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Genetic burden of common variants in progressive and bout-onset multiple sclerosis

Sorosina, Melissa and Brambilla, Paola and Clarelli, Ferdinando and Barizzone, Nadia and Lupoli, Sara and Guaschino, Clara and Osiceanu, Ana Maria and Moiola, Lucia and Ghezzi, Angelo and Coniglio, Gabriella and Patti, Francesco and Mancardi, Gianluigi and Manunta, Paolo and Glorioso, Nicola and Guerini, Franca R. and Bergamaschi, Roberto and Perla, Franco and Martinelli, Vittorio and Cusi, Daniele and Leone, Maurizio A. and Comi, Giancarlo and D'Alfonso, Sandra and Martinelli-Boneschi, Filippo (2014) Genetic burden of common variants in progressive and bout-onset multiple sclerosis. Multiple Sclerosis Journal, Vol. 20 (7), p. 802-811. ISSN 1352-4585. eISSN 1477-0970. Article.

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DOI: 10.1177/1352458513512707


Background: The contribution of genetic variants underlying the susceptibility to different clinical courses of multiple sclerosis (MS) is still unclear.
Objective: The aim of the study is to evaluate and compare the proportion of liability explained by common SNPs and the genetic burden of MS-associated SNPs in progressive onset (PrMS) and bout-onset (BOMS) cases.
Methods: We estimated the proportion of variance in disease liability explained by 296,391 autosomal SNPs in cohorts of Italian PrMS and BOMS patients using the genome-wide complex trait analysis (GCTA) tool, and we calculated a weighted genetic risk score (wGRS) based on the known MS-associated loci.
Results: Our results identified that common SNPs explain a greater proportion of phenotypic variance in BOMS (36.5%±10.1%) than PrMS (20.8%±6.0%) cases, and a trend of decrease was observed when testing primary progressive (PPMS) without brain MRI inflammatory activity (p = 7.9 × 10−3). Similarly, the wGRS and the variance explained by MS-associated SNPs were higher in BOMS than PPMS in males (wGRS: 6.63 vs 6.51, p = 0.04; explained variance: 4.8%±1.5% vs 1.7%±0.6%; p = 0.05).
Conclusions: Our results suggest that the liability of disease is better captured by common genetic variants in BOMS than PrMS cases. The absence of inflammatory activity and male gender further raise the difference between clinical courses.

Item Type:Article
ID Code:10341
Uncontrolled Keywords:Genome-wide association study, heritability, multiple sclerosis, primary progressive, relapsing-remitting
Subjects:Area 06 - Scienze mediche > MED/09 Medicina interna
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Chirurgiche, Microchirurgiche e Mediche
Publisher:SAGE Publications
Additional Information:In collaborazione con i consorzi PROGRESSO e PROGEMUS (PROgnostic GEnetic factors in Multiple Sclerosis)
Deposited On:18 Nov 2014 14:37

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