MTHFR


DIYgenomics citizen science experiments - MTHFR mutations and Vitamin B12 deficiency

Back to DIYgenomics 

 

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 B12 deficiency, 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 B12 deficiency. Questionnaires are employed to ask participants about Vitamin B12 deficiency. Participants with Vitamin B12 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 C677T

rs1801133

D,23

11778965 CT C, CT TT 1
2 1p36.3 A1298C

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: 

  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)

     

 

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 0 AG GT   23andme-original edition Heterozygous/heterozygous 2/5/10 Incomplete
Citizen Scientist 1              
Citizen Scientist 2              
               

 

2. Phenotype data: Vitamin B12 deficiency

Blood tests: 

 

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

 

C. Conclusions and Significance