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Article

Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.

Journal of human genetics - 1 Dec 2024

Orimo Kenta, Mitsui Jun, Matsukawa Takashi, Tanaka Masaki, Nomoto Junko, Ishiura Hiroyuki, Omae Yosuke, Kawai Yosuke, Tokunaga Katsushi, Toda Tatsushi, Tsuji Shoji

Abstract excerpt

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by various combinations of autonomic failure, parkinsonism, and cerebellar ataxia. To elucidate variants associated with MSA, we have been conducting short-read-based whole-genome sequence analysis. In the process of the association studies, we initially focused on GBA1, a previously proposed susceptibility gene for MSA, to evaluate...

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Identifiers

PMID: 39020124
DOI: 10.1038/s10038-024-01266-1
PMCID: PMC11599039

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