Genetics

This blog post examines a recent Scientific Reports study showing that rare, predicted pathogenic variants in genes previously associated with multiple sclerosis through GWAS are significantly enriched in familial multiple sclerosis, but not in sporadic cases. By comparing whole exome sequencing data from familial MS patients, sporadic MS patients, and thousands of controls, the study highlights several candidate genes—including ALPK2, ANKRD55, INTS8, IQCB1, JADE2, and MALT1—that may contribute to inherited MS susceptibility. The findings suggest that familial MS may have a distinct genetic architecture in which rare functional variants add risk beyond common GWAS loci.