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Published on: February 25, 2014
Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis
Marco Vercellino1, Chiara Fenoglio2, Daniela Galimberti2
1Neurologia 3 S.C., Department of Neuroscience, City of Health and Science University Hospital of Turin, Italy mvercellino@cittadellasalute.to.it.
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.
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