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The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study

NCT03317873 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 80

Last updated 2019-06-12

No results posted yet for this study

Summary

Iron deficiency is considered the most common nutritional deficiency worldwide and affects children and women in both non-industrialized as well as industrialized countries. The main regulatory molecule of iron metabolism is hepcidin, a hormone produced in the liver that regulates intestinal iron absorption, placental transport, recycling of iron by macrophages and release from stores. The expression of hepcidin is regulated by many mediators, one of which is Matriptase-2 - a transmembrane protease. Complete loss of function leads to the rare disease iron-refractory iron deficiency anemia (IRIDA). Matriptase-2 is encoded by the gene TMPRSS6 and the single nucleotide polymorphism (SNP) rs855791 causes a non-synonymous substitution (V736A) that reduces the activity of the protease to inhibit hepcidin transcription. Genome wide association studies have identified the TMPRSS6 SNP rs855791 has a strong association with red blood cell and iron parameters in the general population.

The objectives of the study is to measure oral iron absorption and systemic iron utilization into red blood cells (RBC) using oral isotopic labels in subjects homozygotes for common variants of the TMPRSS6 gene with the SNP rs855791 (A736V); AA vs. VV subjects.

The aim is to conduct an iron absorption study in 80 Taiwanese women of reproductive age, non-pregnant, non-anemic, investigating the effect of the genetic variants of the SNP rs855791. The participants will be split in two groups of equal size; wild type AA vs. mutation VV. Iron absorption and systemic utilization will be assessed by two test meals containing stable isotopes of iron.The primary outcome of the trial is the oral iron absorption from a test meal as compared between the two genotypes AA vs. VV. Secondary outcomes are the comparison iron status markers between the two genotypes.

Conditions

  • Iron Metabolism Disorders

Interventions

DIETARY_SUPPLEMENT

Testmeal A

The tesmeal A is is plain rice, with a seaweed sauce, fortified with labelled iron as stable iron isotope as ferrous sulfate

DIETARY_SUPPLEMENT

Testmeal B

The tesmeal B is plain rice, with a seaweed sauce, fortified with labelled iron as stable iron isotope as ferrous sulfate

Sponsors & Collaborators

  • Chang Gung Memorial Hospital

    collaborator OTHER

  • Swiss Federal Institute of Technology

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
PREVENTION
Masking
SINGLE
Model
PARALLEL

Eligibility

Min Age
20 Years
Max Age
45 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-11-01
Primary Completion
2019-02-19
Completion
2019-02-19

Countries

  • Taiwan

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03317873 on ClinicalTrials.gov