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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00975364
Recruitment Status : Completed
First Posted : September 11, 2009
Last Update Posted : February 18, 2013
Information provided by (Responsible Party):
Quadram Institute

Brief Summary:
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.

Condition or disease
Single Nucleotide Polymorphism

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.

Study Type : Observational
Actual Enrollment : 100 participants
Official Title: Pilot Study to Investigate Relationship Between Common Folate Gene Polymorphisms, Folate Status and Cellular Folate Speciation
Study Start Date : February 2009
Actual Primary Completion Date : July 2010
Actual Study Completion Date : December 2010

Resource links provided by the National Library of Medicine

U.S. FDA Resources

blood sampling
Consented volunteers provide a one-off blood sample

Primary Outcome Measures :
  1. Relationship between MTHFR TT, CT and CC genotype and red cell folate species [ Time Frame: July 2010 ]

Secondary Outcome Measures :
  1. Relationship between other folate metabolism related genes and red cell folate species [ Time Frame: July 2010 ]
  2. Relationship between folate, B12, riboflavin and ferritin status and red cell folate species [ Time Frame: December 2010 ]

Biospecimen Retention:   Samples With DNA
One-off blood sample collected. DNA extracted for genotyping of folate metabolism-related gene single nucleotide polymorphisms

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   18 Years to 65 Years   (Adult)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00975364

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

Responsible Party: Quadram Institute Identifier: NCT00975364     History of Changes
Other Study ID Numbers: IFR05/2008
First Posted: September 11, 2009    Key Record Dates
Last Update Posted: February 18, 2013
Last Verified: February 2013

Keywords provided by Quadram Institute:
Methylenetetrahydrofolate reductase
Nutrient status
Polymorphism, single nucleotide

Additional relevant MeSH terms:
Folic Acid
Vitamin B Complex
Growth Substances
Physiological Effects of Drugs