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.
Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis / M. Vercellino, C. Fenoglio, D. Galimberti, A. Mattioda, C. Chiavazza, E. Binello, L. Pinessi, D. Giobbe, E. Scarpini, P. Cavalla. - In: MULTIPLE SCLEROSIS. - ISSN 1352-4585. - 22:8(2016 Jul), pp. 1007-1012. [10.1177/1352458515610646]
Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis
C. FenoglioSecondo
;D. Galimberti;E. ScarpiniPenultimo
;
2016
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.File | Dimensione | Formato | |
---|---|---|---|
Mult Scler-2016-Vercellino-1007-12.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
445.26 kB
Formato
Adobe PDF
|
445.26 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.