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

Melissa Sorosina, Paola Brambilla, Ferdinando Clarelli, Nadia Barizzone, Sara Lupoli, Clara Guaschino, Ana Maria Osiceanu, Lucia Moiola, Angelo Ghezzi, Gabriella Coniglio, Francesco Patti, Gianluigi Mancardi, Paolo Manunta, Nicola Glorioso, Franca R. Guerini, Roberto Bergamaschi, Franco Perla, Vittorio Martinelli, Daniele Cusi, Maurizio LeoneGiancarlo Comi, Sandra D'Alfonso, Filippo Martinelli-Boneschi

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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 MSassociated 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).

Original languageEnglish
Pages (from-to)802-811
Number of pages10
JournalMultiple Sclerosis Journal
Volume20
Issue number7
DOIs
Publication statusPublished - 2014

Fingerprint

Multiple Sclerosis
Single Nucleotide Polymorphism
Genome
Brain

Keywords

  • Genome-wide association study
  • Heritability
  • Multiple sclerosis
  • Primary progressive
  • Relapsing-remitting

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Sorosina, M., Brambilla, P., Clarelli, F., Barizzone, N., Lupoli, S., Guaschino, C., ... Martinelli-Boneschi, F. (2014). Genetic burden of common variants in progressive and bout-onset multiple sclerosis. Multiple Sclerosis Journal, 20(7), 802-811. https://doi.org/10.1177/1352458513512707

Genetic burden of common variants in progressive and bout-onset multiple sclerosis. / Sorosina, Melissa; Brambilla, Paola; Clarelli, Ferdinando; Barizzone, Nadia; Lupoli, Sara; Guaschino, Clara; Osiceanu, Ana Maria; Moiola, Lucia; Ghezzi, Angelo; Coniglio, Gabriella; Patti, Francesco; Mancardi, Gianluigi; Manunta, Paolo; Glorioso, Nicola; Guerini, Franca R.; Bergamaschi, Roberto; Perla, Franco; Martinelli, Vittorio; Cusi, Daniele; Leone, Maurizio; Comi, Giancarlo; D'Alfonso, Sandra; Martinelli-Boneschi, Filippo.

In: Multiple Sclerosis Journal, Vol. 20, No. 7, 2014, p. 802-811.

Research output: Contribution to journalArticle

Sorosina, M, Brambilla, P, Clarelli, F, Barizzone, N, Lupoli, S, Guaschino, C, Osiceanu, AM, Moiola, L, Ghezzi, A, Coniglio, G, Patti, F, Mancardi, G, Manunta, P, Glorioso, N, Guerini, FR, Bergamaschi, R, Perla, F, Martinelli, V, Cusi, D, Leone, M, Comi, G, D'Alfonso, S & Martinelli-Boneschi, F 2014, 'Genetic burden of common variants in progressive and bout-onset multiple sclerosis', Multiple Sclerosis Journal, vol. 20, no. 7, pp. 802-811. https://doi.org/10.1177/1352458513512707
Sorosina M, Brambilla P, Clarelli F, Barizzone N, Lupoli S, Guaschino C et al. Genetic burden of common variants in progressive and bout-onset multiple sclerosis. Multiple Sclerosis Journal. 2014;20(7):802-811. https://doi.org/10.1177/1352458513512707
Sorosina, Melissa ; Brambilla, Paola ; Clarelli, Ferdinando ; Barizzone, Nadia ; Lupoli, Sara ; Guaschino, Clara ; Osiceanu, Ana Maria ; Moiola, Lucia ; Ghezzi, Angelo ; Coniglio, Gabriella ; Patti, Francesco ; Mancardi, Gianluigi ; Manunta, Paolo ; Glorioso, Nicola ; Guerini, Franca R. ; Bergamaschi, Roberto ; Perla, Franco ; Martinelli, Vittorio ; Cusi, Daniele ; Leone, Maurizio ; Comi, Giancarlo ; D'Alfonso, Sandra ; Martinelli-Boneschi, Filippo. / Genetic burden of common variants in progressive and bout-onset multiple sclerosis. In: Multiple Sclerosis Journal. 2014 ; Vol. 20, No. 7. pp. 802-811.
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AU - Lupoli, Sara

AU - Guaschino, Clara

AU - Osiceanu, Ana Maria

AU - Moiola, Lucia

AU - Ghezzi, Angelo

AU - Coniglio, Gabriella

AU - Patti, Francesco

AU - Mancardi, Gianluigi

AU - Manunta, Paolo

AU - Glorioso, Nicola

AU - Guerini, Franca R.

AU - Bergamaschi, Roberto

AU - Perla, Franco

AU - Martinelli, Vittorio

AU - Cusi, Daniele

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AU - D'Alfonso, Sandra

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