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

Tissue Antigens. 2004 Nov;64(5):575-80. doi: 10.1111/j.1399-0039.2004.00310.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Butyrophilins
  • Genetic Predisposition to Disease*
  • HLA-B8 Antigen / genetics
  • HLA-B8 Antigen / immunology
  • HLA-DR3 Antigen / genetics*
  • HLA-DR3 Antigen / immunology
  • Haplotypes / genetics
  • Haplotypes / immunology
  • Humans
  • Major Histocompatibility Complex / genetics*
  • Major Histocompatibility Complex / immunology
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / immunology
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / immunology

Substances

  • BTNL2 protein, human
  • Butyrophilins
  • HLA-B8 Antigen
  • HLA-DR3 Antigen
  • Membrane Glycoproteins