Folate Gene Polymorphisms and Cellular Folate Speciation Pilot Study (FolGene)

This study has been completed.
Information provided by (Responsible Party):
Institute of Food Research Identifier:
First received: September 10, 2009
Last updated: February 15, 2013
Last verified: February 2013

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.

Single Nucleotide Polymorphism

Study Type: Observational
Official Title: Pilot Study to Investigate Relationship Between Common Folate Gene Polymorphisms, Folate Status and Cellular Folate Speciation

Resource links provided by NLM:

Further study details as provided by Institute of Food Research:

Primary Outcome Measures:
  • Relationship between MTHFR TT, CT and CC genotype and red cell folate species [ Time Frame: July 2010 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Relationship between other folate metabolism related genes and red cell folate species [ Time Frame: July 2010 ] [ Designated as safety issue: No ]
  • Relationship between folate, B12, riboflavin and ferritin status and red cell folate species [ Time Frame: December 2010 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

One-off blood sample collected. DNA extracted for genotyping of folate metabolism-related gene single nucleotide polymorphisms

Enrollment: 100
Study Start Date: February 2009
Study Completion Date: December 2010
Primary Completion Date: July 2010 (Final data collection date for primary outcome measure)
blood sampling
Consented volunteers provide a one-off blood sample

Detailed Description:

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.


Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Healthy adults (male and female) aged 18-65


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
  Contacts and Locations
Please refer to this study by its identifier: NCT00975364

United Kingdom
Institute of Food Research
Norwich, Norfolk, United Kingdom, NR4 6JF
Sponsors and Collaborators
Institute of Food Research
Principal Investigator: Paul Finglas Institute of Food Research
  More Information

No publications provided

Responsible Party: Institute of Food Research Identifier: NCT00975364     History of Changes
Other Study ID Numbers: IFR05/2008, 08/H0310/153, 2008IFR01L
Study First Received: September 10, 2009
Last Updated: February 15, 2013
Health Authority: United Kingdom: National Health Service

Keywords provided by Institute of Food Research:
Methylenetetrahydrofolate reductase
Nutrient status
Polymorphism, single nucleotide

Additional relevant MeSH terms:
Folic Acid
Vitamin B Complex
Growth Substances
Physiological Effects of Drugs
Pharmacologic Actions
Hematologic Agents
Therapeutic Uses processed this record on April 23, 2014