Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

doi:10.1016/j.neurobiolaging.2016.07.024

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Article

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiology of aging - 1 Nov 2016

Gang Qiang, Bettencourt Conceição, Machado Pedro M, Brady Stefen, Holton Janice L, Pittman Alan M, Hughes Deborah, Healy Estelle, Parton Matthew, Hilton-Jones David, Shieh Perry B, Needham Merrilee, Liang Christina, Zanoteli Edmar, de Camargo Leonardo Valente, De Paepe Boel, De Bleecker Jan, Shaibani Aziz, Ripolone Michela, Violano Raffaella, Moggio Maurizio, Barohn Richard J, Dimachkie Mazen M, Mora Marina, Mantegazza Renato, Zanotti Simona, Singleton Andrew B, Hanna Michael G, Houlden Henry

Abstract excerpt

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and...

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Identifiers

PMID: 27594680
DOI: 10.1016/j.neurobiolaging.2016.07.024
PMCID: PMC5082791

Genes

SQSTM1
VCP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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