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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

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1126643CTCCCTTT
Non-Hispanic White58.8 (56.7, 60.9)41.2 (39.1, 43.3)<0.00134.7 (32.8, 36.6)48.3 (46.3, 50.3)17.0 (14.5, 19.8)<0.0010.64
Non-Hispanic Black70.4 (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 American55.4 (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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1126643CTCCCTTT
12-1957.5 (53.1, 61.9)42.5 (38.1, 46.9)0.47734.2 (29.9, 38.8)46.6 (42.2, 51.2)19.2 (14.3, 25.2)0.432
20-3960.9 (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)
40-5960.5 (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)
>=6060.9 (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)
Total60.3 (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*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1126643CTCCCTTT
Male60.3 (58.0, 62.6)39.7 (37.4, 42.0)1.00037.2 (34.5, 40.1)46.1 (44.0, 48.2)16.7 (14.5, 19.0)0.225
Female60.3 (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)
Total60.3 (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

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs1126643CTCCCTTT
Non-Hispanic White12-1954.1 (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)
20-3959.5 (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)
40-5958.8 (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)
>=6060.3 (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 Black12-1970.6 (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)
20-3969.3 (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)
40-5970.7 (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)
>=6072.8 (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 American12-1953.1 (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)
20-3955.7 (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)
40-5957.0 (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)
>=6054.9 (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

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1126643CTCCCTTT
Non-Hispanic WhiteMale59.1 (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)
Female58.6 (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 BlackMale69.6 (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)
Female71.0 (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 AmericanMale55.2 (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)
Female55.6 (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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