Exploring the Association of TMPRSS6 rs1421312 Variant with Hepcidin, sTfR1, and Iron Deficiency Anemia in Reproductive-Age Women

Background: Iron deficiency anemia (IDA) continues to pose a significant global health problem affecting diverse demographic groups worldwide. A complex interplay between environmental and genetic factors affects the development of IDA. In this context, Variation in TMPRSS6 gene has been identified as a potential risk factor. This study examines the association between TMPRSS6 rs1421312 SNPs and key biomarkers of iron deficiency status. These included hepcidin, soluble Transferrin Receptor Type 1 (sTfR1), and the sTfR1-F Index, among non-pregnant women of reproductive age.
Methodology: To explore these associations, a cross-sectional design was employed. A total of 140 non-pregnant women, aged 17-50 years, were recruited based on low MCV and MCH. Participants were grouped into 60 IDA cases and 80 non-IDA cases based on a comprehensive analysis of their complete blood counts and serum iron studies. Additionally, DNA extraction and genotyping were carried out using allele-specific primers through PCR.
Result: The distribution of genotypes for TMPRSS6 rs1421312 in cases without IDA (non-IDA) was 9(11.25%) (CC), 67(83.75%) (TC), and 4(5%) (TT). Whereas in cases with IDA, it was 8(13.33%) (CC), 48(80%) (TC), and 4(6.66%) (TT). No significant difference was found between the groups (P = 0.840). Additionally, the results indicated that the variations in Hepcidin levels, sTfR1, and the sTfR1-Ferritin Index among the CC, TT, and TC genotypes were not statistically significant.
Conclusion: To the best of our knowledge, this represents the first such report from an Iraqi population. The current study concluded that no detectable association was found between the TMPRSS6 rs1421312 SNP and IDA. Additionally, no detectable associations were found with Hepcidin levels, sTfR1, or the sTfR1-Ferritin Index. Further studies are recommended to focus on the role of this SNP in IDA.