Iron Metabolism Disorders Clinical Trial
Official title:
The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study
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.
n/a
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