RGD Reference Report - Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis. - Rat Genome Database

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Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis.

Authors: Yoshizawa, K  Ota, M  Katsuyama, Y  Ichijo, T  Matsumoto, A  Tanaka, E  Kiyosawa, K 
Citation: Yoshizawa K, etal., J Hepatol. 2005 Apr;42(4):578-84. Epub 2005 Jan 21.
RGD ID: 5147652
Pubmed: PMID:15763345   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jhep.2004.12.019   (Journal Full-text)

BACKGROUND/AIMS: Genetic predisposition to type 1 autoimmune hepatitis (AIH) is linked mainly to HLA-class II genes. The aim of this study is to scan the HLA region for additional genes which may contribute to type 1 AIH susceptibility. METHODS: We performed association analysis using HLA class I and II alleles and 18 polymorphic microsatellite markers distributed throughout the HLA region. We specifically assessed tumor necrosis factor (TNF)-alpha gene polymorphisms. RESULTS: The frequencies of HLA-DRB1*0405, DRB4 and DQB1*0401 alleles were significantly higher in AIH patients. The association study revealed the presence of three segments in the HLA region showing significantly low P (Pc) values. The first segment was located around the HLA-DR/-DQ subregion, the second was around the HLA-B54 allele, and the third was around two microsatellites near the TNF gene cluster. However, stratification analysis for the effect of DRB1*0405 eliminated association of the latter two segments. Haplotype D of the TNF-alpha promoter gene polymorphisms was weakly associated with susceptibility, but was found to be not significant after stratification analysis. CONCLUSIONS: The most influential gene on type 1 AIH pathogenesis in Japanese is the HLA-DRB1. Other genes in the HLA region, including TNF-alpha, have little or no association with type 1 AIH susceptibility.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autoimmune hepatitis susceptibilityISOHLA-DRB1 (Homo sapiens)5147652; 5147652DNA:polymorphism (human)RGD 
autoimmune hepatitis susceptibilityIAGP 5147652DNA:polymorphism (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