Transmembrane Protease, Serine 6 (TMPRSS6) gene is associated with the synthesis of transmembrane protease, serine 6 (also known as matriptase-2), a liver serine protease. TMPRSS6 cleaves the bone morphogenetic protein (BMP) and down-regulates the iron hormone hepcidin, facilitating iron absorption. Inactivation of TMPRSS6 is associated with iron deficiency anemia.
There are two single nucleotide polymorphisms associated with this gene, rs855791 and rs4820268. Variations in this gene are shown to be associated with serum iron, hemoglobin transferrin saturation and erythrocyte traits.
Iron is essential for production of blood and most of the body’s iron (70%) is found in the red blood cells of the blood called hemoglobin and in muscle cells called myoglobin. Hemoglobin transfers oxygen in the blood from the lungs to the tissues. Myoglobin, present in muscle cells, transports, stores and releases oxygen.
Iron is also a constituent of certain proteins (6%) and is essential for energy metabolism and for respiration. It is a component of enzymes that are involved in the synthesis of collagen as well as for certain neurotransmitters. Iron is also required for optimum immune function.
Nearly 25% of the iron is stored as ferritin in the body.
In a study conducted on 2100 elderly women, people with the T variant of the gene (rs855791) were associated with lower levels of serum iron and hemoglobin. In another study conducted on 14,100 Danish men, men with the T variant were shown to be associated with lower levels of iron.
In another study conducted on about 600 people, the G variant of the gene (rs4820268) is associated with lower hepcidin levels than the A variant.
[Limitation] More likely to have lower serum iron and hemoglobin levels
Moderate level of serum iron
[Advantage] More likely to have higher serum iron and hemoglobin levels
[Limitation] More likely to have lower hemoglobin levels
Moderate level of hemoglobin
[Advantage] More likely to have higher hemoglobin levels
“Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.”