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Association of MAPT subhaplotypes with risk of progressive supranuclear palsy and severity of tau pathology

JAMA Jun 14, 2019

Heckman MG, et al. - In a case-control study of 802 patients with progressive supranuclear palsy (PSP), the researchers intended to comprehensively evaluate the associations of MAPT haplotypes with the risk of PSP and the severity of tau pathology. Known associations with risk of PSP were observed for the H2 and H1c haplotypes. Nominally associated three of the PSP risk haplotype, H2, H1c, and H1d with severity measures of tau pathology in PSP cases were noticed. Hence the authors, identified the novel associations with risk of PSP for 3 MAPT H1 subhaplotypes. Furthermore, potentially weaker correlations among several haplotypes and severity of tau pathology were observed expanding the current understanding of the role of MAPT haplotypic variation in susceptibility to and neuropathologic severity of PSP.
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