Genetics

This blog post reviews Mescheriakova et al. (2016), which investigates whether Dutch multiplex multiple sclerosis (MS) families carry a higher burden of established common genetic risk variants than sporadic MS cases and how this burden relates to clinical features and predictive performance. Using a weighted genetic risk score derived from 102 non-HLA loci and an HLA-DRB1*15 proxy, the study shows that familial MS probands exhibit significantly greater aggregate genetic risk than sporadic cases, a difference largely driven by HLA. The post also examines the modest association between genetic burden and earlier age at onset, the lack of consistent links to disability or disease course, and the limited discrimination achieved by genetic models—highlighting both the value and current constraints of polygenic approaches for MS risk stratification.