Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: Critical evaluation of an association with HLA-DR3

P. Price; L. Santoso; F. Mastaglia; M. Garlepp; C.C. Kok; R. Allcock; N. Laing

doi:10.1111/j.1399-0039.2004.00310.x

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Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: Critical evaluation of an association with HLA-DR3

Journal article

Peer reviewed

Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: Critical evaluation of an association with HLA-DR3

P. Price, L. Santoso, F. Mastaglia, M. Garlepp, C.C. Kok, R. Allcock and N. Laing

Tissue Antigens, Vol.64(5), pp.575-580

2004

DOI: https://doi.org/10.1111/j.1399-0039.2004.00310.x

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Abstract

Previous studies of sporadic inclusion body myositis (sIBM) have shown a strong association with HLA-DR3 and other components of the 8.1 ancestral haplotype (AH) (HLA-A1, B8, DR3), where the susceptibility locus has been mapped to the central major histocompatibility complex (MHC) region between HLA-DR and C4. Here, the association with HLA-DR3 and other genes in the central MHC and class II region was further investigated in a group of 42 sIBM patients and in an ethnically similar control group (n = 214), using single-nucleotide polymorphisms and microsatellite screening. HLA-DR3 (marking DRB1*0301 in Caucasians) was associated with sIBM (Fisher's test). However, among HLA-DR3-positive patients and controls, carriage of HLA-DR3 without microsatellite and single-nucleotide polymorphism alleles of the 8.1AH (HLA-A1, B8, DRB3*0101, DRB1*0301, DQB1*0201) was marginally less common in patients. Patients showed no increase in carriage of the 18.2AH (HLA-A30, B18, DRB3*0202, DRB1*0301, DQB1*0201) or HLA-DR3 without the central MHC of the 8.1AH, further arguing against HLA-DRB1 as the direct cause of susceptibility. Genes between HLA-DRB1 and HOX12 require further investigation. BTL-II lies in this region and is expressed in muscle. Carriage of allele 2 (exon 6) was more common in patients. BTL-II(E6)*2 is characteristic of the 35.2AH (HLA-A3, B35, DRB1*01) in Caucasians and HLA-DR1, BTL-II(E6)*2, HOX12*2, RAGE*2 was carried by several patients. The 8.1AH and 35.2AH may confer susceptibility to sIBM independently or share a critical allele.

Details

Title: Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: Critical evaluation of an association with HLA-DR3
Authors/Creators: P. Price (Author/Creator)
L. Santoso (Author/Creator)
F. Mastaglia (Author/Creator)
M. Garlepp (Author/Creator)
C.C. Kok (Author/Creator)
R. Allcock (Author/Creator)
N. Laing (Author/Creator)
Publication Details: Tissue Antigens, Vol.64(5), pp.575-580
Publisher: Blackwell Publishing
Identifiers: 991005543479607891
Copyright: 2004 Blackwell Munksgaard
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.106 Rheumatology; 1.106.1684 Dermatomyositis
Web Of Science research areas: Cell Biology; Immunology; Pathology
ESI research areas: Molecular Biology & Genetics