Genomics|Population Research|U.S. Genome Variation Estimates|Frequencies|VDR

U.S. Genome Variation Estimates

VDR Allele and Genotype Frequencies

Available polymorphism(s)

rs number

Common Designations

Nucleotide change Amino acid change

Genotyping method

rs2239185

IVS8-3968C>T

TaqMan

rs731236

Ex11+32T>C

Ile352Ile
(TaqI variant)

MGB Eclipse

Allele and Genotype Frequencies for Subpopulations

By Race/Ethnicity
By Age
By Sex
By Race/Ethnicity and Age
By Race/Ethnicity and Sex

BY RACE/ETHNICITY [top]

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.

BY AGE^* [top]

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.

BY SEX^* [top]

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)	0.597	26.0 (23.2, 29.0)	45.8 (42.7, 48.9)	28.2 (26.0, 30.5)	0.830
	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)	0.625	13.3 (12.1, 14.5)	42.9 (40.7, 45.2)	43.8 (41.5, 46.2)	0.789
	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.

BY RACE/ETHNICITY AND AGE [top]

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 [top]

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)

Page last reviewed: October 21, 2008 (archived document)
Page last updated: October 21, 2008
Content Source: National Office of Public Health Genomics