Folate Gene Polymorphisms and Cellular Folate Speciation Pilot Study

Pilot Study to Investigate Relationship Between Common Folate Gene Polymorphisms, Folate Status and Cellular Folate Speciation

This pilot study is designed to investigate differences in folate-related genes (single nucleotide polymorphisms) and their relationship to the species of folate present on red blood cells.

The main questions to be addressed in this pilot study are:

1. what is the type of folate in red blood cells in individuals with different methylterahydrofolate reductase (MTHFR) genotypes
2. what is the relationship between other folate metabolism-related gene single nucleotide polymorphisms and type (species) of folate found in red blood cells
3. what is the relationship between folate and other B vitamin status, genotype and folate species
4. is there a relationship between serum ferritin status and folate metabolism

Whole blood will be taken from apparently healthy male and female volunteers, aged 18-65, which will be used to determine genotype for various folate metabolism-related genes. Furthermore, the type of folate present on the red blood cells will be assessed, and folate, vitamin B12, riboflavin and serum ferritin status determined.

Inclusion Criteria:

• Aged 18-65
• Males and females
• Body Mass Index greater than 19.5 and less than 40
• Smokers and non-smokers

Exclusion Criteria:

• Pregnancy or been pregnant in last 12 months
• Diabetes
• Parallel participation in another research project if total amount of blood from combined studies is greater than 470ml
• Participation in another research project where blood samples were taken within the past 4 months, unless total blood volume does not exceed 470ml
• Any person related to or living with a member of the study team
• Has donated or intends to donate blood within 16 weeks (prior to or after) the study