Genetic background of autoimmune hepatitis in Japan

Yoshizawa, Kaname; Umemura, Takeji; Ôta, Masao

doi:10.1007/s00535-010-0333-2

Cited by 22 publications

(10 citation statements)

References 40 publications

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“…DRB1*0405 and DRB1*0401 have been reported to be the associated alleles in the Japanese and Korean patients, whereas studies from Thai population have reported DRB1*03 to be associated with the disease. [24][25][26][27] Studies from western India have reported increase in frequency of DRB1*13, DRB1*03, DRB1*15, DRB1*14 alleles in patient group in comparison to the controls. 28,29 Contrary to this, our study has found that DRB1*08 and DRB1*04 to be associated with the disease.…”

Section: Discussionmentioning

confidence: 99%

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population

Kaur

Minz

Anand

et al. 2014

Journal of Clinical and Experimental Hepatology

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Background: Autoimmune hepatitis is a polygenic disorder of unknown etiology, where genetic factors affect the occurrence and clinical phenotype of the disease. It has been reported as a rare disease entity in the Indian subcontinent. This study was undertaken to investigate the association of HLA alleles with autoimmune hepatitis type 1 and type 2 in north Indian population and to analyze if distinct human leukocyte antigen (HLA) alleles help in characterization of the subtypes of autoimmune hepatitis. Methods: Sixty-eight patients with autoimmune hepatitis and 128 healthy controls were recruited in the study. Out of 68 patients, 55 were diagnosed with autoimmune hepatitis type 1 and 13 with autoimmune hepatitis type 2. The patients and the controls were typed for HLA class II alleles by PCR-SSP method. Results: HLA DRB1*04 and DRB1*08 were found to be significantly associated with autoimmune hepatitis type 1 in north Indian population. It was also observed that DRB1*04, DRB1*13 were significantly associated with pediatric autoimmune hepatitis type 1 and DRB1*08 was significantly associated with adult autoimmune hepatitis type 1. DRB1*14 was significantly associated with autoimmune hepatitis type 2. Conclusion: The study indicates that autoimmune hepatitis in north Indian population is associated with HLA alleles that may help to discriminate the subtypes as autoimmune hepatitis type 1 and type 2. The study also highlights the ethnic variations in the Indian subcontinent in context to the genetic association of HLA with autoimmune diseases. ( J CLIN EXP HEPATOL 2014;4:14-18)

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Section: Discussionmentioning

confidence: 99%

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population

Kaur

Minz

Anand

et al. 2014

Journal of Clinical and Experimental Hepatology

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“…cytotoxic T cells and antibody-producing plasma cells [34,60]. DRB1*0404 and DRB1*0405 are the alleles associated with the occurrence of type 1 autoimmune hepatitis in Japan [61][62][63][64][65], mainland China [66], and Mexico [67] ( Table 1). DRB1*0405 and DQB1*0401 are the susceptibility alleles in South Korea [68]; DRB1*1301 influences disease occurrence in the children of Argentina [42,69] Dig Dis Sci and Brazil [40,70]; and DRB1*1301 and DRB1*0301 are the susceptibility alleles in Venezuela [71].…”

Section: Insights Into the Genetic Predispositions For Autoimmune Hepmentioning

confidence: 99%

Transitioning from Idiopathic to Explainable Autoimmune Hepatitis

Czaja

2015

Dig Dis Sci

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Autoimmune hepatitis lacks an identifiable cause, and its diagnosis requires the exclusion of etiologically defined diseases that resemble it. Insights into its pathogenesis are moving autoimmune hepatitis from an idiopathic to explainable disease, and the goal of this review is to describe the insights that are hastening this transition. Two types of autoimmune hepatitis are justified by serological markers, but they also have distinctive genetic associations (DRB1 and DQB1 genes) and autoantigens. DRB1 alleles are the principal susceptibility factors in white adults, and a six amino acid sequence encoded in the antigen-binding groove of class II molecules of the major histocompatibility complex can influence the selection of autoantigens. Polymorphisms, including variants of SH2B3 and CARD10 genes, may affect immune reactivity and disease severity. The cytochrome mono-oxygenase, CYP2D6, is the autoantigen associated with type 2 autoimmune hepatitis, and it shares homologies with multiple viruses that might promote self-intolerance by molecular mimicry. Chemokines, especially CXCL9 and CXCL10, orchestrate the migration of effector cells to sites of injury and are associated with disease severity. Cells of the innate and adaptive immune responses promote tissue damage, and possible deficiencies in the number and function of regulatory T cells may facilitate the injurious process. Receptor-mediated apoptosis is the principal mechanism of hepatocyte loss, and cell-mediated and antibody-dependent mechanisms of cytotoxicity also contribute. Insights that explain autoimmune hepatitis will allow triggering exogenous antigens to be characterized, risk management to be improved, prognostic indices to be refined, and site-specific therapeutic interventions to emerge.

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“…Autoimmune Hepatitis (AIH) is an organ‐specific autoimmune disease based on a genetic background that is characterized by chronic inflammation of the liver, hypergammaglobulinemia and the presence of autoantibodies . Although AIH was originally thought to be rare in Japan , data on the incidence and prevalence of AIH have been scarce due to the lack of a nationwide registry.…”

Section: Introductionmentioning

confidence: 99%