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U.S. Genome Variation Estimates

VDR Allele and Genotype Frequencies

 

Available polymorphism(s)

rs number

Common Designations

Genotyping method

Nucleotide change Amino acid

rs2239185

IVS8-3968C>T

 

TaqMan

rs731236

Ex11+32T>C

Ile352Ile
(TaqI variant)

MGB Eclipse



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‡
rs2239185 C T   CC CT TT    
Non-Hispanic White 47.8 (45.2, 50.5) 52.2 (49.5, 54.8) <0.001 25.5 (22.0, 29.3) 44.7 (41.5, 48.0) 29.8 (27.4, 32.4) <0.001 <0.01
Non-Hispanic Black 42.9 (41.2, 44.6) 57.1 (55.4, 58.8) 18.2 (16.3, 20.3) 49.4 (46.3, 52.5) 32.4 (29.8, 35.0) 0.98
Mexican American 58.2 (55.1, 61.3) 41.8 (38.7, 44.9) 34.1 (31.0, 37.4) 48.2 (46.0, 50.4) 17.7 (14.6, 21.3) 0.85
Total* 49.3 (47.4, 51.1) 50.7 (48.9, 52.6)   26.5 (23.8, 29.3) 45.6 (42.8, 48.4) 27.9 (26.2, 29.8)    
rs731236 C T   CC CT TT    
Non-Hispanic White 38.1 (36.0, 40.3) 61.9 (59.7, 64.0) <0.001 15.6 (14.1, 17.1) 45.1 (42.5, 47.7) 39.4 (36.2, 42.7) <0.001 0.12
Non-Hispanic Black 28.2 (26.8, 29.6) 71.8 (70.4, 73.2) 7.2 (6.2, 8.4) 41.9 (39.7, 44.1) 50.8 (48.6, 53.1) 0.26
Mexican American 23.8 (21.6, 26.1) 76.2 (73.9, 78.4) 4.9 (3.7, 6.5) 37.8 (35.3, 40.3) 57.3 (53.9, 60.6) 0.22
Total* 34.5 (32.9, 36.0) 65.5 (64.0, 67.1)   13.0 (11.8, 14.2) 43.0 (40.9, 45.1) 44.1 (41.7, 46.4)    

* 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
rs2239185 C T   CC CT TT  
12-19 47.7 (41.6, 53.8) 52.3 (46.2, 58.4) 0.152 25.3 (18.9, 33.1) 44.7 (40.1, 49.4) 30.0 (24.3, 36.2) 0.090
20-39 51.4 (49.5, 53.4) 48.6 (46.6, 50.5) 28.1 (25.1, 31.3) 46.6 (42.7, 50.5) 25.3 (23.0, 27.8)
40-59 48.3 (45.5, 51.1) 51.7 (48.9, 54.5) 26.2 (22.5, 30.3) 44.1 (39.2, 49.1) 29.7 (26.2, 33.3)
>=60 47.5 (44.9, 50.1) 52.5 (49.9, 55.1) 24.3 (21.2, 27.7) 46.4 (42.9, 49.9) 29.3 (26.5, 32.3)
Total 49.3 (47.4, 51.1) 50.7 (48.9, 52.6)   26.5 (23.8, 29.3) 45.6 (42.8, 48.4) 27.9 (26.2, 29.8)  
rs731236 C T   CC CT TT  
12-19 32.9 (27.6, 38.7) 67.1 (61.3, 72.4) 0.128 12.0 (9.0, 15.8) 41.9 (35.2, 48.8) 46.1 (37.7, 54.8) 0.089
20-39 32.8 (31.2, 34.6) 67.2 (65.4, 68.8) 11.7 (10.1, 13.4) 42.3 (39.4, 45.3) 46.0 (43.3, 48.7)
40-59 36.1 (33.7, 38.5) 63.9 (61.5, 66.3) 14.7 (12.0, 18.0) 42.7 (38.8, 46.7) 42.5 (39.3, 45.8)
>=60 36.4 (34.0, 38.9) 63.6 (61.1, 66.0) 13.7 (11.1, 16.7) 45.5 (42.3, 48.7) 40.8 (37.8, 43.9)
Total 34.5 (32.9, 36.0) 65.5 (64.0, 67.1)   13.0 (11.8, 14.2) 43.0 (40.9, 45.1) 44.1 (41.7, 46.4)  

* 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
rs2239185 C T   CC CT TT  
Male 49.6 (47.1, 52.1) 50.4 (47.9, 52.9) 0.597 26.9 (23.7, 30.4) 45.4 (41.9, 48.9) 27.7 (25.1, 30.5) 0.830
Female 48.9 (46.9, 51.0) 51.1 (49.0, 53.1) 26.0 (23.2, 29.0) 45.8 (42.7, 48.9) 28.2 (26.0, 30.5)
Total 49.3 (47.4, 51.1) 50.7 (48.9, 52.6)   26.5 (23.8, 29.3) 45.6 (42.8, 48.4) 27.9 (26.2, 29.8)  
rs731236 C T   CC CT TT  
Male 34.2 (31.9, 36.5) 65.8 (63.5, 68.1) 0.625 12.7 (11.0, 14.5) 43.0 (40.3, 45.8) 44.3 (41.0, 47.6) 0.789
Female 34.7 (33.2, 36.2) 65.3 (63.8, 66.8) 13.3 (12.1, 14.5) 42.9 (40.7, 45.2) 43.8 (41.5, 46.2)
Total 34.5 (32.9, 36.0) 65.5 (64.0, 67.1)   13.0 (11.8, 14.2) 43.0 (40.9, 45.1) 44.1 (41.7, 46.4)  

* 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)
rs2239185 C T CC CT TT
Non-Hispanic White 12-19 45.6 (37.0, 54.4) 54.4 (45.6, 63.0) 24.7 (16.2, 35.7) 41.7 (35.2, 48.6) 33.6 (25.2, 43.1)
20-39 50.0 (47.2, 52.8) 50.0 (47.2, 52.8) 26.8 (23.0, 31.0) 46.4 (41.7, 51.0) 26.8 (23.8, 30.1)
40-59 47.3 (43.6, 51.0) 52.7 (49.0, 56.4) 25.6 (21.0, 30.8) 43.4 (37.8, 49.2) 31.0 (26.8, 35.5)
>=60 46.3 (42.9, 49.6) 53.7 (50.4, 57.1) 23.6 (19.9, 27.8) 45.3 (41.9, 48.8) 31.1 (27.7, 34.7)
Non-Hispanic Black 12-19 41.2 (37.4, 45.0) 58.8 (55.0, 62.6) 16.7 (13.3, 20.7) 49.0 (44.8, 53.1) 34.4 (29.6, 39.4)
20-39 43.4 (40.7, 46.1) 56.6 (53.9, 59.3) 18.3 (15.0, 22.1) 50.2 (46.2, 54.2) 31.5 (28.4, 34.8)
40-59 41.0 (38.0, 44.2) 59.0 (55.8, 62.0) 16.2 (13.5, 19.4) 49.5 (42.8, 56.3) 34.2 (28.7, 40.2)
>=60 47.2 (43.2, 51.3) 52.8 (48.7, 56.8) 23.6 (18.7, 29.2) 47.3 (40.3, 54.4) 29.1 (23.9, 35.0)
Mexican American 12-19 56.9 (50.8, 62.8) 43.1 (37.2, 49.2) 33.3 (25.6, 42.1) 47.1 (40.9, 53.3) 19.6 (15.3, 24.8)
20-39 57.9 (55.6, 60.1) 42.1 (39.9, 44.4) 32.6 (29.3, 36.1) 50.5 (46.4, 54.6) 16.9 (14.4, 19.7)
40-59 60.6 (54.8, 66.2) 39.4 (33.8, 45.2) 38.6 (32.2, 45.4) 44.1 (38.3, 50.1) 17.3 (11.9, 24.5)
>=60 57.3 (50.7, 63.7) 42.7 (36.3, 49.3) 33.7 (26.6, 41.6) 47.2 (40.2, 54.3) 19.1 (12.8, 27.5)
rs731236 C T CC CT TT
Non-Hispanic White 12-19 38.2 (30.5, 46.6) 61.8 (53.4, 69.5) 16.7 (11.5, 23.6) 43.1 (35.8, 50.7) 40.2 (29.8, 51.6)
20-39 36.6 (34.3, 38.9) 63.4 (61.1, 65.7) 14.3 (12.3, 16.6) 44.5 (40.3, 48.9) 41.1 (37.3, 45.1)
40-59 39.3 (36.5, 42.1) 60.7 (57.9, 63.5) 16.8 (13.9, 20.2) 44.9 (39.8, 50.0) 38.3 (34.1, 42.7)
>=60 39.0 (36.0, 42.2) 61.0 (57.8, 64.0) 15.4 (12.2, 19.2) 47.2 (43.4, 51.1) 37.3 (33.6, 41.2)
Non-Hispanic Black 12-19 25.8 (22.9, 29.0) 74.2 (71.0, 77.1) 4.4 (2.4, 7.8) 43.0 (40.0, 46.0) 52.7 (48.6, 56.7)
20-39 28.6 (26.4, 30.8) 71.4 (69.2, 73.6) 7.8 (6.4, 9.4) 41.6 (38.6, 44.6) 50.6 (47.2, 54.1)
40-59 29.7 (26.6, 33.0) 70.3 (67.0, 73.4) 8.1 (6.3, 10.5) 43.1 (37.7, 48.7) 48.7 (43.2, 54.3)
>=60 27.4 (24.1, 31.0) 72.6 (69.0, 75.9) 7.8 (5.6, 10.6) 39.3 (33.8, 45.2) 52.9 (47.0, 58.7)
Mexican American 12-19 23.5 (20.4, 27.0) 76.5 (73.0, 79.6) 5.2 (3.3, 8.1) 36.7 (32.6, 41.1) 58.1 (53.1, 63.0)
20-39 24.1 (21.4, 27.1) 75.9 (72.9, 78.6) 4.7 (3.3, 6.6) 38.9 (35.4, 42.4) 56.5 (51.9, 60.9)
40-59 23.1 (19.8, 26.8) 76.9 (73.2, 80.2) 4.4 (2.3, 8.3) 37.4 (32.4, 42.6) 58.2 (52.7, 63.5)
>=60 24.3 (20.1, 29.1) 75.7 (70.9, 79.9) 7.1 (4.2, 11.7) 34.5 (29.6, 39.6) 58.4 (52.0, 64.6)

 

By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs2239185 C T CC CT TT
Non-Hispanic White Male 48.2 (45.0, 51.5) 51.8 (48.5, 55.0) 26.0 (21.8, 30.6) 44.5 (40.2, 48.9) 29.5 (26.3, 33.0)
Female 47.5 (44.5, 50.5) 52.5 (49.5, 55.5) 25.0 (21.3, 29.2) 44.9 (41.3, 48.6) 30.1 (27.1, 33.1)
Non-Hispanic Black Male 42.4 (40.5, 44.3) 57.6 (55.7, 59.5) 16.4 (14.9, 18.0) 52.0 (47.7, 56.3) 31.6 (27.9, 35.5)
Female 43.3 (40.7, 46.0) 56.7 (54.0, 59.3) 19.7 (16.4, 23.5) 47.2 (43.8, 50.7) 33.1 (30.5, 35.7)
Mexican American Male 58.2 (54.7, 61.6) 41.8 (38.4, 45.3) 34.5 (30.9, 38.4) 47.3 (44.4, 50.3) 18.1 (14.8, 22.1)
Female 58.2 (54.6, 61.7) 41.8 (38.3, 45.4) 33.7 (29.8, 37.8) 49.1 (46.2, 52.0) 17.2 (13.9, 21.2)
rs731236 C T CC CT TT
Non-Hispanic White Male 37.5 (34.7, 40.4) 62.5 (59.6, 65.3) 15.2 (13.2, 17.3) 44.6 (41.1, 48.2) 40.2 (36.0, 44.6)
Female 38.7 (36.5, 41.0) 61.3 (59.0, 63.5) 16.0 (14.3, 17.7) 45.5 (42.5, 48.5) 38.5 (35.2, 42.0)
Non-Hispanic Black Male 28.6 (26.4, 30.9) 71.4 (69.1, 73.6) 7.2 (5.2, 9.9) 42.8 (39.7, 46.1) 50.0 (46.8, 53.1)
Female 27.8 (25.7, 30.0) 72.2 (70.0, 74.3) 7.3 (6.0, 8.8) 41.1 (37.8, 44.6) 51.6 (48.0, 55.2)
Mexican American Male 23.5 (21.0, 26.2) 76.5 (73.8, 79.0) 4.8 (3.4, 6.7) 37.5 (34.3, 40.9) 57.7 (53.6, 61.7)
Female 24.1 (21.6, 26.7) 75.9 (73.3, 78.4) 5.1 (3.7, 6.9) 38.0 (35.0, 41.2) 56.9 (53.0, 60.7)

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