Risk genes associated with pediatric-onset MS but not with monophasic acquired CNS demyelination

Elles van Pelt - T Gravesteijn, Julia Mescheriakova, N Makhani, Immy Ketelslegers, Rinze Neuteboom, Suman Kundu, Linda Broer, Cecile Janssens, Coriene Catsman - Berrevoets, Cornelia Duijn, B Banwell, A Bar-Or, Rogier Hintzen

Research output: Contribution to journalArticleAcademicpeer-review

36 Citations (Scopus)


Objective: To investigate whether 57 genetic risk loci recently identified in a large-scale genome-wide association study in adult patients with multiple sclerosis (MS) are also associated with a risk for pediatric-onset MS and whether they can predict MS diagnosis in children presenting with acquired demyelinating syndromes (ADS). Methods: We included 188 children with ADS, of whom 53 were diagnosed with MS, 466 patients with adult-onset MS, and 2,046 adult controls in our cohort study. Weighted genetic risk scores (wGRS) were calculated to evaluate genetic effects. Results: Mean wGRS was significantly higher for patients with pediatric-onset MS (7.32 +/- 0.53) as compared with patients with monophasic ADS (7.10 +/- 0.47, p = 0.01) and controls (7.11 +/- 0.53, p, 0.01). We found no difference in mean wGRS of participants with monophasic ADS (7.10 +/- 0.47) and controls (7.11 +/- 0.53). The ability of the wGRS for the 57 single nucleotide polymorphisms (SNPs) to discriminate between children with MS and those with monophasic ADS was moderate (area under the Conclusion: The previously reported 57 SNPs for adult-onset MS also confer increased susceptibility to pediatric-onset MS, but not to monophasic ADS.
Original languageUndefined/Unknown
Pages (from-to)1996-2001
Number of pages6
Issue number23
Publication statusPublished - 2013

Cite this