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U.S. Genome Variation Estimates

IL4 Allele and Genotype Frequencies

 

Available polymorphism(s)

rs number

Common Designations

Nucleotide change                  Amino acid

Genotyping method

rs2243248

-1098T>G

 

TaqMan

rs2243250

-588C>T
-524C>T
-590C>T

 

TaqMan

rs2243270

IVS2-1297A>G

 

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‡
rs2243248 G T   GG GT TT    
Non-Hispanic White 7.5 (6.7, 8.4) 92.5 (91.6, 93.3) <0.001 0.4 (0.2, 0.8) 14.1 (12.7, 15.7) 85.4 (83.7, 87.0) <0.001 0.68
Non-Hispanic Black 15.7 (14.3, 17.3) 84.3 (82.7, 85.7) 2.5 (1.7, 3.5) 26.6 (24.3, 29.0) 71.0 (68.3, 73.5) 0.46
Mexican American 12.0 (10.0, 14.4) 88.0 (85.6, 90.0) 1.9 (1.3, 2.8) 20.3 (17.1, 23.9) 77.8 (73.7, 81.4) 0.03
Total* 9.0 (8.1, 9.9) 91.0 (90.1, 91.9)   0.8 (0.6, 1.1) 16.3 (14.8, 18.0) 82.9 (81.1, 84.5)    
rs2243250 C T   CC CT TT    
Non-Hispanic White 84.0 (82.7, 85.2) 16.0 (14.8, 17.3) <0.001 70.8 (68.9, 72.6) 26.4 (24.9, 28.0) 2.8 (2.0, 4.0) <0.001 0.53
Non-Hispanic Black 36.0 (34.2, 37.9) 64.0 (62.1, 65.8) 14.1 (12.3, 16.2) 43.8 (41.0, 46.7) 42.0 (39.4, 44.7) 0.03
Mexican American 57.7 (55.6, 59.8) 42.3 (40.2, 44.4) 34.3 (30.9, 37.8) 46.9 (43.3, 50.5) 18.9 (17.1, 20.7) 0.07
Total* 74.5 (72.7, 76.2) 25.5 (23.8, 27.3)   58.9 (56.6, 61.1) 31.2 (29.6, 32.9) 9.9 (8.6, 11.4)    
rs2243270 A G   AA AG GG    
Non-Hispanic White 83.6 (82.4, 84.8) 16.4 (15.2, 17.6) <0.001 69.9 (68.1, 71.7) 27.4 (25.8, 29.1) 2.6 (1.8, 3.8) <0.001 0.71
Non-Hispanic Black 36.3 (34.6, 38.1) 63.7 (61.9, 65.4) 14.5 (13.4, 15.8) 43.5 (40.4, 46.7) 41.9 (38.9, 45.0) 0.01
Mexican American 58.2 (55.7, 60.7) 41.8 (39.3, 44.3) 34.9 (31.5, 38.6) 46.6 (43.3, 49.9) 18.5 (16.2, 21.0) 0.08
Total* 74.3 (72.4, 76.0) 25.7 (24.0, 27.6)   58.3 (55.9, 60.7) 31.8 (30.1, 33.6) 9.8 (8.4, 11.4)    

* 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
rs2243248 G T   GG GT TT  
12-19 9.9 (8.1, 11.9) 90.1 (88.1, 91.9) 0.114 1.1 (0.4, 3.2) 17.5 (15.1, 20.1) 81.4 (78.2, 84.2) 0.045
20-39 9.5 (7.9, 11.2) 90.5 (88.8, 92.1) 0.7 (0.5, 1.0) 17.4 (14.6, 20.7) 81.8 (78.5, 84.8)
40-59 9.2 (7.6, 11.0) 90.8 (89.0, 92.4) 0.9 (0.5, 1.8) 16.4 (13.6, 19.7) 82.6 (79.3, 85.6)
>=60 7.2 (6.0, 8.5) 92.8 (91.5, 94.0) 0.5 (0.2, 1.2) 13.2 (11.2, 15.6) 86.2 (83.8, 88.3)
Total 9.0 (8.1, 9.9) 91.0 (90.1, 91.9)   0.8 (0.6, 1.1) 16.3 (14.8, 18.0) 82.9 (81.1, 84.5)  
rs2243250 C T   CC CT TT  
12-19 71.7 (67.8, 75.4) 28.3 (24.6, 32.2) 0.015 54.9 (49.9, 59.9) 33.6 (29.6, 37.8) 11.5 (8.4, 15.5) 0.079
20-39 73.0 (70.0, 75.9) 27.0 (24.1, 30.0) 57.3 (53.1, 61.4) 31.5 (28.5, 34.8) 11.2 (9.2, 13.6)
40-59 76.1 (73.4, 78.5) 23.9 (21.5, 26.6) 61.2 (57.1, 65.1) 29.8 (26.1, 33.7) 9.0 (7.2, 11.4)
>=60 77.1 (75.3, 78.7) 22.9 (21.3, 24.7) 61.5 (58.9, 64.1) 31.1 (28.3, 33.9) 7.4 (5.9, 9.2)
Total 74.5 (72.7, 76.2) 25.5 (23.8, 27.3)   58.9 (56.6, 61.1) 31.2 (29.6, 32.9) 9.9 (8.6, 11.4)  
rs2243270 A G   AA AG GG  
12-19 71.4 (67.5, 75.0) 28.6 (25.0, 32.5) 0.016 54.3 (49.5, 59.0) 34.3 (30.4, 38.4) 11.4 (8.2, 15.7) 0.100
20-39 72.8 (69.5, 75.8) 27.2 (24.2, 30.5) 56.9 (52.4, 61.2) 31.7 (28.7, 34.9) 11.4 (9.3, 13.9)
40-59 76.0 (73.3, 78.5) 24.0 (21.5, 26.7) 60.7 (56.2, 65.1) 30.5 (26.2, 35.3) 8.8 (6.9, 11.1)
>=60 76.8 (74.9, 78.6) 23.2 (21.4, 25.1) 60.7 (57.7, 63.6) 32.2 (29.3, 35.3) 7.1 (5.5, 8.9)
Total 74.3 (72.4, 76.0) 25.7 (24.0, 27.6)   58.3 (55.9, 60.7) 31.8 (30.1, 33.6) 9.8 (8.4, 11.4)  

* 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
rs2243248 G T   GG GT TT  
Male 9.3 (8.3, 10.6) 90.7 (89.4, 91.7) 0.202 0.7 (0.4, 1.2) 17.3 (15.1, 19.7) 82.0 (79.6, 84.2) 0.315
Female 8.6 (7.6, 9.7) 91.4 (90.3, 92.4) 0.9 (0.5, 1.6) 15.4 (13.8, 17.2) 83.7 (81.7, 85.4)
Total 9.0 (8.1, 9.9) 91.0 (90.1, 91.9)   0.8 (0.6, 1.1) 16.3 (14.8, 18.0) 82.9 (81.1, 84.5)  
rs2243250 C T   CC CT TT  
Male 75.2 (72.9, 77.3) 24.8 (22.7, 27.1) 0.112 59.7 (56.3, 63.0) 31.0 (28.5, 33.8) 9.3 (7.9, 10.9) 0.095
Female 73.8 (72.2, 75.4) 26.2 (24.6, 27.8) 58.1 (55.7, 60.5) 31.4 (29.0, 33.9) 10.5 (9.0, 12.2)
Total 74.5 (72.7, 76.2) 25.5 (23.8, 27.3)   58.9 (56.6, 61.1) 31.2 (29.6, 32.9) 9.9 (8.6, 11.4)  
rs2243270 A G   AA AG GG  
Male 74.9 (72.6, 77.2) 25.1 (22.8, 27.4) 0.156 59.2 (55.6, 62.6) 31.6 (28.8, 34.4) 9.3 (7.9, 10.9) 0.217
Female 73.6 (71.9, 75.3) 26.4 (24.7, 28.1) 57.6 (55.2, 60.0) 32.1 (29.8, 34.5) 10.3 (8.7, 12.2)
Total 74.3 (72.4, 76.0) 25.7 (24.0, 27.6)   58.3 (55.9, 60.7) 31.8 (30.1, 33.6) 9.8 (8.4, 11.4)  

* 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)
rs2243248 G T GG GT TT
Non-Hispanic White 12-19 8.3 (5.9, 11.6) 91.7 (88.4, 94.1) 0.8 (0.1, 7.1) 15.1 (12.1, 18.6) 84.2 (79.5, 87.9)
20-39 7.5 (5.9, 9.4) 92.5 (90.6, 94.1) 0.3 (0.1, 0.7) 14.4 (11.3, 18.1) 85.3 (81.6, 88.4)
40-59 8.6 (6.9, 10.7) 91.4 (89.3, 93.1) 0.5 (0.1, 2.1) 16.2 (13.1, 19.9) 83.3 (79.5, 86.5)
>=60 5.7 (4.7, 6.8) 94.3 (93.2, 95.3) 0.4 (0.1, 1.3) 10.4 (8.7, 12.5) 89.1 (87.0, 90.9)
Non-Hispanic Black 12-19 16.1 (12.2, 21.1) 83.9 (78.9, 87.8) 2.7 (1.3, 5.3) 26.9 (21.4, 33.2) 70.4 (62.6, 77.2)
20-39 16.7 (15.4, 18.0) 83.3 (82.0, 84.6) 2.5 (1.7, 3.7) 28.3 (26.0, 30.7) 69.2 (66.9, 71.4)
40-59 13.7 (11.1, 16.9) 86.3 (83.1, 88.9) 2.7 (1.1, 6.1) 22.2 (18.0, 27.1) 75.2 (70.2, 79.5)
>=60 16.0 (12.5, 20.1) 84.0 (79.9, 87.5) 1.7 (0.5, 5.1) 28.6 (22.3, 35.9) 69.7 (62.4, 76.2)
Mexican American 12-19 10.4 (6.8, 15.5) 89.6 (84.5, 93.2) 1.8 (0.8, 3.9) 17.1 (11.4, 24.8) 81.1 (72.4, 87.5)
20-39 13.7 (10.8, 17.1) 86.3 (82.9, 89.2) 1.7 (0.7, 4.2) 23.9 (20.0, 28.3) 74.4 (69.0, 79.1)
40-59 11.2 (8.5, 14.5) 88.8 (85.5, 91.5) 2.5 (1.0, 6.0) 17.4 (14.2, 21.2) 80.1 (75.4, 84.1)
>=60 8.4 (6.1, 11.5) 91.6 (88.5, 93.9) 1.6 (0.8, 3.3) 13.7 (10.0, 18.3) 84.7 (79.5, 88.8)
rs2243250 C T CC CT TT
Non-Hispanic White 12-19 83.4 (79.5, 86.6) 16.6 (13.4, 20.5) 69.4 (62.4, 75.6) 27.9 (21.7, 35.2) 2.7 (1.2, 5.9)
20-39 84.3 (82.1, 86.3) 15.7 (13.7, 17.9) 72.1 (68.6, 75.4) 24.4 (21.0, 28.1) 3.5 (2.1, 5.8)
40-59 84.2 (81.4, 86.6) 15.8 (13.4, 18.6) 70.5 (65.9, 74.7) 27.4 (23.7, 31.5) 2.1 (1.2, 3.9)
>=60 83.6 (81.3, 85.6) 16.4 (14.4, 18.7) 69.8 (65.8, 73.5) 27.6 (24.2, 31.4) 2.6 (1.7, 3.9)
Non-Hispanic Black 12-19 38.2 (34.6, 42.0) 61.8 (58.0, 65.4) 16.7 (13.6, 20.4) 43.0 (37.2, 49.1) 40.2 (34.6, 46.1)
20-39 35.5 (32.9, 38.2) 64.5 (61.8, 67.1) 13.1 (10.6, 16.0) 44.9 (40.4, 49.4) 42.0 (38.0, 46.2)
40-59 34.9 (31.7, 38.1) 65.1 (61.9, 68.3) 13.6 (10.4, 17.7) 42.5 (37.8, 47.3) 43.9 (39.7, 48.2)
>=60 36.8 (31.9, 42.0) 63.2 (58.0, 68.1) 14.7 (9.9, 21.2) 44.2 (38.9, 49.7) 41.1 (35.3, 47.1)
Mexican American 12-19 60.0 (56.8, 63.2) 40.0 (36.8, 43.2) 36.5 (32.9, 40.3) 47.1 (39.5, 54.8) 16.4 (11.2, 23.5)
20-39 56.3 (52.5, 60.0) 43.7 (40.0, 47.5) 32.5 (26.3, 39.5) 47.5 (41.3, 53.7) 20.0 (18.2, 21.9)
40-59 58.6 (54.1, 63.0) 41.4 (37.0, 45.9) 35.5 (28.8, 42.8) 46.2 (37.3, 55.3) 18.3 (13.3, 24.6)
>=60 58.5 (53.6, 63.3) 41.5 (36.7, 46.4) 36.3 (31.0, 42.0) 44.5 (37.8, 51.3) 19.2 (13.7, 26.4)
rs2243270 A G AA AG GG
Non-Hispanic White 12-19 83.3 (79.6, 86.4) 16.7 (13.6, 20.4) 68.9 (61.8, 75.2) 28.7 (22.0, 36.5) 2.4 (1.0, 5.6)
20-39 83.9 (81.7, 85.8) 16.1 (14.2, 18.3) 71.1 (67.9, 74.1) 25.5 (22.6, 28.6) 3.4 (2.0, 5.7)
40-59 83.9 (81.0, 86.4) 16.1 (13.6, 19.0) 69.8 (64.6, 74.5) 28.1 (23.6, 33.2) 2.0 (1.2, 3.5)
>=60 83.2 (80.6, 85.5) 16.8 (14.5, 19.4) 68.6 (64.3, 72.6) 29.1 (25.5, 32.9) 2.3 (1.3, 4.0)
Non-Hispanic Black 12-19 36.9 (33.4, 40.7) 63.1 (59.3, 66.6) 14.8 (11.6, 18.8) 44.3 (39.4, 49.2) 40.9 (36.0, 46.1)
20-39 35.8 (32.8, 38.9) 64.2 (61.1, 67.2) 14.7 (12.7, 16.8) 42.2 (38.4, 46.2) 43.1 (38.5, 47.8)
40-59 35.7 (32.7, 38.9) 64.3 (61.1, 67.3) 13.5 (10.8, 16.6) 44.5 (37.2, 52.1) 42.0 (35.9, 48.3)
>=60 38.2 (33.5, 43.1) 61.8 (56.9, 66.5) 15.8 (11.2, 21.8) 44.8 (36.9, 53.0) 39.4 (32.5, 46.8)
Mexican American 12-19 60.5 (57.4, 63.5) 39.5 (36.5, 42.6) 37.1 (34.1, 40.2) 46.8 (39.7, 54.0) 16.1 (11.0, 22.9)
20-39 57.0 (53.1, 60.9) 43.0 (39.1, 46.9) 33.4 (27.3, 40.2) 47.2 (41.6, 52.8) 19.4 (17.5, 21.4)
40-59 59.0 (54.3, 63.6) 41.0 (36.4, 45.7) 35.9 (29.1, 43.2) 46.3 (38.1, 54.7) 17.9 (13.2, 23.8)
>=60 58.1 (52.7, 63.3) 41.9 (36.7, 47.3) 36.6 (31.3, 42.3) 43.1 (34.8, 51.8) 20.4 (13.5, 29.4)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs2243248 G T GG GT TT
Non-Hispanic White Male 8.5 (7.4, 9.7) 91.5 (90.3, 92.6) 0.5 (0.2, 1.3) 16.0 (13.6, 18.7) 83.5 (81.0, 85.8)
Female 6.6 (5.8, 7.5) 93.4 (92.5, 94.2) 0.4 (0.1, 1.4) 12.3 (10.9, 14.0) 87.2 (85.6, 88.7)
Non-Hispanic Black Male 15.8 (14.2, 17.6) 84.2 (82.4, 85.8) 2.5 (1.5, 4.1) 26.7 (23.8, 29.8) 70.8 (67.8, 73.7)
Female 15.7 (13.9, 17.7) 84.3 (82.3, 86.1) 2.5 (1.6, 3.9) 26.4 (23.3, 29.7) 71.1 (67.7, 74.3)
Mexican American Male 12.0 (10.2, 14.2) 88.0 (85.8, 89.8) 1.4 (0.9, 2.2) 21.2 (18.2, 24.6) 77.3 (73.6, 80.7)
Female 12.0 (9.4, 15.2) 88.0 (84.8, 90.6) 2.4 (1.4, 4.1) 19.3 (15.6, 23.7) 78.3 (73.1, 82.7)
rs2243250 C T CC CT TT
Non-Hispanic White Male 84.4 (82.4, 86.1) 15.6 (13.9, 17.6) 71.4 (68.3, 74.4) 25.8 (22.9, 29.0) 2.7 (1.6, 4.7)
Female 83.7 (82.0, 85.2) 16.3 (14.8, 18.0) 70.2 (67.4, 72.8) 27.0 (24.5, 29.6) 2.9 (1.9, 4.2)
Non-Hispanic Black Male 35.2 (31.6, 38.9) 64.8 (61.1, 68.4) 13.4 (10.4, 16.9) 43.6 (39.7, 47.6) 43.0 (38.3, 47.9)
Female 36.8 (34.3, 39.3) 63.2 (60.7, 65.7) 14.8 (12.5, 17.3) 44.0 (40.3, 47.8) 41.2 (37.5, 45.0)
Mexican American Male 57.1 (54.2, 60.0) 42.9 (40.0, 45.8) 32.6 (27.4, 38.2) 49.0 (43.1, 54.9) 18.4 (16.2, 20.9)
Female 58.4 (56.7, 60.1) 41.6 (39.9, 43.3) 36.1 (33.9, 38.3) 44.6 (42.1, 47.2) 19.3 (17.4, 21.4)
rs2243270 A G AA AG GG
Non-Hispanic White Male 84.0 (82.1, 85.9) 16.0 (14.1, 17.9) 70.8 (67.5, 73.8) 26.5 (23.4, 29.9) 2.7 (1.5, 4.8)
Female 83.2 (81.7, 84.7) 16.8 (15.3, 18.3) 69.1 (66.5, 71.6) 28.3 (25.9, 30.8) 2.6 (1.8, 3.8)
Non-Hispanic Black Male 35.0 (32.0, 38.1) 65.0 (61.9, 68.0) 13.4 (11.1, 16.0) 43.3 (39.0, 47.7) 43.3 (38.7, 48.1)
Female 37.4 (35.2, 39.6) 62.6 (60.4, 64.8) 15.5 (13.6, 17.7) 43.7 (40.4, 47.1) 40.8 (37.5, 44.1)
Mexican American Male 57.7 (54.3, 61.1) 42.3 (38.9, 45.7) 33.5 (28.5, 38.9) 48.5 (43.7, 53.3) 18.0 (15.5, 20.9)
Female 58.8 (56.7, 60.8) 41.2 (39.2, 43.3) 36.5 (34.1, 39.0) 44.6 (41.9, 47.2) 18.9 (16.6, 21.5)


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