Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache.
Genetics
H63D
Iron homeostasis
Primary headache disorders
Southeastern European Caucasians
rs1799945
Journal
Journal of molecular neuroscience : MN
ISSN: 1559-1166
Titre abrégé: J Mol Neurosci
Pays: United States
ID NLM: 9002991
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
07
07
2021
accepted:
02
09
2021
pubmed:
28
9
2021
medline:
5
4
2022
entrez:
27
9
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34570359
doi: 10.1007/s12031-021-01913-8
pii: 10.1007/s12031-021-01913-8
pmc: PMC8840935
doi:
Substances chimiques
HFE protein, human
0
Hemochromatosis Protein
0
Histocompatibility Antigens Class I
0
Membrane Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
393-400Informations de copyright
© 2021. The Author(s).
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