Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients

Background: The SNP rs855791 has been linked to increased hepcidin levels, variations in serum iron, transferrin saturation and red blood cell indices. Our goal was to determine the prevalence of this polymorphism among COPD patients and to assess its impact on iron status parameters in patients wit...

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Main Authors: Trtica Marko, Novaković Ivana, Dopsaj Violeta, Milenković Branislava, Janković Jelena, Dimić-Janjić Sanja, Dopuđa-Pantić Vesna, Martinović Jelena, Jovičić Snežana
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Language:English
Published: Society of Medical Biochemists of Serbia, Belgrade 2025-01-01
Series:Journal of Medical Biochemistry
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Online Access:https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2025/1452-82582501129T.pdf
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author Trtica Marko
Novaković Ivana
Dopsaj Violeta
Milenković Branislava
Janković Jelena
Dimić-Janjić Sanja
Dopuđa-Pantić Vesna
Martinović Jelena
Jovičić Snežana
author_facet Trtica Marko
Novaković Ivana
Dopsaj Violeta
Milenković Branislava
Janković Jelena
Dimić-Janjić Sanja
Dopuđa-Pantić Vesna
Martinović Jelena
Jovičić Snežana
author_sort Trtica Marko
collection DOAJ
description Background: The SNP rs855791 has been linked to increased hepcidin levels, variations in serum iron, transferrin saturation and red blood cell indices. Our goal was to determine the prevalence of this polymorphism among COPD patients and to assess its impact on iron status parameters in patients with stable COPD. Methods: We analysed iron status parameters and genetic data from 29 COPD patients with wild-type genotype (WT group) and 65 COPD patients with either homozygous or heterozygous genotype (HH group). Additionally, the prevalence of SNP rs855791 was assessed in 192 volunteers. Results: The frequency distribution of SNP rs855791 was comparable between the COPD patients and control subjects (p=0.791). Iron status parameters were within their respective reference values and showed neither statistically nor clinically significant difference between the WT and HH group of COPD patients. However, after excluding patients with (sub)clinical vitamin B12 deficiency and/or hypoxemia, WT group of patients exhibited significantly lower erythropoietin levels (p=0.015). The area under the curve for erythropoietin was 0.688 (95% CI: 0.545-0.830, p=0.015), with an optimal cut-off of 9.74, sensitivity of 61.2% (95% CI: 58.1-64.3) and specificity of 65.0% (95% CI: 61.8-68.3).Conclusions: Iron status parameters do not differ between WT and HH groups of stable COPD patients. Statistical but not clinical difference in EPO levels was observed in a subgroup of patients. In addition to promoting erythropoiesis, EPO may regulate hepcidin levels and thus influence the development of iron deficiency and/or anaemia. Also, EPO's direct effect on immune cells and down-regulation of inflammatory reactions should be considered in this context.
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spelling doaj-art-a91a13a874b14a2789debdd86272296b2025-02-05T13:11:23ZengSociety of Medical Biochemists of Serbia, BelgradeJournal of Medical Biochemistry1452-82581452-82662025-01-0144112914010.5937/jomb0-529961452-82582501129TInfluence of TMPRSS6 genotype on iron status parameters in stable COPD patientsTrtica Marko0Novaković Ivana1https://orcid.org/0000-0003-0202-0673Dopsaj Violeta2https://orcid.org/0000-0001-8310-6254Milenković Branislava3https://orcid.org/0000-0002-0767-6869Janković Jelena4https://orcid.org/0000-0001-8529-8624Dimić-Janjić Sanja5https://orcid.org/0000-0001-9989-3862Dopuđa-Pantić Vesna6Martinović Jelena7Jovičić Snežana8https://orcid.org/0000-0002-6878-8645University of Belgrade, Faculty of Pharmacy, Department of Medical Biochemistry, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Institute of Human Genetics, Belgrade, SerbiaUniversity of Belgrade, Faculty of Pharmacy, Department of Medical Biochemistry, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, SerbiaZvezdara Clinical Hospital Center, Clinical Department of Pulmonology and Allergology with Immunology, Belgrade, SerbiaSante Biohemija, Belgrade, SerbiaUniversity of Belgrade, Faculty of Pharmacy, Department of Medical Biochemistry, Belgrade, SerbiaBackground: The SNP rs855791 has been linked to increased hepcidin levels, variations in serum iron, transferrin saturation and red blood cell indices. Our goal was to determine the prevalence of this polymorphism among COPD patients and to assess its impact on iron status parameters in patients with stable COPD. Methods: We analysed iron status parameters and genetic data from 29 COPD patients with wild-type genotype (WT group) and 65 COPD patients with either homozygous or heterozygous genotype (HH group). Additionally, the prevalence of SNP rs855791 was assessed in 192 volunteers. Results: The frequency distribution of SNP rs855791 was comparable between the COPD patients and control subjects (p=0.791). Iron status parameters were within their respective reference values and showed neither statistically nor clinically significant difference between the WT and HH group of COPD patients. However, after excluding patients with (sub)clinical vitamin B12 deficiency and/or hypoxemia, WT group of patients exhibited significantly lower erythropoietin levels (p=0.015). The area under the curve for erythropoietin was 0.688 (95% CI: 0.545-0.830, p=0.015), with an optimal cut-off of 9.74, sensitivity of 61.2% (95% CI: 58.1-64.3) and specificity of 65.0% (95% CI: 61.8-68.3).Conclusions: Iron status parameters do not differ between WT and HH groups of stable COPD patients. Statistical but not clinical difference in EPO levels was observed in a subgroup of patients. In addition to promoting erythropoiesis, EPO may regulate hepcidin levels and thus influence the development of iron deficiency and/or anaemia. Also, EPO's direct effect on immune cells and down-regulation of inflammatory reactions should be considered in this context.https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2025/1452-82582501129T.pdfb12 deficiencycopderythropoietinhepcidiniron status parameterstmprss6 gene polymorphism
spellingShingle Trtica Marko
Novaković Ivana
Dopsaj Violeta
Milenković Branislava
Janković Jelena
Dimić-Janjić Sanja
Dopuđa-Pantić Vesna
Martinović Jelena
Jovičić Snežana
Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
Journal of Medical Biochemistry
b12 deficiency
copd
erythropoietin
hepcidin
iron status parameters
tmprss6 gene polymorphism
title Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
title_full Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
title_fullStr Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
title_full_unstemmed Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
title_short Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
title_sort influence of tmprss6 genotype on iron status parameters in stable copd patients
topic b12 deficiency
copd
erythropoietin
hepcidin
iron status parameters
tmprss6 gene polymorphism
url https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2025/1452-82582501129T.pdf
work_keys_str_mv AT trticamarko influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT novakovicivana influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT dopsajvioleta influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT milenkovicbranislava influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT jankovicjelena influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT dimicjanjicsanja influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT dopuđapanticvesna influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT martinovicjelena influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients
AT jovicicsnezana influenceoftmprss6genotypeonironstatusparametersinstablecopdpatients