Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care...

Area of Science:

• Genetics and Human Health
• Nutritional Biochemistry
• Pediatric Public Health

Background:

• Iron-deficiency anaemia is a critical global health issue affecting young children.
• The TMPRSS6 gene, encoding matriptase-2, plays a role in iron homeostasis and has been linked to anaemia and iron status.
• Genetic variations in TMPRSS6 may influence susceptibility to iron-related disorders.

Purpose of the Study:

• To examine the association between the TMPRSS6 rs855791 single nucleotide polymorphism (SNP) and biomarkers of anaemia and iron deficiency.
• To investigate these associations in Brazilian children attending day care centers.
• To determine if the T allele of rs855791 impacts iron status and red blood cell indices.

Main Methods:

• Cross-sectional study involving 163 children aged 6-42 months.
• Collection of socio-economic, demographic, biochemical, haematological, immunological, and genotype data.
• Application of multiple logistic and linear regressions to analyze associations between the SNP and health outcomes.

Main Results:

• The minor allele (T) frequency for rs855791 was 0.399.
• Each copy of the T allele correlated with a 4.49-fold increased risk of anaemia (P=0.005) and a 4.23-fold increased risk of iron deficiency (P<0.001).
• The T allele dose was linked to higher serum soluble transferrin receptor (sTfR) levels and reduced mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH).

Conclusions:

• The T allele of the TMPRSS6 rs855791 SNP is significantly associated with increased risk of anaemia and iron deficiency in Brazilian children.
• The observed effects are dose-dependent, with increasing copies of the T allele linked to poorer iron status biomarkers.
• This finding highlights the role of TMPRSS6 genetics in pediatric iron metabolism and deficiency risk.