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Maker Faire flyer describing the study
As a proof of concept for DIYgenomics citizen science, this study seeks to replicate and extend existing studies to examine mutations in the MTHFR gene, investigate the potential corresponding phenotype, Vitamin B deficiency and higher homocysteine levels, and determine if vitamin supplementation or other remedies may improve the deficiency. Coordinating investigators: Melanie Swan, Raymond McCauley
B. Methodology and Findings
Genotyping values are sought from citizen science participants. Participants that are homozygous and perhaps heterozygous for risk variants will be asked to take a blood test to assess B deficiency. Questionnaires are employed to ask participants about Vitamin B deficiency. Participants with Vitamin B deficiency may begin a vitamin supplementation program or other remedies which are self-tracked with additional blood tests after 3, 6 and 12 months.
1. Genotype data
SNPs 1&2: Gene mutation: MTHFR (Source: Wikipedia, NIH) Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that in humans is encoded by the MTHFR gene.
SNP 3: Gene mutation: FUT2 (Source: Research Study 2 (below))
Women homozygous for the rs492602[G] allele had higher B12 levels.
Chr/Locus | Gene |
SNP |
Platform | Location |
Genotype values | Normal genotype(s) |
Risk variant(s) | Research study | |
1 | 1p36.3 | MTHFR:677C>T |
rs1801133 |
D,23 |
11778965 | CT | C, CT | TT | 1,4 |
2 | 1p36.3 | MTHFR:1298A>C |
rs1801131 |
D,23,N | 11777063 |
AC | AA, AC(?) | AC(?), CC | 1 |
3 | 19q13.33 | FUT2 |
rs492602 |
D | AG | AA, AG(?) | AG(?), GG | 2 |
Research studies:
Hazra., A. et al. Common Variants of FUT2 are Associated with Plasma Vitamin B12 Levels, Nat Genet. 2008 Oct;40(10):1160-2. Epub 2008 Sep 7. (Nature Genetics paper, PubMed citation, Science Daily article)
Matteini, A.M. et al. Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. J Nutr Health Aging. 2010 Jan;14(1):73-7. (Pubmed citation)
Hacques, P.F. et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 1996 Jan 1;93(1):7-9. (Pubmed citation)
Zittan, E. et al. High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysunction and homocysteinemia. Am J Physiol Heart Circ Physiol 2007 April 20;293:H860-H865. (Link to article)
Relevant Pathways:
1.a. Data Collection: participant genotyping data (how to find and add your data)
Particpant | rs1801133 (D,23) |
rs1801131 (D,23,N) |
rs492602 (D) | Genotyping platform(s) | Study group | Date added | Questionnaire |
Citizen Scientist 100 |
AG | GT | 23andme-original edition | Heterozygous/heterozygous | 2/5/10 | Incomplete | |
Citizen Scientist 101 |
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Citizen Scientist 102 |
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2. Phenotype data: Vitamin B deficiency, Increased Homocysteine levels
Blood tests (US: LabCorp; Canada: LifeLabs)
2.a. Data Collection: participant blood test data
Participant |
Study group | Blood test data | Blood test |
Citizen Scientist 0 | Heterozygous/heterozygous | DirectLabs Vit B12 | |
3. Dietary supplementation
Regimen...
3.a. Data Collection
Custom vitamin supplement ordering (for blinding)