Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

Donato Gemmati, Giulia Zeri, Elisa Orioli, Francesca E. De Gaetano, Fabrizio Salvi, Ilaria Bartolomei, Sandra D'Alfonso, Claudia Dall'Osso, Maurizio A. Leone, Ajay V. Singh, Rosanna Asselta, Paolo Zamboni

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Iron involvement/imbalance is strongly suspected in multiple sclerosis (MS) etiopathogenesis, but its role is quite debated. Iron deposits encircle the veins in brain MS lesions, increasing local metal concentrations in brain parenchyma as documented by magnetic resonance imaging and histochemical studies. Conversely, systemic iron overload is not always observed. We explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes in MS patients.Methods: By the pyrosequencing technique, we investigated 414 MS cases [Relapsing-remitting (RR), n=273; Progressive, n=141, of which: Secondary (SP), n=103 and Primary (PP), n=38], and 414 matched healthy controls. Five SNPs in 4 genes were assessed: hemochromatosis (HFE: C282Y, H63D), ferroportin (FPN1: -8CG), hepcidin (HEPC: -582AG), and transferrin (TF: P570S).Results: The FPN1-8GG genotype was overrepresented in the whole MS population (OR=4.38; 95%CI, 1.89-10.1; P

Original languageEnglish
Article number70
JournalBMC Medical Genetics
Volume13
DOIs
Publication statusPublished - Aug 10 2012

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis'. Together they form a unique fingerprint.

Cite this