DIYgenomics citizen science experiments - MTHFR Results
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Final study results published December 2010:
A. Genotype results
Participant |
rs1801133 Maj/Min (G/A)
|
rs1801131 Maj/Min (T/G)
|
Maternal Haplogroup |
Paternal Haplogroup |
Ethnicity
(Eur/Asian/African)
|
Gender |
DOB |
Age |
Vegan / Vegetarian
Status
|
Citizen 1 (AV) |
AG |
TT |
J1b1a |
R1b1b2a1a2
|
European
|
Male
|
5/18/1974
|
36 |
Vegan |
Citizen 2 (RM)
|
GG |
GG |
K1c2 |
R1b1b2a1a2*
|
European |
Male |
4/1/1966 |
44 |
n/a |
Citizen 3 (MS)
|
AG |
GT |
K1a |
|
European |
Female |
7/1/1978
|
42 |
Vegetarian |
Citizen 4 (KH)
|
GG |
GT |
K1b2a |
|
European |
Female |
12/25/1963 |
47 |
n/a |
Citizen 5 (CH)
|
GG
|
GT |
H11a |
R1b1b2a1a2f2
|
European
|
Male
|
2/18/1975
|
35 |
n/a |
Citizen 6 (TK) |
AG
|
GT
|
|
|
Japanese
|
Male
|
|
|
n/a
|
Citizen 7 (WR) |
AG |
TT |
J2a1a1 |
R1a1a* |
European |
Male |
5/22/1984 |
26 |
n/a |
Note: Maternal and Paternal Haplogroups are not very indicative of overall ancestry, as they just pinpoint an ancestor from the purely maternal or paternal line. Also, gender can be inferred from lack of a paternal haplogroup report. Self-identified ethnicity may be a better measure.
B. Blood test results

Crossover Study Phases:
1 - Initial wash-out period
2 - Drug store multivitamin (Centrum) only
3 - L-methylfolate only
4 - Drug store multivitamin (Centrum) + L-methylfolate
5 - Final wash-out period
Other possible phases:
* "Mega-dose" multivitamin only (for example: Solgar Vegetarian Multiple)
* Personal vitamin regimen -- will differ, so not good for comparison, but may be useful for individual tracking
1. Homocysteine (in umol/L, reference range: 0.0 - 15.0)
Study Phase
|
1
|
2 |
3 |
4 |
5 |
Citizen 1 (AV)
|
12.6 |
9.3 |
11.2
|
15.9 |
14.2
|
Citizen 2 (RM)
|
6.4 |
9.0 |
7.0
|
7.9 |
8.7 |
Citizen 3 (MS)
|
12.9 |
9.1 |
12
|
12.8 |
9.8
|
Citizen 4 (KH)
|
10.5 |
9.2
|
8.6 |
8.1 |
6.3 |
Citizen 5 (CH)
|
14.1 |
10.6
|
15.2 |
n/a |
18.4 |
Citizen 6 (TK) |
9.6 |
9.0 |
9.4
|
n/a |
n/a |
Citizen 7 (WR) |
6.7 |
5.7 |
8.4 |
n/a |
n/a |
2. Vitamin B12 (in pg/mL, reference range: 211 - 946)
Study Phase
|
1 |
2 |
3 |
4 |
5 |
Citizen 1 (AV)
|
482 |
527 |
501
|
493 |
562
|
Citizen 2 (RM)
|
715 |
594 |
625 |
661 |
n/a |
Citizen 3 (MS)
|
253 |
329 |
312
|
318
|
311
|
Citizen 4 (KH)
|
n/a |
n/a |
n/a |
n/a |
n/a |
Citizen 5 (CH)
|
185 |
209
|
186 |
n/a |
198 |
3. Folate (Folic Acid), Serum (in ng/mL, reference range: >3.0, indeterminate: 2.2 - 3.0; deficient: <2.2)
Study Phase
|
1 |
2 |
3 |
4 |
5 |
Citizen 1 (AV)
|
14.8 |
16.2 |
>20
|
>19.9 |
>19.9
|
Citizen 2 (RM)
|
10.4 |
11.9 |
>19.9 |
>19.9 |
n/a |
Citizen 3 (MS)
|
15.4 |
17.6 |
19.9
|
>19.9
|
18.3
|
Citizen 4 (KH)
|
n/a |
n/a |
n/a |
n/a |
n/a |
Citizen 5 (CH)
|
16.3 |
>19.9
|
>19.9
|
n/a |
>19.9 |
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