Table 1.
Clinical characteristics of MS patients according to OCB status in the three populations.
Figure 1.
Distribution of the wGRS in MS patients positive (OCB+) or negative (OCB−) for OCB.
wGRS (weighted Genetic Risk Score) has been calculated using the ORs for the 52 non-HLA MS susceptibility variants,6 and three HLA alleles (DRB1*15, DRB1*03 and A*02). The reported p value derived from the comparison of the mean wGRS (Student's t test) in OCB+ vs OCB−.
Figure 2.
Results of the GWAS for OCB status and meta-analysis after in silico replication.
(a) Manhattan Plot of the GWAS performed in the Italian OCB+ vs OCB− MS patients, as a discovery dataset. The blue horizontal line indicates the threshold of p values arbitrarily chosen to select the “best associated SNPs” (p-value <10−4, 89 SNPs) to perform in silico replication (Table S1) using data from Scandinavia and Belgium populations. (b) Meta-analysis for the rs9320598 SNP, the strongest signal after the meta-analysis of the combined results of all datasets (Italy, Scandinavia and Belgium). The forest plot summarizes the results obtained for the discovery Italian dataset, for the replication datasets from Scandinavia and Belgium, and the combined analysis calculated using the random and fixed-effect method.