DIYgenomics citizen science research studies - MTHFR mutations and Vitamin B deficiency

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Maker Faire flyer describing the study

Study protocol


SNPedia link


A. Background

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
Platform Location
Genotype values Normal genotype(s)
Risk variant(s) Research study
1 1p36.3 MTHFR:677C>T



11778965 CT C, CT TT 1,4
2 1p36.3 MTHFR:1298A>C


D,23,N 11777063 
AC AA, AC(?) AC(?), CC 1
3 19q13.33 FUT2


D   AG AA, AG(?) AG(?), GG 2


Research studies: 

  1. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function (clinical study in progress (July 2008 - July 2010))
  2. 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)

  3. 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)

  4. 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)

  5. Tanaka, T. et al. Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations, The American Journal of Human Genetics. 2009 Apr 10;84:477-482. (Pubmed citation)
  6. 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. One Carbon Metabolism (Simple Schematic, Wikipathways Schematic)



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
Citizen Scientist 102


2. Phenotype data: Vitamin B deficiency, Increased Homocysteine levels

Blood tests (US: LabCorp; Canada: LifeLabs)


2.a. Data Collection: participant blood test data 

Study group Blood test data Blood test
Citizen Scientist 0 Heterozygous/heterozygous   DirectLabs Vit B12


3. Dietary supplementation


3.a. Data Collection


Custom vitamin supplement ordering (for blinding)


C. Conclusions and Significance