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Fig. 1 | Journal of Neuroinflammation

Fig. 1

From: Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

Fig. 1

Flowchart showing the study design and analysis. Patients were classified according to their disease course into benign and aggressive MS, as described in the Methods. By means of exome sequencing, a total of 915 single-nucleotide polymorphisms (SNPs) were identified from 10 MS patients with benign and 10 with aggressive disease courses as being differentially distributed between both groups (discovery cohort). After applying several selection criteria on the list of 915 SNPs including odds ratio difference, phenotype prevalence, number of statistically significant SNPs per gene, type and variant effects on the predicted protein, and relevance of target genes to MS, a total of 16 SNPs were chosen for further validation in two independent cohorts of patients also classified into benign and aggressive phenotypes. The first validation cohort comprised 194 MS patients, 107 with benign and 87 with aggressive disease courses, and genotyping was conducting using an OpenArray technology. The second validation cohort consisted of 257 MS patients, 224 with benign and 33 with aggressive disease courses, and genotyping was performed on a MassArray iPLEX platform. Finally, a meta-analysis was performed in the two validation cohorts

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