RGD Reference Report - Associations of major histocompatibility complex class I chain-related molecule polymorphisms with Behcet's disease in Caucasian patients. - Rat Genome Database

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Associations of major histocompatibility complex class I chain-related molecule polymorphisms with Behcet's disease in Caucasian patients.

Authors: Hughes, EH  Collins, RW  Kondeatis, E  Wallace, GR  Graham, EM  Vaughan, RW  Stanford, MR 
Citation: Hughes EH, etal., Tissue Antigens. 2005 Sep;66(3):195-9.
RGD ID: 7364873
Pubmed: PMID:16101830   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-0039.2005.00465.x   (Journal Full-text)

HLA-B*51 is known to be associated with Behcet's disease (BD) in many ethnic groups. The pathogenic gene, however, may lie close to the HLA-B locus and therefore be in linkage disequilibrium with HLA-B*51. On the basis of the proximity of MIC genes to HLA-B, their expression pattern and their affinity for the activating NKG2D receptor on natural killer (NK) cells and gammadelta T cells, these molecules have been postulated as susceptibility factors in BD. DNA from 56 western European Caucasians with BD and 90 Caucasian controls were analysed by polymerase chain reaction using allele-specific primers for MICA and MICB alleles. An increased allele frequency of MICA*009 was found in the BD patient group (25.0%) when compared with the controls (7.2%). This was associated with a corresponding decrease in MICA*008 in the BD patients (36.6%) compared with the controls (46.7%), which was not significant. MICA*009 was strongly associated with the presence of HLA-B*51 in patients and controls. No significant difference in frequency of MICB alleles was found between patients and controls. Both HLA-B*51 and MICA*009 are strongly associated with BD in a pure Caucasian BD patient group, and the two alleles are in linkage disequilibrium. No MICB allele was found to associate significantly with the disease, an unexpected finding considering the close proximity of the MICA and MICB loci. Our results suggest that while MICB does not influence the development of BD, polymorphisms in MICA may be pathogenic, perhaps through the interaction with NK and gammadelta T cells.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease  ISOHLA-B (Homo sapiens)7364873; 7364873DNA:polymorphisms:cds:HLA-B*51 (human)RGD 
Behcet's disease  IAGP 7364873DNA:polymorphism:cds:HLA-B*51 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Genital ulcers  IAGP 7364873DNA:polymorphism:cds:HLA-B*51RGD 
Oral ulcer  IAGP 7364873DNA:polymorphism:cds:HLA-B*51RGD 
Uveitis  IAGP 7364873DNA:polymorphism:cds:HLA-B*51RGD 
Vasculitis  IAGP 7364873DNA:polymorphism:cds:HLA-B*51RGD 
Objects Annotated

Genes (Rattus norvegicus)
RT1-CE13  (RT1 class I, locus CE13)

Genes (Mus musculus)
H2-Q4  (histocompatibility 2, Q region locus 4)

Genes (Homo sapiens)
HLA-B  (major histocompatibility complex, class I, B)


Additional Information