Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis

A.P. Scott; N.G. Laing; F. Mastaglia; M. Dalakas; M. Needham; R.J.N. Allcock

doi:10.1016/j.jneuroim.2012.04.021

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Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis

Journal article

Peer reviewed

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis

A.P. Scott, N.G. Laing, F. Mastaglia, M. Dalakas, M. Needham and R.J.N. Allcock

Journal of Neuroimmunology, Vol.250(1-2), pp.66-70

2012

DOI: https://doi.org/10.1016/j.jneuroim.2012.04.021

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Abstract

The NOTCH4 gene, located within the MHC region, is involved in cellular differentiation and has varying effects dependent on tissue type. Coding region polymorphisms haplotypic of the sIBM-associated 8.1 ancestral haplotype were identified in NOTCH4 and genotyped in two different Caucasian sIBM cohorts. In both cohorts the frequency of the minor allele of rs422951 and the 12-repeat variation for rs72555375 was increased and was higher than the frequency of the sIBM-associated allele HLA-DRB1*0301. These NOTCH4 polymorphisms can be considered to be markers for sIBM susceptibility, but require further investigation to determine whether they are directly involved in the disease pathogenesis.

Details

Title: Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis
Authors/Creators: A.P. Scott (Author/Creator) - The University of Western Australia
N.G. Laing (Author/Creator) - The University of Western Australia
F. Mastaglia (Author/Creator) - Queen Elizabeth II Medical Centre
M. Dalakas (Author/Creator) - National and Kapodistrian University of Athens
M. Needham (Author/Creator) - Royal North Shore Hospital
R.J.N. Allcock (Author/Creator) - The University of Western Australia
Publication Details: Journal of Neuroimmunology, Vol.250(1-2), pp.66-70
Publisher: Elsevier
Identifiers: 991005545170807891
Copyright: © 2012 Elsevier B.V
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.106 Rheumatology; 1.106.1684 Dermatomyositis
Web Of Science research areas: Immunology; Neurosciences
ESI research areas: Neuroscience & Behavior