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

Kaur, Neeraj; Minz, Ranjana Walker; Anand, Shashi; Saikia, Biman; Aggarwal, Ritu; Das, Ashim; Thapa, Babu Ram; Chawla, Yogesh

doi:10.1016/j.jceh.2013.12.002

Cited by 18 publications

(22 citation statements)

References 34 publications

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“…Different risk alleles have been reported in other population cohort of patients with AIH type 1, confirming that there is a well‐identified inter‐population variability in HLA‐associated susceptibility …”

Section: The 81 Ah and Aidssupporting

confidence: 66%

“…28 Different risk alleles have been reported in other population cohort of patients with AIH type 1, confirming that there is a well-identified inter-population variability in HLAassociated susceptibility. [37][38][39][40][41][42][43] PSC and PBC are rare cholestatic liver diseases characterized by inflammation and fibrosis of intra-and extra hepatic bile ducts. PSC and PBC patients more frequently develop cirrhosis and require for liver transplantation.…”

Section: Autoimmune Liver Diseases: Autoimmune Hepatitis Sclerosinmentioning

confidence: 99%

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Autoimmune diseases and 8.1 ancestral haplotype: An update

Gambino

Aiello

Accardi

et al. 2018

HLA

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The aim of the present review is to provide an update of the current research into the pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype. This is a common Caucasoid haplotype carried by most people who type for HLA-B8, DR3. Numerous genetic studies reported that individuals with certain HLA alleles have a higher risk of specific autoimmune disorders than those without these alleles. However, much remains to be learned about the heritability of autoimmune conditions. Recently, progress and advances in the field of genome-wide-association studies have revolutionized the capacity to perform large, economically feasible, and statistically robust analyses of HLA within 8.1 ancestral haplotype, and understand its contribute to autoimmune events. In this paper, the characteristic features of this haplotype that might give rise to diverse autoimmune phenotypes are reviewed, focusing on the contribution of the HLA-DRB1 gene, the most polymorphic sequence within the HLA II region.

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Section: The 81 Ah and Aidssupporting

confidence: 66%

Section: Autoimmune Liver Diseases: Autoimmune Hepatitis Sclerosinmentioning

confidence: 99%

Autoimmune diseases and 8.1 ancestral haplotype: An update

Gambino

Aiello

Accardi

et al. 2018

HLA

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“…In addition, several studies have shown that DRB1*04 : 04 , *04 : 05 , and *13 : 01 are associated with AIH in Latin America [ 10 , 11 , 12 , 13 ]. DRB1*08 alleles are also reported to be associated with AIH in Indian and Iranian, but not in Pakistani populations [ 14 , 15 , 16 ]. On the other hands, DRB1*15 : 01 is protective for the susceptibility of AIH in European and Japanese populations [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

HLA-DRB1 and DQB1 alleles in Japanese type 1 autoimmune hepatitis: The predisposing role of the DR4/DR8 heterozygous genotype

et al. 2017

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ObjectiveAutoimmune hepatitis (AIH) is a chronic progressive liver disease. AIH is composed predominantly of type 1 in Japanese populations. The genetic and environmental factors are associated with the pathogenesis of AIH. HLA-DRB1*03:01 and *04:01 are associated with type 1 AIH in European and *04:05 in Japanese populations. Here, we conducted an HLA association study in order to find HLA alleles or haplotypes predisposing or protective for Japanese AIH.MethodsHLA-DRB1 and DQB1 genotyping of 360 type 1 AIH patients and 1026 healthy controls was performed.ResultsThe predisposing association of DRB1*04:01 (P = 0.0006, corrected P [Pc] = 0.0193, odds ratio [OR] 2.97, 95% confidence interval [CI] 1.62–5.43), DRB1*04:05 (P = 1.89×10−21, Pc = 5.86×10−20, OR 3.41, 95% CI 2.65–4.38), and DQB1*04:01 (P = 4.66×10−18, Pc = 6.99×10−17, OR 3.89, 95% CI 2.84–5.33) and the protective association of DRB1*13:02 (P = 0.0003, Pc = 0.0080, OR 0.48, 95% CI 0.32–0.72) with Japanese type 1 AIH were observed. An association of the DR4/DR8 heterozygous genotype with Japanese AIH was identified for the first time (P = 3.12×10−9, OR 3.52, 95% CI 2.34–5.29). Susceptible diplotypes were DRB1*04:05-DQB1*04:01/DRB1*08:02-DQB1*03:02 (P = 0.0004, OR 24.77, 95% CI 1.45–424.31) and DRB1*04:05-DQB1*04:01/DRB1*08:03-DQB1*06:01 (P = 1.18×10−6, OR 10.64, 95% CI 3.19–35.46). Serum levels of Immunoglobulin G and Immunoglobulin M, International Autoimmune Hepatitis Group score, positive rate of anti-smooth muscle antibodies, and the rate of definite AIH were higher in AIH patients with DRB1*04:05 than without.ConclusionsThe important roles of specific combinations of DRB1 and DQB1 alleles or haplotypes in the pathogenesis of type 1 AIH were suggested. The association of DR4/DR8 heterozygous genotype suggested the pathologic importance of trans-complementing DQα-β heterodimer molecules encoded by DQA1 allele of one haplotype and the DQB1 allele of the other haplotype, as it was proposed in the HLA association studies of Type 1 diabetes.

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“…Of note, DQB1*0201 is in a strong linkage disequilibrium with DRB1*07 and DRB1*03 . Moreover, the HLA DRB1*14 allele indicated a high risk of AIH‐2 in a north Indian population …”

Section: Exploration Of Susceptible Genesmentioning

confidence: 96%

Precision medicine for autoimmune hepatitis

Chen

Wang

2019

J of Digest Diseases

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Autoimmune hepatitis (AIH) is an autoimmune liver disease induced by environmental factors in genetically susceptible individuals. AIH is characterized by hypergammaglobulinemia, elevation of serum autoantibodies and transaminases, and interface hepatitis. Personalized therapy is necessary in AIH because of its heterogeneity in clinical manifestations. Precision medicine is a recent and novel therapeutic pattern which ultimately aims to achieve personalized therapy. In this review we summarize the research progress of precision medicine to treat AIH by an exploration of the susceptible genes, precision diagnosis and prognosis of AIH, pharmacogenomics and precision medication, and the precision treatment for special types of AIH.

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

Cited by 18 publications

References 34 publications

Autoimmune diseases and 8.1 ancestral haplotype: An update

Autoimmune diseases and 8.1 ancestral haplotype: An update

HLA-DRB1 and DQB1 alleles in Japanese type 1 autoimmune hepatitis: The predisposing role of the DR4/DR8 heterozygous genotype

Precision medicine for autoimmune hepatitis

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