RGD Reference Report - HLA DQA1*0501 and DRB1*0301 antigens do not independently convey susceptibility to Graves' disease. - Rat Genome Database

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HLA DQA1*0501 and DRB1*0301 antigens do not independently convey susceptibility to Graves' disease.

Authors: Philippou, G  Krimitzas, A  Kaltsas, G  Anastasiou, E  Souvatzoglou, A  Alevizaki, M 
Citation: Philippou G, etal., J Endocrinol Invest. 2001 Feb;24(2):88-91.
RGD ID: 7365089
Pubmed: PMID:11263477   (View Abstract at PubMed)
DOI: DOI:10.1007/BF03343819   (Journal Full-text)

Genes of, or closely associated to, the HLA complex are assumed to contribute to the genetic predisposition of Graves' disease. The aim of this study was to investigate the presence of the HLA DQA1*0501 and DRB1*0301 antigens in Greek patients with Graves' disease. In addition, we tried to establish if there is any association between these antigens and any of the clinical manifestations of the disease. We examined 117 patients with Graves' disease and 104 healthy controls. DNA was extracted from peripheral lymphocytes and the HLA DQA1*0501 and DRB1*0301 genomic regions were amplified by PCR and characterized by hybridization with sequence specific oligonucleotides (SSO). Two of the patients had a positive family history for Graves' disease and 46 had clinical thyroid eye disease (TED). The frequencies of both DQA1*0501 and DRB1*0301 antigens were significantly increased in patients compared to controls (relative risk [RR] 4.2 and 4.5 for each antigen respectively). Neither of these two antigens was an independent risk factor for Graves' disease. However, the combination of both these HLA antigens resulted in a striking increase in the RR for development of Graves' disease especially in females (RR/F=27, RR/M=8.4). No association was found between these antigens and positive family history or the presence of TED. These data suggest that HLA DQA1*0501 and DRB1*0301 antigens are not independent risk factors for the development of Graves' disease. On the contrary, the presence of both these alleles results in a significant increase in the RR for the development of Graves' disease in the Greek population, particularly in females.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Graves' disease susceptibilityISOHLA-DRB1 (Homo sapiens)7365089; 7365089DNA:polymorphism: :HLA-DRB1*0301(human)RGD 
Graves' disease susceptibilityIAGP 7365089DNA:polymorphism: :HLA-DRB1*0301(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information