Folate Gene Polymorphisms and Cellular Folate Speciation Pilot Study

Study Overview
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Brief Summary
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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.

Detailed Description
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The main questions to be addressed in this pilot study are: what is the type of folate in red blood cells in individuals with different methylterahydrofolate reductase (MTHFR) genotypes what is the relationship between other folate metabolism-related gene single nucleotide polymorphisms and type (species) of folate found in red blood cells what is the relationship between folate and other B vitamin status, genotype and folate species 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.

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

Conditions
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Single Nucleotide Polymorphism

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 65 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| blood sampling<br>Consented volunteers provide a one-off blood sample | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Relationship between MTHFR TT, CT and CC genotype and red cell folate species |  | July 2010 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Relationship between other folate metabolism related genes and red cell folate species |  | July 2010 | 
| Relationship between folate, B12, riboflavin and ferritin status and red cell folate species |  | December 2010 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Folate, Methylenetetrahydrofolate reductase, Speciation, Nutrient status, Bioavailability, Polymorphism, single nucleotide