Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis

Marco Vercellino, Chiara Fenoglio, Daniela Galimberti, Alessandra Mattioda, Carlotta Chiavazza, Eleonora Binello, Lorenzo Pinessi, Dario Giobbe, Elio Scarpini, Paola Cavalla

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Progranulin (GRN) is a multifunctional protein involved in inflammation and repair, and also a neurotrophic factor critical for neuronal survival. Progranulin is strongly expressed in multiple sclerosis (MS) brains by macrophages and microglia. Methods: In this study we evaluated GRN genetic variability in 400 MS patients, in correlation with clinical variables such as disease severity and relapse recovery. We also evaluated serum progranulin levels in the different groups of GRN variants carriers. Results: We found that incomplete recovery after a relapse is correlated with an increased frequency of the rs9897526 A allele (odds ratio (OR) 4.367, p = 0.005). A more severe disease course (Multiple Sclerosis Severity Score > 5) is correlated with an increased frequency of the rs9897526 A allele (OR 1.886, p = 0.002) and of the rs5848 T allele (OR 1.580, p = 0.019). Carriers of the variants associated with a more severe disease course (rs9897526 A, rs5848 T) have significantly lower levels of circulating progranulin (80.5 ± 9.1 ng/mL vs. 165.7 ng/mL, p = 0.01). Conclusion: GRN genetic polymorphisms likely influence disease course and relapse recovery in MS.

Original languageEnglish
Pages (from-to)1007-1012
Number of pages6
JournalMultiple Sclerosis
Volume22
Issue number8
DOIs
Publication statusPublished - Jul 1 2016

Keywords

  • disability
  • genetic
  • inflammation
  • Multiple sclerosis
  • neuroprotection
  • progranulin
  • relapse

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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