MTHFR - Research Study

Article Index
Research Study
Referral to Dietitian
Family History
Risk Assessment for Relatives
Food/Nutrition History
Folic Acid Supplementation
Contemplating another Pregnancy
Dietary Assessment
Potential Nutrition Diagnoses
All Pages

Folate status and genotype

Maria recently participated in a research study. The study is evaluating the relationship between folate status and genotype for methylenetetrahyrofolate reductase (MTHFR) in a population of women with pregnancies affected with NTDs. The screening process included:

  • fasting blood samples for a chemistry profile
  • CBC with differential, folate and vitamin B12 status
  • genotype for variation in the MTHFR gene, specifically the MTHFR 677 C→T single nucleotide polymorphism
  • a blood pressure measurement

Maria’s Lab Results

The study investigators offered to provide study participants with their lab results, but did not educate them about the implications and meanings of the results.  Maria requested and received her results:

  • chemistry profile, CBC with differential, and serum B12 were all within normal limits
  • low (deficient) serum folate concentration
  • her genotype for the MTHFR 677C→T single nucleotide polymorphism was TT (homozygous variant).
  • blood pressure was 108/72 mmHg.

Maria’s low folate level prompted the researchers to make a referral to a dietitian, as required by the study protocol.