Answers are grounded in this paper and cite their sources.
The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural forms of 17q21.31, characterized by the copy number of α, β, and γ duplications, have been identified. However, the specific effect of each structural form on the risk of PSP has never been evaluated in a large cohort study.
No takes yet. Share an insight, caveat, or question.
Wang et al. (2024) studied this question.
Synapse has enriched 8 closely related papers on similar clinical questions. Consider them for comparative context: