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Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease

Thumbnail
2019
3364.pdf (1.854Mb)
Authors
Dopsaj, Violeta
Topić, Aleksandra
Savković, Miljan
Milinković, Neda
Novaković, Ivana
Cujić, Danica
Simić-Ogrizović, Sanja
Article (Published version)
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Abstract
Background. Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. In addition, we aimed to evaluate the diagnostic accuracy of the parameters to separate iron-deficiency anemia (IDA) from anemia of chronic disease. Materials and Methods. Iron status parameters and genetic analysis were performed in 126 ESRD patients and in 31 IDA patients as the control group. Results. ESRD patients had significantly higher ferritin and hepcidin-25 ( lt 0.001) relative to IDA patients. Cut-off values with the best diagnostic accuracy were found for hepcidin 9.32ng/mL, ferritin 48.2g/L, transferrin saturation 16.8%, and MCV 81fL. Interaction between gender and HFE haplotypes for the hepcidin-25 and ferritin levels in ESRD patients (p=0.005, partial eta squared=0.09; p=0.027, partial eta squared=0.06, respectively) was found. Se...rum transferrin was influenced by the combined effect of gender and TMPRSS6 A736V polymorphism in ESRD patients (p=0.002, partial eta squared=0.07). Conclusion. Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients.

Source:
Disease Markers, 2019
Publisher:
  • Hindawi Ltd, London
Funding / projects:
  • A multidisciplinary study of the role of genetic and acquired autoimmune abnormalities in the onset of systemic manifestations of antiphospholipid syndrome. (RS-175041)

DOI: 10.1155/2019/4864370

ISSN: 0278-0240

PubMed: 30984307

WoS: 000461630000001

Scopus: 2-s2.0-85064852972
[ Google Scholar ]
2
2
URI
https://farfar.pharmacy.bg.ac.rs/handle/123456789/3366
Collections
  • Radovi istraživača / Researchers’ publications
Institution/Community
Pharmacy
TY  - JOUR
AU  - Dopsaj, Violeta
AU  - Topić, Aleksandra
AU  - Savković, Miljan
AU  - Milinković, Neda
AU  - Novaković, Ivana
AU  - Cujić, Danica
AU  - Simić-Ogrizović, Sanja
PY  - 2019
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/3366
AB  - Background. Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. In addition, we aimed to evaluate the diagnostic accuracy of the parameters to separate iron-deficiency anemia (IDA) from anemia of chronic disease. Materials and Methods. Iron status parameters and genetic analysis were performed in 126 ESRD patients and in 31 IDA patients as the control group. Results. ESRD patients had significantly higher ferritin and hepcidin-25 ( lt 0.001) relative to IDA patients. Cut-off values with the best diagnostic accuracy were found for hepcidin 9.32ng/mL, ferritin 48.2g/L, transferrin saturation 16.8%, and MCV 81fL. Interaction between gender and HFE haplotypes for the hepcidin-25 and ferritin levels in ESRD patients (p=0.005, partial eta squared=0.09; p=0.027, partial eta squared=0.06, respectively) was found. Serum transferrin was influenced by the combined effect of gender and TMPRSS6 A736V polymorphism in ESRD patients (p=0.002, partial eta squared=0.07). Conclusion. Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients.
PB  - Hindawi Ltd, London
T2  - Disease Markers
T1  - Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease
DO  - 10.1155/2019/4864370
UR  - conv_4337
ER  - 
@article{
author = "Dopsaj, Violeta and Topić, Aleksandra and Savković, Miljan and Milinković, Neda and Novaković, Ivana and Cujić, Danica and Simić-Ogrizović, Sanja",
year = "2019",
abstract = "Background. Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. In addition, we aimed to evaluate the diagnostic accuracy of the parameters to separate iron-deficiency anemia (IDA) from anemia of chronic disease. Materials and Methods. Iron status parameters and genetic analysis were performed in 126 ESRD patients and in 31 IDA patients as the control group. Results. ESRD patients had significantly higher ferritin and hepcidin-25 ( lt 0.001) relative to IDA patients. Cut-off values with the best diagnostic accuracy were found for hepcidin 9.32ng/mL, ferritin 48.2g/L, transferrin saturation 16.8%, and MCV 81fL. Interaction between gender and HFE haplotypes for the hepcidin-25 and ferritin levels in ESRD patients (p=0.005, partial eta squared=0.09; p=0.027, partial eta squared=0.06, respectively) was found. Serum transferrin was influenced by the combined effect of gender and TMPRSS6 A736V polymorphism in ESRD patients (p=0.002, partial eta squared=0.07). Conclusion. Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients.",
publisher = "Hindawi Ltd, London",
journal = "Disease Markers",
title = "Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease",
doi = "10.1155/2019/4864370",
url = "conv_4337"
}
Dopsaj, V., Topić, A., Savković, M., Milinković, N., Novaković, I., Cujić, D.,& Simić-Ogrizović, S.. (2019). Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease. in Disease Markers
Hindawi Ltd, London..
https://doi.org/10.1155/2019/4864370
conv_4337
Dopsaj V, Topić A, Savković M, Milinković N, Novaković I, Cujić D, Simić-Ogrizović S. Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease. in Disease Markers. 2019;.
doi:10.1155/2019/4864370
conv_4337 .
Dopsaj, Violeta, Topić, Aleksandra, Savković, Miljan, Milinković, Neda, Novaković, Ivana, Cujić, Danica, Simić-Ogrizović, Sanja, "Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease" in Disease Markers (2019),
https://doi.org/10.1155/2019/4864370 .,
conv_4337 .

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