Genetics

This post covers Gasperi and colleagues' 2023 Annals of Neurology brief communication, which tested whether the MS severity variant rs10191329 is associated with accelerated brain atrophy in 748 patients in Munich and 360 in Stockholm. It follows the inclusion rule built around same-scanner repeat imaging, the directed one-sided hypothesis and permutation testing, the primary result of 27.5% higher yearly brain volume change per allele found in both cohorts, the exploratory metrics and the covariate test showing the atrophy result is independent of baseline lesion volume, the ENIGMA null result in non-MS participants, and the authors' own account of what remains to be established.