MTHFR Allele and Genotype Frequencies
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Available polymorphism(s)
|
rs number |
Common Designations
Nucleotide change Amino acid |
Genotyping method |
|
|---|---|---|---|
|
rs1801131 |
Ex8-62A>C |
Glu429Ala |
TaqMan |
|
rs1801133 |
Ex5+79C>T |
Ala222Val |
MGB Eclipse |
|
rs2066470 |
Ex2-120C>T |
Pro39Pro |
MGB Eclipse |
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.
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.
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.
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) | ||
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) | ||
- Page last reviewed: March 16, 2009 (archived document)
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