RGD Reference Report - MHC-extended haplotypes in families of patients with Graves' disease. - Rat Genome Database

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MHC-extended haplotypes in families of patients with Graves' disease.

Authors: Ratanachaiyavong, S  Lloyd, L  Darke, C  McGregor, AM 
Citation: Ratanachaiyavong S, etal., Hum Immunol. 1993 Feb;36(2):99-111.
RGD ID: 7365112
Pubmed: PMID:8096501   (View Abstract at PubMed)

MHC-extended haplotypes were investigated in multiplex families of patients with hyperthyroid GD. Using a combination of both phenotypic (serology and protein electrophoresis) and genotypic (DNA-RFLP) markers, 159 MHC-extended haplotypes extending from HLA-A across the MHC class III (C2, Bf, C4A, and C4B) toward the HLA-DR/DQ complex were deduced from 217 (51 and 166 affected and unaffected) members of 21 families of patients with GD. Thyroid autoantibodies were measured and found positive in 27.1% of 166 clinically euthyroid unaffected members. Extended haplotypes were classified into four categories--affected (n = 40), Aff/Ab + ve (shared haplotype between affected and Ab + ve members, n = 31), Ab + ve (n = 29), and Ab - ve (n = 59)--based on the presence and absence of these haplotypes in 51 affected members with GD and 45 and 121 unaffected members who were respectively positive and negative for thyroid autoantibodies. Five recombinations were detected: three were found between HLA-A and B and two between HLA-B and the MHC class III. No recombination was found between or within the MHC class III and class II complex. Though the HLA-DR17 (DR beta 17(1) and DR beta 17(2)) allele was found to be significantly increased in both the affected and the Aff/Ab + ve when compared with the Ab - ve haplotypes (p < 0.042 and p < 0.018), the frequency of the HLA-B8, 2.7-kb SstI-4.5-kb TaqI/C2 Bf*S, 6.4-kb TaqI/C4A*Q0C4B*1, HLA-DR beta 17(1)/DQ alpha 2-DQ beta 2a extended haplotype was found to be significantly increased only in the affected haplotype (p < 0.05). These results suggest that while HLA-DR17 is a susceptibility allele shared between GD and individuals with positive thyroid autoantibodies, the HLA-B8, 2.7-kb SstI-4.5-kb TaqI/5'-3'C2 Bf*S, 6.4-kb TaqI/C4A*Q0B*1, DR beta 17(1)/DQ alpha 2-DQ beta 2a is a disease susceptibility-extended haplotype for Graves' disease.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Q4MouseGraves' disease susceptibilityISOHLA-B (Homo sapiens)DNA:polymorphisms and haplotype:cds:HLA-B8 (human) RGD 
HLA-BHumanGraves' disease susceptibilityIAGP DNA:polymorphism and haplotype:cds:HLA-B8 (human)RGD 
RT1-CE13RatGraves' disease susceptibilityISOHLA-B (Homo sapiens)DNA:polymorphisms and haplotype:cds:HLA-B8 (human) RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HLA-BHumanAutoimmune antibody positivity susceptibilityIAGP DNA:polymorphism and haplotype:cds:HLA-B8RGD 
HLA-BHumanHyperthyroidism susceptibilityIAGP DNA:polymorphism and haplotype:cds:HLA-B8RGD 
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