RGD Reference Report - Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population. - Rat Genome Database

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Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population.

Authors: Hashimoto, K  Maruyama, H  Nishiyama, M  Asaba, K  Ikeda, Y  Takao, T  Iwasaki, Y  Kumon, Y  Suehiro, T  Tanimoto, N  Mizobuchi, M  Nakamura, T 
Citation: Hashimoto K, etal., Horm Res. 2005;64(5):253-60. Epub 2005 Oct 27.
RGD ID: 5147646
Pubmed: PMID:16254435   (View Abstract at PubMed)
DOI: DOI:10.1159/000089293   (Journal Full-text)

BACKGROUND: It has been reported that HLA class II haplotypes DRB1*0405-DQA1*0303-DQB1*0401 and DRB1*0901-DQA1*0302-DQB1*0303 are major susceptibility haplotypes for type 1 diabetes mellitus (DM) in Japanese population. However, little has been reported on the susceptibility HLA class II haplotypes in Japanese patients with autoimmune polyglandular syndrome type II and type III (APS III). PATIENTS AND METHODS: HLA class II haplotypes of DRB1-DQA1-DQB1 in 31 patients with APS III, 14 patients with Hashimoto's thyroiditis alone, and 15 patients with Graves' disease alone were examined in Japanese population. APS III patients were divided into three groups (A, B, and C) depending on the combination of autoimmune endocrine diseases. RESULTS: In 13 APS III patients with both Hashimoto's thyroiditis and type 1 DM (group A), the haplotype frequencies of the HLA DRB1*0802-DQA1*0401-DQB1*0402 and DRB1*0901-DQA1*0302-DQB1*0303 were significantly higher than in the controls. In patients with Hashimoto's thyroiditis alone, the haplotype frequency of DRB1*0901-DQA1*0302-DQB1*0303 was significantly higher than in controls, whereas the frequency of DRB1*0802-DQA1*0401-DQB1*0402 did not differ significantly from those in the controls. In 11 APS III patients with both Graves' disease and type 1 DM (group B), the haplotype frequencies of HLA DRB1*0405-DQA1*0303-DQB1*0401 and DRB1*0802-DQA1*0301-DQB1*0302 were significantly higher than in controls. In patients with Graves' disease alone, the haplotype frequency of DRB1*0803-DQA1*0103-DQB1*0601 were significantly higher than those in controls, suggesting that the susceptibility haplotypes for group B APS III differed from those for Graves' disease alone. In 7 APS III patients with both autoimmune thyroid diseases and pituitary disorders (group C), the haplotype frequency of HLA DRB1*0405-DQA1*0303-DQB1*0401 was significantly higher than in controls. CONCLUSIONS: Susceptible HLA class II haplotypes of DRB1-DQA1-DQB1 for APS III differ between the Japanese and Caucasian populations. More interestingly, the susceptible HLA class II haplotypes differ among the three types of Japanese APS III and are not merely a combination of susceptibility haplotypes of each endocrine disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autoimmune polyendocrine syndrome susceptibilityISOHLA-DQA1 (Homo sapiens)5147646; 5147646DNA:polymorphisms:cds:HLA-DQA1*03 and HLA-DQA1*0401 (human)RGD 
autoimmune polyendocrine syndrome susceptibilityISOHLA-DQB1 (Homo sapiens)5147646; 5147646DNA:polymorphisms:cds:HLA-DQB1*0401 (human)RGD 
autoimmune polyendocrine syndrome susceptibilityISOHLA-DRB1 (Homo sapiens)5147646; 5147646DNA:polymorphisms:cds:HLA-DRB1*0405 and HLA-DRB1*0802 (human)RGD 
autoimmune polyendocrine syndrome susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DQA1*03 and HLA-DQA1*0401 (human)RGD 
autoimmune polyendocrine syndrome susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DQB1*0401 (human)RGD 
autoimmune polyendocrine syndrome susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DRB1*0405 and HLA-DRB1*0802 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormality of the thyroid gland susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DQA1*03 and HLA-DQA1*0401RGD 
Abnormality of the thyroid gland susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DQB1*0401RGD 
Abnormality of the thyroid gland susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DRB1*0405 and HLA-DRB1*0802RGD 
Autoimmune antibody positivity susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DQA1*03 and HLA-DQA1*0401RGD 
Autoimmune antibody positivity susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DQB1*0401RGD 
Autoimmune antibody positivity susceptibilityIAGP 5147646DNA:polymorphisms:cds:HLA-DRB1*0405 and HLA-DRB1*0802RGD 
Objects Annotated

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

Genes (Mus musculus)
H2-Aa  (histocompatibility 2, class II antigen A, alpha)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DQA1  (major histocompatibility complex, class II, DQ alpha 1)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information