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U.S. Genome Variation Estimates

MTHFR Allele and Genotype Frequencies

 

Available polymorphism(s)

rs number

Common Designations

Nucleotide change                  Amino acid

Genotyping method

rs1801131

Ex8-62A>C
1298A>C

Glu429Ala

TaqMan

rs1801133

Ex5+79C>T
677C>T

Ala222Val

MGB Eclipse

rs2066470

Ex2-120C>T

Pro39Pro

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‡
rs1801131 A C   AA AC CC    
Non-Hispanic White 68.9 (65.9, 71.8) 31.1 (28.2, 34.1) <0.001 48.2 (44.1, 52.4) 41.3 (38.2, 44.4) 10.5 (8.4, 12.9) <0.001 0.07
Non-Hispanic Black 82.1 (81.1, 83.1) 17.9 (16.9, 18.9) 67.6 (65.9, 69.2) 29.0 (27.4, 30.7) 3.4 (2.7, 4.2) 0.42
Mexican American 81.2 (77.8, 84.2) 18.8 (15.8, 22.2) 66.0 (61.0, 70.6) 30.5 (27.2, 34.1) 3.5 (2.2, 5.6) 0.77
Total* 71.6 (69.2, 73.9) 28.4 (26.1, 30.8)   52.2 (48.8, 55.6) 38.8 (36.1, 41.5) 9.0 (7.4, 10.9)    
rs1801133 C T   CC CT TT    
Non-Hispanic White 67.4 (64.8, 70.0) 32.6 (30.0, 35.2) <0.001 46.4 (42.5, 50.3) 42.1 (38.8, 45.5) 11.5 (9.7, 13.5) <0.001 0.10
Non-Hispanic Black 88.4 (87.5, 89.2) 11.6 (10.8, 12.5) 77.9 (76.2, 79.5) 20.9 (19.2, 22.7) 1.2 (0.7, 1.9) 0.49
Mexican American 55.4 (52.5, 58.3) 44.6 (41.7, 47.5) 30.7 (27.5, 34.1) 49.4 (46.3, 52.5) 19.9 (16.7, 23.5) 0.93
Total* 69.2 (67.2, 71.2) 30.8 (28.8, 32.8)   49.3 (46.3, 52.4) 39.8 (37.2, 42.5) 10.9 (9.4, 12.5)    
rs2066470 C T   CC CT TT    
Non-Hispanic White 90.4 (88.6, 92.0) 9.6 (8.0, 11.4) 0.042 81.9 (78.7, 84.8) 17.0 (14.4, 20.0) 1.1 (0.6, 1.8) 0.057 0.32
Non-Hispanic Black 91.3 (90.0, 92.4) 8.7 (7.6, 10.0) 83.5 (81.2, 85.6) 15.6 (13.6, 17.8) 0.9 (0.5, 1.6) 0.25
Mexican American 93.5 (92.2, 94.6) 6.5 (5.4, 7.8) 87.4 (85.1, 89.5) 12.1 (10.1, 14.4) 0.5 (0.2, 1.2) 0.84
Total* 90.3 (88.9, 91.5) 9.7 (8.5, 11.1)   81.9 (79.4, 84.2) 16.8 (14.7, 19.2) 1.3 (0.9, 1.7)    

* 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
rs1801131 A C   AA AC CC  
12-19 74.8 (71.5, 77.8) 25.2 (22.2, 28.5) 0.030 55.9 (50.7, 61.0) 37.8 (32.9, 42.9) 6.3 (4.4, 9.1) 0.041
20-39 72.5 (69.5, 75.4) 27.5 (24.6, 30.5)   52.7 (48.2, 57.1) 39.7 (35.9, 43.7) 7.6 (5.7, 10.1)  
40-59 69.8 (65.9, 73.4) 30.2 (26.6, 34.1)   51.1 (46.1, 56.1) 37.3 (33.5, 41.4) 11.5 (8.6, 15.2)  
>=60 70.1 (68.2, 72.0) 29.9 (28.0, 31.8)   50.3 (46.7, 54.0) 39.6 (35.4, 44.0) 10.0 (8.4, 12.0)  
Total 71.6 (69.2, 73.9) 28.4 (26.1, 30.8)   52.2 (48.8, 55.6) 38.8 (36.1, 41.5) 9.0 (7.4, 10.9)  
rs1801133 C T   CC CT TT  
12-19 69.3 (64.7, 73.5) 30.7 (26.5, 35.3) 0.764 49.8 (42.5, 57.1) 39.0 (32.2, 46.4) 11.2 (8.4, 14.7) 0.551
20-39 69.9 (67.1, 72.5) 30.1 (27.5, 32.9)   50.4 (46.4, 54.4) 38.9 (35.2, 42.7) 10.7 (8.6, 13.2)  
40-59 69.1 (65.5, 72.5) 30.9 (27.5, 34.5)   49.1 (44.3, 54.0) 40.0 (35.6, 44.6) 10.9 (7.9, 14.7)  
>=60 68.1 (65.1, 70.9) 31.9 (29.1, 34.9)   47.1 (43.5, 50.8) 41.9 (39.2, 44.6) 11.0 (8.6, 13.9)  
Total 69.2 (67.2, 71.2) 30.8 (28.8, 32.8)   49.3 (46.3, 52.4) 39.8 (37.2, 42.5) 10.9 (9.4, 12.5)  
rs2066470 C T   CC CT TT  
12-19 91.3 (88.6, 93.4) 8.7 (6.6, 11.4) 0.017 83.1 (78.0, 87.2) 16.5 (12.5, 21.4) 0.4 (0.1, 1.3) <0.001
20-39 91.7 (89.6, 93.4) 8.3 (6.6, 10.4)   84.2 (80.6, 87.3) 15.0 (12.1, 18.4) 0.8 (0.4, 1.9)  
40-59 89.0 (87.0, 90.8) 11.0 (9.2, 13.0)   80.1 (76.8, 83.0) 17.8 (15.4, 20.6) 2.1 (1.2, 3.5)  
>=60 88.8 (87.2, 90.1) 11.2 (9.9, 12.8)   79.1 (76.0, 81.8) 19.4 (16.4, 22.7) 1.6 (0.9, 2.6)  
Total 90.3 (88.9, 91.5) 9.7 (8.5, 11.1)   81.9 (79.4, 84.2) 16.8 (14.7, 19.2) 1.3 (0.9, 1.7)  

* 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
rs1801131 A C AA AC CC
Male 71.4 (68.0, 74.6) 28.6 (25.4, 32.0) 0.784 52.1 (47.6, 56.7) 38.6 (34.9, 42.4) 9.3 (6.8, 12.6) 0.935
Female 71.8 (69.7, 73.8) 28.2 (26.2, 30.3)   52.3 (49.2, 55.4) 39.0 (36.2, 41.8) 8.7 (7.2, 10.6)  
Total 71.6 (69.2, 73.9) 28.4 (26.1, 30.8)   52.2 (48.8, 55.6) 38.8 (36.1, 41.5) 9.0 (7.4, 10.9)  
rs1801133 C T CC CT TT
Male 69.6 (66.6, 72.5) 30.4 (27.5, 33.4) 0.628 50.2 (45.5, 54.9) 38.8 (34.5, 43.3) 11.0 (8.9, 13.5) 0.731
Female 68.9 (66.7, 70.9) 31.1 (29.1, 33.3)   48.5 (45.4, 51.6) 40.7 (38.1, 43.3) 10.8 (9.2, 12.5)  
Total 69.2 (67.2, 71.2) 30.8 (28.8, 32.8)   49.3 (46.3, 52.4) 39.8 (37.2, 42.5) 10.9 (9.4, 12.5)  
rs2066470 C T CC CT TT
Male 90.2 (88.4, 91.8) 9.8 (8.2, 11.6) 0.777 81.9 (78.6, 84.8) 16.7 (14.0, 19.7) 1.4 (1.0, 2.1) 0.731
Female 90.4 (89.1, 91.6) 9.6 (8.4, 10.9)   81.9 (79.6, 84.0) 17.0 (15.0, 19.2) 1.1 (0.6, 2.0)  
Total 90.3 (88.9, 91.5) 9.7 (8.5, 11.1)   81.9 (79.4, 84.2) 16.8 (14.7, 19.2) 1.3 (0.9, 1.7)  

* 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)
rs1801131 A C AA AC CC
Non-Hispanic White 12-19 72.5 (67.8, 76.9) 27.5 (23.1, 32.2) 52.8 (46.2, 59.2) 39.5 (33.8, 45.5) 7.7 (4.5, 12.8)
20-39 68.9 (64.8, 72.8) 31.1 (27.2, 35.2) 47.0 (41.3, 52.8) 43.8 (39.1, 48.6) 9.2 (6.5, 12.8)
40-59 67.6 (63.7, 71.3) 32.4 (28.7, 36.3) 48.0 (43.0, 53.1) 39.2 (35.1, 43.4) 12.8 (9.7, 16.7)
>=60 68.6 (66.4, 70.6) 31.4 (29.4, 33.6) 48.2 (43.9, 52.4) 40.8 (35.9, 45.9) 11.0 (9.2, 13.1)
Non-Hispanic Black 12-19 82.7 (79.2, 85.8) 17.3 (14.2, 20.8) 68.9 (62.9, 74.3) 27.7 (22.3, 33.8) 3.4 (1.8, 6.5)
20-39 81.7 (79.2, 83.9) 18.3 (16.1, 20.8) 67.1 (62.9, 71.1) 29.1 (25.5, 33.1) 3.7 (2.7, 5.1)
40-59 82.2 (78.8, 85.1) 17.8 (14.9, 21.2) 67.0 (61.5, 72.2) 30.3 (25.6, 35.5) 2.6 (1.3, 5.3)
>=60 82.4 (75.8, 87.5) 17.6 (12.5, 24.2) 68.3 (57.5, 77.5) 28.1 (19.9, 38.1) 3.6 (1.6, 7.6)
Mexican American 12-19 82.9 (76.8, 87.7) 17.1 (12.3, 23.2) 70.6 (62.5, 77.6) 24.7 (19.7, 30.4) 4.8 (2.1, 10.5)
20-39 81.5 (78.4, 84.2) 18.5 (15.8, 21.6) 66.2 (61.5, 70.5) 30.7 (27.0, 34.5) 3.2 (1.7, 5.7)
40-59 79.4 (73.0, 84.6) 20.6 (15.4, 27.0) 62.1 (51.4, 71.7) 34.6 (25.9, 44.5) 3.3 (1.6, 6.5)
>=60 80.1 (77.2, 82.7) 19.9 (17.3, 22.8) 63.6 (58.0, 68.8) 33.0 (26.8, 39.7) 3.4 (1.6, 7.2)
rs1801133 C T CC CT TT
Non-Hispanic White 12-19 67.4 (60.3, 73.8) 32.6 (26.2, 39.7) 46.9 (36.7, 57.3) 41.0 (32.2, 50.4) 12.1 (8.0, 18.0)
20-39 68.4 (64.6, 71.9) 31.6 (28.1, 35.4) 47.7 (41.8, 53.7) 41.4 (35.6, 47.3) 10.9 (8.3, 14.3)
40-59 67.0 (62.7, 71.0) 33.0 (29.0, 37.3) 46.1 (40.8, 51.4) 41.8 (36.7, 47.0) 12.1 (8.3, 17.4)
>=60 66.5 (63.6, 69.3) 33.5 (30.7, 36.4) 44.2 (40.7, 47.9) 44.5 (41.5, 47.6) 11.3 (8.8, 14.4)
Non-Hispanic Black 12-19 87.9 (84.8, 90.5) 12.1 (9.5, 15.2) 77.4 (72.2, 81.8) 21.1 (17.1, 25.8) 1.5 (0.5, 4.3)
20-39 88.3 (86.8, 89.5) 11.7 (10.5, 13.2) 77.7 (75.3, 79.9) 21.2 (19.1, 23.5) 1.1 (0.5, 2.6)
40-59 89.6 (87.2, 91.6) 10.4 (8.4, 12.8) 79.9 (75.7, 83.6) 19.3 (15.8, 23.4) 0.8 (0.2, 3.2)
>=60 87.3 (83.8, 90.1) 12.7 (9.9, 16.2) 76.0 (69.6, 81.3) 22.6 (17.3, 29.0) 1.4 (0.5, 3.9)
Mexican American 12-19 51.9 (46.3, 57.5) 48.1 (42.5, 53.7) 28.4 (22.6, 35.0) 47.0 (37.9, 56.4) 24.6 (17.2, 33.8)
20-39 55.5 (53.2, 57.7) 44.5 (42.3, 46.8) 31.1 (28.1, 34.2) 48.8 (45.5, 52.3) 20.1 (17.7, 22.7)
40-59 58.8 (53.4, 64.1) 41.2 (35.9, 46.6) 33.1 (26.8, 39.9) 51.6 (47.2, 56.0) 15.4 (11.1, 20.8)
>=60 54.5 (51.0, 57.9) 45.5 (42.1, 49.0) 28.2 (23.9, 32.9) 52.7 (46.1, 59.1) 19.2 (14.7, 24.6)
rs2066470 C T CC CT TT
Non-Hispanic White 12-19 92.4 (88.8, 94.9) 7.6 (5.1, 11.2) 84.7 (77.8, 89.8) 15.3 (10.2, 22.2) 0.0 (NA)
20-39 91.5 (88.7, 93.7) 8.5 (6.3, 11.3) 83.9 (79.1, 87.8) 15.2 (11.6, 19.6) 0.9 (0.3, 2.7)
40-59 89.8 (87.8, 91.5) 10.2 (8.5, 12.2) 80.9 (77.5, 83.8) 17.8 (15.1, 20.9) 1.3 (0.7, 2.5)
>=60 88.4 (86.6, 90.0) 11.6 (10.0, 13.4) 78.4 (75.0, 81.5) 19.9 (16.6, 23.8) 1.6 (0.8, 3.2)
Non-Hispanic Black 12-19 90.9 (87.2, 93.5) 9.1 (6.5, 12.8) 82.8 (76.6, 87.7) 16.0 (11.6, 21.8) 1.1 (0.3, 3.7)
20-39 91.6 (90.1, 92.8) 8.4 (7.2, 9.9) 83.6 (80.6, 86.1) 16.0 (13.4, 19.1) 0.4 (0.1, 1.1)
40-59 91.7 (88.8, 93.8) 8.3 (6.2, 11.2) 84.5 (79.6, 88.4) 14.4 (10.8, 18.9) 1.2 (0.4, 3.2)
>=60 90.5 (85.9, 93.7) 9.5 (6.3, 14.1) 82.5 (74.9, 88.2) 15.9 (10.8, 22.7) 1.6 (0.6, 4.2)
Mexican American 12-19 94.3 (91.0, 96.5) 5.7 (3.5, 9.0) 89.6 (84.4, 93.2) 9.5 (6.5, 13.8) 0.9 (0.2, 4.3)
20-39 94.2 (93.0, 95.3) 5.8 (4.7, 7.0) 88.7 (86.2, 90.8) 11.0 (8.9, 13.7) 0.3 (0.1, 1.2)
40-59 91.4 (88.8, 93.5) 8.6 (6.5, 11.2) 83.6 (78.2, 87.9) 15.6 (11.1, 21.5) 0.8 (0.2, 2.8)
>=60 92.3 (90.6, 93.7) 7.7 (6.3, 9.4) 84.6 (81.3, 87.4) 15.4 (12.6, 18.7) 0.0 (NA)

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By Race/Ethnicity and Sex

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1801131 A C AA AC CC
Non-Hispanic White Male 68.6 (64.5, 72.5) 31.4 (27.5, 35.5) 48.3 (42.8, 53.8) 40.7 (36.2, 45.3) 11.0 (7.9, 15.1)
Female 69.1 (66.2, 71.9) 30.9 (28.1, 33.8) 48.2 (44.1, 52.3) 41.9 (38.3, 45.5) 9.9 (7.7, 12.7)
Non-Hispanic Black Male 81.3 (79.4, 83.1) 18.7 (16.9, 20.6) 66.3 (63.3, 69.2) 30.0 (27.5, 32.7) 3.6 (2.6, 5.0)
Female 82.7 (81.3, 84.1) 17.3 (15.9, 18.7) 68.7 (66.1, 71.1) 28.2 (25.7, 30.8) 3.2 (2.3, 4.4)
Mexican American Male 81.6 (78.3, 84.6) 18.4 (15.4, 21.7) 66.0 (60.3, 71.2) 31.3 (26.8, 36.3) 2.7 (1.8, 4.0)
Female 80.8 (76.8, 84.2) 19.2 (15.8, 23.2) 65.9 (60.7, 70.8) 29.6 (26.5, 32.9) 4.4 (2.5, 7.9)
rs1801133 C T CC CT TT
Non-Hispanic White Male 68.4 (64.7, 71.9) 31.6 (28.1, 35.3) 48.0 (42.4, 53.6) 40.8 (35.7, 46.2) 11.2 (8.6, 14.3)
Female 66.5 (63.6, 69.3) 33.5 (30.7, 36.4) 44.8 (40.7, 49.1) 43.4 (39.9, 46.9) 11.8 (9.8, 14.1)
Non-Hispanic Black Male 88.1 (86.3, 89.6) 11.9 (10.4, 13.7) 77.3 (74.0, 80.3) 21.5 (18.4, 24.9) 1.2 (0.6, 2.4)
Female 88.7 (87.6, 89.7) 11.3 (10.3, 12.4) 78.4 (76.3, 80.4) 20.5 (18.3, 22.8) 1.1 (0.6, 2.0)
Mexican American Male 54.8 (50.6, 58.9) 45.2 (41.1, 49.4) 29.3 (25.7, 33.2) 50.9 (47.2, 54.6) 19.8 (15.1, 25.5)
Female 56.1 (53.9, 58.3) 43.9 (41.7, 46.1) 32.2 (28.7, 35.9) 47.8 (43.9, 51.8) 20.0 (18.0, 22.2)
rs2066470 C T CC CT TT
Non-Hispanic White Male 90.0 (87.6, 92.0) 10.0 (8.0, 12.4) 81.3 (77.0, 85.0) 17.4 (13.9, 21.4) 1.3 (0.7, 2.4)
Female 90.9 (89.2, 92.3) 9.1 (7.7, 10.8) 82.5 (79.6, 85.1) 16.7 (14.2, 19.5) 0.8 (0.3, 1.9)
Non-Hispanic Black Male 92.2 (90.6, 93.6) 7.8 (6.4, 9.4) 84.9 (81.8, 87.6) 14.6 (12.0, 17.7) 0.5 (0.2, 1.2)
Female 90.5 (88.6, 92.2) 9.5 (7.8, 11.4) 82.3 (79.0, 85.2) 16.4 (13.7, 19.5) 1.2 (0.6, 2.7)
Mexican American Male 93.6 (91.9, 94.9) 6.4 (5.1, 8.1) 87.7 (84.7, 90.1) 11.8 (9.5, 14.6) 0.6 (0.2, 1.9)
Female 93.4 (91.5, 94.9) 6.6 (5.1, 8.5) 87.2 (83.4, 90.3) 12.4 (9.3, 16.3) 0.4 (0.1, 1.4)


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