MTHFR Allele and Genotype Frequencies
Available polymorphism(s)
rs number
|
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
|
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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