• J. Neuroimmunol. · Sep 2012

    Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis.

    • Adrian P Scott, Nigel G Laing, Frank Mastaglia, Marinos Dalakas, Merrilee Needham, and Richard J N Allcock.
    • School of Pathology and Laboratory Medicine, M504, University of Western Australia, Stirling Highway, Nedlands 6009, Perth, Australia. ascott@mmri.mater.org.au
    • J. Neuroimmunol. 2012 Sep 15; 250 (1-2): 66-70.

    AbstractThe 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.Copyright © 2012 Elsevier B.V. All rights reserved.

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