Genetics

This post keeps three things in every cited study at once: genotyping, a CNS tissue measurement rather than a disability score, and relevance to MS. It covers the review of MS prognostic genetics, where the genome-wide evidence that has held concerns relapse rate, MRI measures including thalamic atrophy, and intrathecal IgG synthesis. It covers the UK Biobank study reading APOE4 carrier status inside an MS population against four independent readouts, retinal nerve fibre layer thickness on OCT, blood GFAP and neurofilament light chain, cognitive reaction time and white matter hyperintensities, with carriers worse on all four and GFAP showing a significant MS by APOE4 interaction, plus similar effects in healthy carriers. And it covers the first large-scale genetic map of cervical spinal cord morphology, phenotyped from brain MRI already collected in over 80,000 participants, which found 179 genome-wide significant variants, SNP heritability of 0.16 to 0.42, sex-specific signals, and associations between cord structure and multiple sclerosis.