Aug 10, 2012 - load due to chronic venous diseases [14,16]. Among ...... I, Salvi F, Zamboni P: Chronic cerebrospinal venous insufficiency and iron deposition ...
Gemmati et al. BMC Medical Genetics 2012, 13:70 http://www.biomedcentral.com/1471-2350/13/70
RESEARCH ARTICLE
Open Access
Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis Donato Gemmati1*, Giulia Zeri1, Elisa Orioli1, Francesca E De Gaetano1, Fabrizio Salvi2, Ilaria Bartolomei2, Sandra D’Alfonso3, Claudia Dall’Osso4,5, Maurizio A Leone6, Ajay V Singh7, Rosanna Asselta4 and Paolo Zamboni8
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
