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

 


By Race/Ethnicity

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1801275 A G AA AG GG
Non-Hispanic White 79.2 (77.9, 80.5) 20.8 (19.5, 22.1) <0.001 62.7 (60.8, 64.6) 33.1 (31.5, 34.6) 4.2 (3.3, 5.4) <0.001 0.73
Non-Hispanic Black 32.9 (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 American 71.4 (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)
rs1805015 C T CC CT TT
Non-Hispanic White 15.7 (14.2, 17.3) 84.3 (82.7, 85.8) <0.001 2.4 (1.7, 3.3) 26.7 (24.8, 28.7) 71.0 (68.5, 73.3) <0.001 0.97
Non-Hispanic Black 36.7 (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 American 15.7 (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*

Variant Age (years) Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1801275 A G AA AG GG
12-19 72.2 (68.6, 75.5) 27.8 (24.5, 31.4) 0.144 54.8 (49.5, 60.1) 34.7 (30.1, 39.5) 10.5 (8.2, 13.3) 0.034
20-39 72.0 (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)
40-59 74.0 (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)
>=60 75.2 (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)
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)
rs1805015 C T CC CT TT
12-19 18.8 (16.1, 21.8) 81.2 (78.2, 83.9) 0.411 4.6 (3.3, 6.3) 28.5 (24.6, 32.7) 67.0 (62.1, 71.5) 0.314
20-39 17.4 (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)
40-59 18.5 (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)
>=60 17.0 (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)
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 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
rs1801275 A G AA AG GG
Male 73.6 (70.7, 76.3) 26.4 (23.7, 29.3) 0.573 56.5 (52.4, 60.6) 34.0 (31.0, 37.2) 9.4 (7.8, 11.4) 0.817
Female 72.9 (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)
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)
rs1805015 C T CC CT TT
Male 18.1 (16.4, 20.0) 81.9 (80.0, 83.6) 0.381 3.3 (2.5, 4.3) 29.6 (26.6, 32.8) 67.1 (63.8, 70.2) 0.391
Female 17.5 (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)
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 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)
rs1801275 A G AA AG GG
Non-Hispanic White 12-19 81.2 (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)
20-39 78.3 (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)
40-59 79.2 (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)
>=60 79.7 (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 Black 12-19 34.5 (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)
20-39 32.6 (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)
40-59 34.4 (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)
>=60 29.1 (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 American 12-19 72.9 (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)
20-39 69.7 (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)
40-59 73.2 (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)
>=60 72.7 (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)
rs1805015 C T CC CT TT
Non-Hispanic White 12-19 13.6 (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)
20-39 15.3 (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)
40-59 17.3 (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)
>=60 15.5 (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 Black 12-19 39.7 (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)
20-39 35.9 (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)
40-59 35.6 (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)
>=60 37.4 (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 American 12-19 15.6 (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)
20-39 16.1 (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)
40-59 14.6 (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)
>=60 16.1 (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

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1801275 A G AA AG GG
Non-Hispanic White Male 79.3 (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)
Female 79.1 (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 Black Male 31.1 (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)
Female 34.4 (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 American Male 70.8 (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)
Female 72.0 (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)
rs1805015 C T CC CT TT
Non-Hispanic White Male 15.9 (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)
Female 15.5 (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 Black Male 39.6 (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)
Female 34.3 (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 American Male 15.8 (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)
Female 15.6 (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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Page last reviewed: March 16, 2009 (archived document)