <0.001 34.7 (32.8, 36.6) 48.3 (46.3, 50.3) 17.0 (14.5, 19.8) <0.001 0.64
Non-Hispanic Black 70.4 (68.0, 72.7) 29.6 (27.3, 32.0) 48.5 (45.3, 51.8) 43.7 (41.3, 46.0) 7.8 (6.1, 9.8) 0.14
Mexican American 55.4 (53.8, 56.9) 44.6 (43.1, 46.2) 30.3 (28.3, 32.4) 50.1 (47.9, 52.3) 19.6 (17.9, 21.3) 0.99
Total* 60.3 (58.8, 61.8) 39.7 (38.2, 41.2)   36.5 (35.1, 37.9) 47.6 (46.2, 49.1) 15.9 (14.1, 17.9)    

* 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
rs1126643 C T   CC CT TT  
12-19 57.5 (53.1, 61.9) 42.5 (38.1, 46.9) 0.477 34.2 (29.9, 38.8) 46.6 (42.2, 51.2) 19.2 (14.3, 25.2) 0.432
20-39 60.9 (58.2, 63.4) 39.1 (36.6, 41.8) 36.5 (33.7, 39.4) 48.7 (45.8, 51.7) 14.8 (11.9, 18.2)
40-59 60.5 (57.2, 63.7) 39.5 (36.3, 42.8) 37.5 (33.3, 41.9) 45.9 (42.4, 49.4) 16.6 (13.8, 19.8)
>=60 60.9 (58.9, 62.8) 39.1 (37.2, 41.1) 36.6 (34.3, 39.0) 48.6 (46.3, 50.8) 14.8 (12.8, 17.1)
Total 60.3 (58.8, 61.8) 39.7 (38.2, 41.2)   36.5 (35.1, 37.9) 47.6 (46.2, 49.1) 15.9 (14.1, 17.9)  

* 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
rs1126643 C T CC CT TT
Male 60.3 (58.0, 62.6) 39.7 (37.4, 42.0) 1.000 37.2 (34.5, 40.1) 46.1 (44.0, 48.2) 16.7 (14.5, 19.0) 0.225
Female 60.3 (58.4, 62.2) 39.7 (37.8, 41.6) 35.8 (33.6, 38.0) 49.0 (46.3, 51.8) 15.2 (12.9, 17.8)
Total 60.3 (58.8, 61.8) 39.7 (38.2, 41.2)   36.5 (35.1, 37.9) 47.6 (46.2, 49.1) 15.9 (14.1, 17.9)  

* 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)
rs1126643 C T CC CT TT
Non-Hispanic White 12-19 54.1 (48.3, 59.8) 45.9 (40.2, 51.7) 30.4 (24.5, 37.0) 47.5 (40.9, 54.1) 22.1 (15.9, 30.0)
20-39 59.5 (56.4, 62.5) 40.5 (37.5, 43.6) 34.2 (30.8, 37.7) 50.6 (46.5, 54.6) 15.2 (11.8, 19.5)
40-59 58.8 (54.6, 63.0) 41.2 (37.0, 45.4) 36.3 (31.0, 42.0) 45.1 (40.5, 49.7) 18.6 (15.0, 22.8)
>=60 60.3 (58.3, 62.4) 39.7 (37.6, 41.7) 35.6 (33.0, 38.3) 49.4 (46.6, 52.2) 15.0 (12.8, 17.4)
Non-Hispanic Black 12-19 70.6 (66.0, 74.9) 29.4 (25.1, 34.0) 49.8 (42.2, 57.4) 41.6 (34.8, 48.8) 8.6 (6.5, 11.2)
20-39 69.3 (65.7, 72.7) 30.7 (27.3, 34.3) 47.9 (43.6, 52.3) 42.7 (38.8, 46.7) 9.4 (6.3, 13.7)
40-59 70.7 (68.4, 72.9) 29.3 (27.1, 31.6) 47.0 (43.1, 50.8) 47.5 (43.6, 51.4) 5.5 (4.0, 7.6)
>=60 72.8 (68.0, 77.2) 27.2 (22.8, 32.0) 51.6 (44.5, 58.6) 42.5 (36.4, 48.9) 5.9 (3.3, 10.4)
Mexican American 12-19 53.1 (49.3, 56.9) 46.9 (43.1, 50.7) 26.9 (21.7, 32.9) 52.4 (46.1, 58.6) 20.6 (16.8, 25.2)
20-39 55.7 (53.5, 57.9) 44.3 (42.1, 46.5) 31.5 (29.1, 34.0) 48.4 (45.7, 51.1) 20.1 (17.6, 22.9)
40-59 57.0 (53.6, 60.3) 43.0 (39.7, 46.4) 30.8 (27.5, 34.3) 52.3 (47.4, 57.2) 16.9 (12.6, 22.3)
>=60 54.9 (50.9, 58.8) 45.1 (41.2, 49.1) 30.3 (26.1, 34.8) 49.2 (44.2, 54.2) 20.5 (15.9, 26.0)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1126643 C T CC CT TT
Non-Hispanic White Male 59.1 (56.4, 61.7) 40.9 (38.3, 43.6) 35.4 (32.2, 38.7) 47.4 (44.5, 50.3) 17.2 (14.6, 20.2)
Female 58.6 (56.0, 61.2) 41.4 (38.8, 44.0) 34.0 (31.6, 36.5) 49.2 (46.1, 52.4) 16.8 (13.6, 20.6)
Non-Hispanic Black Male 69.6 (66.2, 72.8) 30.4 (27.2, 33.8) 46.2 (41.3, 51.2) 46.7 (42.5, 51.0) 7.1 (4.9, 10.0)
Female 71.0 (68.6, 73.3) 29.0 (26.7, 31.4) 50.4 (47.2, 53.7) 41.2 (39.1, 43.3) 8.4 (6.8, 10.3)
Mexican American Male 55.2 (52.6, 57.8) 44.8 (42.2, 47.4) 31.3 (28.2, 34.6) 47.8 (43.7, 51.9) 20.9 (17.7, 24.5)
Female 55.6 (53.9, 57.2) 44.4 (42.8, 46.1) 29.3 (27.0, 31.6) 52.6 (50.1, 55.1) 18.2 (16.3, 20.1)


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