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U.S. Genome Variation Estimates

IL4R Allele and Genotype Frequencies

Available polymorphism(s)

rs number

Common Designations

Nucleotide change Amino acid

Genotyping method

rs1801275

Ex12+828A>G

Gln576Arg

TaqMan

rs1805015

Ex12+608T>C

Ser503Pro

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‡
rs1801275AGAAAGGG
Non-Hispanic White79.2 (77.9, 80.5)20.8 (19.5, 22.1)<0.00162.7 (60.8, 64.6)33.1 (31.5, 34.6)4.2 (3.3, 5.4)<0.0010.73
Non-Hispanic Black32.9 (30.7, 35.2)67.1 (64.8, 69.3)13.1 (11.4, 15.1)39.5 (37.1, 42.0)47.3 (44.2, 50.4)<0.01
Mexican American71.4 (69.4, 73.2)28.6 (26.8, 30.6)51.4 (49.2, 53.6)39.8 (38.2, 41.5)8.7 (6.9, 10.9)0.58
Total*73.2 (71.1, 75.2)26.8 (24.8, 28.9)55.9 (53.1, 58.6)34.7 (32.8, 36.5)9.5 (8.0, 11.2)
rs1805015CTCCCTTT
Non-Hispanic White15.7 (14.2, 17.3)84.3 (82.7, 85.8)<0.0012.4 (1.7, 3.3)26.7 (24.8, 28.7)71.0 (68.5, 73.3)<0.0010.97
Non-Hispanic Black36.7 (34.9, 38.7)63.3 (61.3, 65.1)12.7 (11.1, 14.6)48.0 (45.9, 50.1)39.3 (36.8, 41.8)0.36
Mexican American15.7 (14.1, 17.4)84.3 (82.6, 85.9)2.9 (2.0, 4.1)25.7 (23.3, 28.2)71.4 (68.7, 74.1)0.51
Total*17.8 (16.4, 19.3)82.2 (80.7, 83.6)3.5 (2.9, 4.4)28.6 (26.7, 30.5)67.9 (65.5, 70.2)

* 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
rs1801275AGAAAGGG
12-1972.2 (68.6, 75.5)27.8 (24.5, 31.4)0.14454.8 (49.5, 60.1)34.7 (30.1, 39.5)10.5 (8.2, 13.3)0.034
20-3972.0 (69.2, 74.6)28.0 (25.4, 30.8)53.6 (49.6, 57.5)36.8 (33.8, 40.0)9.6 (7.8, 11.6)
40-5974.0 (71.0, 76.8)26.0 (23.2, 29.0)57.9 (54.2, 61.5)32.3 (30.0, 34.7)9.8 (7.6, 12.7)
>=6075.2 (72.8, 77.4)24.8 (22.6, 27.2)58.3 (54.6, 62.0)33.6 (29.8, 37.8)8.0 (6.0, 10.6)
Total73.2 (71.1, 75.2)26.8 (24.8, 28.9)55.9 (53.1, 58.6)34.7 (32.8, 36.5)9.5 (8.0, 11.2)
rs1805015CTCCCTTT
12-1918.8 (16.1, 21.8)81.2 (78.2, 83.9)0.4114.6 (3.3, 6.3)28.5 (24.6, 32.7)67.0 (62.1, 71.5)0.314
20-3917.4 (15.7, 19.2)82.6 (80.8, 84.3)3.1 (2.4, 3.8)28.7 (26.0, 31.5)68.3 (65.2, 71.2)
40-5918.5 (16.3, 21.0)81.5 (79.0, 83.7)4.0 (2.6, 6.2)29.0 (26.5, 31.8)67.0 (63.5, 70.3)
>=6017.0 (15.4, 18.8)83.0 (81.2, 84.6)3.1 (2.3, 4.2)27.8 (25.1, 30.6)69.1 (66.1, 72.0)
Total17.8 (16.4, 19.3)82.2 (80.7, 83.6)3.5 (2.9, 4.4)28.6 (26.7, 30.5)67.9 (65.5, 70.2)

* 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
rs1801275AGAAAGGG
Male73.6 (70.7, 76.3)26.4 (23.7, 29.3)0.57356.5 (52.4, 60.6)34.0 (31.0, 37.2)9.4 (7.8, 11.4)0.817
Female72.9 (70.8, 74.8)27.1 (25.2, 29.2)55.2 (52.5, 58.0)35.2 (33.1, 37.5)9.5 (8.0, 11.3)
Total73.2 (71.1, 75.2)26.8 (24.8, 28.9)55.9 (53.1, 58.6)34.7 (32.8, 36.5)9.5 (8.0, 11.2)
rs1805015CTCCCTTT
Male18.1 (16.4, 20.0)81.9 (80.0, 83.6)0.3813.3 (2.5, 4.3)29.6 (26.6, 32.8)67.1 (63.8, 70.2)0.391
Female17.5 (16.1, 19.0)82.5 (81.0, 83.9)3.7 (2.9, 4.9)27.6 (26.0, 29.2)68.7 (66.5, 70.7)
Total17.8 (16.4, 19.3)82.2 (80.7, 83.6)3.5 (2.9, 4.4)28.6 (26.7, 30.5)67.9 (65.5, 70.2)

* 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)
rs1801275AGAAAGGG
Non-Hispanic White12-1981.2 (76.5, 85.2)18.8 (14.8, 23.5)66.0 (59.0, 72.4)30.5 (25.0, 36.5)3.6 (1.5, 8.2)
20-3978.3 (75.8, 80.7)21.7 (19.3, 24.2)60.6 (56.2, 64.8)35.5 (31.6, 39.6)3.9 (2.9, 5.3)
40-5979.2 (76.1, 81.9)20.8 (18.1, 23.9)63.6 (60.2, 66.9)31.0 (29.0, 33.1)5.3 (3.2, 8.8)
>=6079.7 (77.4, 81.9)20.3 (18.1, 22.6)63.2 (58.5, 67.7)33.1 (28.2, 38.3)3.7 (2.6, 5.4)
Non-Hispanic Black12-1934.5 (30.4, 38.8)65.5 (61.2, 69.6)13.9 (10.3, 18.6)41.1 (35.1, 47.5)44.9 (38.9, 51.1)
20-3932.6 (29.8, 35.6)67.4 (64.4, 70.2)13.3 (10.6, 16.7)38.5 (35.5, 41.7)48.1 (44.6, 51.7)
40-5934.4 (30.1, 39.0)65.6 (61.0, 69.9)13.2 (9.4, 18.2)42.5 (37.7, 47.5)44.3 (38.7, 50.1)
>=6029.1 (25.2, 33.3)70.9 (66.7, 74.8)11.4 (7.9, 16.3)35.3 (30.9, 39.9)53.3 (48.1, 58.4)
Mexican American12-1972.9 (70.5, 75.2)27.1 (24.8, 29.5)53.1 (47.6, 58.5)39.7 (32.6, 47.3)7.2 (4.8, 10.8)
20-3969.7 (67.5, 71.8)30.3 (28.2, 32.5)48.7 (46.3, 51.0)42.1 (40.0, 44.1)9.3 (7.1, 12.0)
40-5973.2 (69.3, 76.8)26.8 (23.2, 30.7)55.5 (49.9, 60.9)35.5 (31.1, 40.1)9.0 (6.5, 12.4)
>=6072.7 (68.6, 76.5)27.3 (23.5, 31.4)53.7 (48.7, 58.6)38.1 (33.1, 43.4)8.2 (4.7, 14.0)
rs1805015CTCCCTTT
Non-Hispanic White12-1913.6 (9.4, 19.4)86.4 (80.6, 90.6)2.7 (1.1, 6.5)21.8 (15.9, 29.2)75.4 (66.5, 82.6)
20-3915.3 (13.3, 17.6)84.7 (82.4, 86.7)1.6 (1.0, 2.8)27.3 (24.3, 30.5)71.1 (67.3, 74.6)
40-5917.3 (14.8, 20.1)82.7 (79.9, 85.2)3.5 (1.9, 6.3)27.6 (24.8, 30.7)68.9 (65.1, 72.5)
>=6015.5 (13.9, 17.2)84.5 (82.8, 86.1)2.0 (1.3, 3.0)27.0 (24.1, 30.2)71.0 (67.8, 74.0)
Non-Hispanic Black12-1939.7 (36.1, 43.6)60.3 (56.4, 63.9)13.5 (11.1, 16.4)52.4 (47.6, 57.2)34.0 (28.6, 40.0)
20-3935.9 (33.1, 38.8)64.1 (61.2, 66.9)12.6 (10.2, 15.3)46.7 (42.2, 51.2)40.8 (36.3, 45.3)
40-5935.6 (32.4, 38.9)64.4 (61.1, 67.6)10.3 (8.0, 13.2)50.5 (46.5, 54.5)39.2 (34.5, 44.1)
>=6037.4 (33.8, 41.2)62.6 (58.8, 66.2)16.6 (13.1, 20.7)41.7 (35.5, 48.1)41.7 (36.1, 47.6)
Mexican American12-1915.6 (13.2, 18.4)84.4 (81.6, 86.8)2.3 (1.3, 3.9)26.7 (21.4, 32.8)71.0 (65.5, 76.0)
20-3916.1 (13.6, 19.1)83.9 (80.9, 86.4)3.0 (1.8, 5.0)26.3 (22.9, 29.9)70.7 (66.2, 74.9)
40-5914.6 (12.7, 16.8)85.4 (83.2, 87.3)2.5 (1.4, 4.5)24.3 (20.4, 28.6)73.2 (69.2, 76.9)
>=6016.1 (13.2, 19.4)83.9 (80.6, 86.8)4.4 (1.9, 9.6)23.4 (19.7, 27.6)72.2 (68.3, 75.8)

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By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1801275AGAAAGGG
Non-Hispanic WhiteMale79.3 (77.2, 81.3)20.7 (18.7, 22.8)63.1 (59.3, 66.6)32.6 (29.2, 36.1)4.4 (3.4, 5.6)
Female79.1 (77.3, 80.9)20.9 (19.1, 22.7)62.4 (59.5, 65.1)33.5 (31.2, 35.9)4.1 (3.0, 5.5)
Non-Hispanic BlackMale31.1 (28.2, 34.1)68.9 (65.9, 71.8)11.6 (9.5, 14.2)38.9 (34.3, 43.7)49.5 (44.7, 54.3)
Female34.4 (31.7, 37.3)65.6 (62.7, 68.3)14.4 (12.0, 17.2)40.1 (37.0, 43.3)45.5 (41.8, 49.3)
Mexican AmericanMale70.8 (67.9, 73.4)29.2 (26.6, 32.1)50.4 (46.9, 53.8)40.8 (37.9, 43.8)8.8 (6.4, 12.0)
Female72.0 (68.4, 75.3)28.0 (24.7, 31.6)52.6 (47.5, 57.6)38.8 (35.1, 42.7)8.6 (6.6, 11.2)
rs1805015CTCCCTTT
Non-Hispanic WhiteMale15.9 (14.3, 17.6)84.1 (82.4, 85.7)2.0 (1.2, 3.3)27.7 (24.8, 30.9)70.2 (67.1, 73.2)
Female15.5 (13.8, 17.4)84.5 (82.6, 86.2)2.7 (1.7, 4.2)25.7 (23.7, 27.7)71.6 (68.9, 74.2)
Non-Hispanic BlackMale39.6 (37.0, 42.4)60.4 (57.6, 63.0)14.8 (12.5, 17.4)49.7 (45.2, 54.2)35.5 (31.3, 39.9)
Female34.3 (31.8, 36.9)65.7 (63.1, 68.2)11.0 (8.8, 13.7)46.6 (42.2, 51.0)42.4 (38.4, 46.5)
Mexican AmericanMale15.8 (13.9, 17.8)84.2 (82.2, 86.1)2.5 (1.8, 3.3)26.6 (23.7, 29.7)70.9 (67.4, 74.2)
Female15.6 (13.0, 18.6)84.4 (81.4, 87.0)3.3 (1.7, 6.1)24.7 (21.5, 28.3)72.0 (67.7, 76.0)


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