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Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache

Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes for a protein involved in iron metabolism, while genetic variants in HFE have...

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Autores principales: Papasavva, Maria, Vikelis, Michail, Katsarou, Martha-Spyridoula, Siokas, Vasileios, Dermitzakis, Emmanouil, Papademetriou, Christoforos, Karakostis, Konstantinos, Lazopoulos, George, Dardiotis, Efthimios, Drakoulis, Nikolaos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840935/
https://www.ncbi.nlm.nih.gov/pubmed/34570359
http://dx.doi.org/10.1007/s12031-021-01913-8
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author Papasavva, Maria
Vikelis, Michail
Katsarou, Martha-Spyridoula
Siokas, Vasileios
Dermitzakis, Emmanouil
Papademetriou, Christoforos
Karakostis, Konstantinos
Lazopoulos, George
Dardiotis, Efthimios
Drakoulis, Nikolaos
author_facet Papasavva, Maria
Vikelis, Michail
Katsarou, Martha-Spyridoula
Siokas, Vasileios
Dermitzakis, Emmanouil
Papademetriou, Christoforos
Karakostis, Konstantinos
Lazopoulos, George
Dardiotis, Efthimios
Drakoulis, Nikolaos
author_sort Papasavva, Maria
collection PubMed
description Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes for a protein involved in iron metabolism, while genetic variants in HFE have been associated with hereditary hemochromatosis (HH), an iron overload disorder. The objective of the current study was to examine the association of the more common HFE H63D variant, with the susceptibility to develop CH and diverse clinical phenotypes in a population of Southeastern European Caucasian (SEC) origin. Genomic DNA samples from 128 CH patients and 294 neurologically healthy controls were genotyped for the HFE rs1799945 (H63D) variant. H63D genotypic and allelic frequency distribution did not differ significantly between patients and controls (p > 0.05). Subgroup analysis revealed a significantly more frequent occurrence of the variant G allele in chronic compared to episodic CH patients, indicative for a possible correlation of the HFE gene with the susceptibility for disease chronification. Although homozygosity for the less prevalent H63D variant G allele was minimal in the CH cohort, the results of the present study are in accordance with previous studies in CH and migraine patients, suggesting that HFE H63D variant modifies the disease clinical characteristics. Hence, despite the absence of a per se association with CH susceptibility in the current SEC cohort, variability in HFE gene may be potentially regarded as a disease modifier genetic factor in CH.
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spelling pubmed-88409352022-02-23 Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache Papasavva, Maria Vikelis, Michail Katsarou, Martha-Spyridoula Siokas, Vasileios Dermitzakis, Emmanouil Papademetriou, Christoforos Karakostis, Konstantinos Lazopoulos, George Dardiotis, Efthimios Drakoulis, Nikolaos J Mol Neurosci Article Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes for a protein involved in iron metabolism, while genetic variants in HFE have been associated with hereditary hemochromatosis (HH), an iron overload disorder. The objective of the current study was to examine the association of the more common HFE H63D variant, with the susceptibility to develop CH and diverse clinical phenotypes in a population of Southeastern European Caucasian (SEC) origin. Genomic DNA samples from 128 CH patients and 294 neurologically healthy controls were genotyped for the HFE rs1799945 (H63D) variant. H63D genotypic and allelic frequency distribution did not differ significantly between patients and controls (p > 0.05). Subgroup analysis revealed a significantly more frequent occurrence of the variant G allele in chronic compared to episodic CH patients, indicative for a possible correlation of the HFE gene with the susceptibility for disease chronification. Although homozygosity for the less prevalent H63D variant G allele was minimal in the CH cohort, the results of the present study are in accordance with previous studies in CH and migraine patients, suggesting that HFE H63D variant modifies the disease clinical characteristics. Hence, despite the absence of a per se association with CH susceptibility in the current SEC cohort, variability in HFE gene may be potentially regarded as a disease modifier genetic factor in CH. Springer US 2021-09-27 2022 /pmc/articles/PMC8840935/ /pubmed/34570359 http://dx.doi.org/10.1007/s12031-021-01913-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Papasavva, Maria
Vikelis, Michail
Katsarou, Martha-Spyridoula
Siokas, Vasileios
Dermitzakis, Emmanouil
Papademetriou, Christoforos
Karakostis, Konstantinos
Lazopoulos, George
Dardiotis, Efthimios
Drakoulis, Nikolaos
Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
title Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
title_full Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
title_fullStr Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
title_full_unstemmed Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
title_short Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
title_sort evidence that hfe h63d variant is a potential disease modifier in cluster headache
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840935/
https://www.ncbi.nlm.nih.gov/pubmed/34570359
http://dx.doi.org/10.1007/s12031-021-01913-8
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