HLA-DR Polymorphism and Primary Biliary Cirrhosis: Evidence From a Meta-analysis

Li, Man; Zheng, Hao; Tian, Qing‐Bao; Rui, Mei-na; Liu, Dianwu

doi:10.1016/j.arcmed.2014.03.002

Cited by 21 publications

(16 citation statements)

References 100 publications

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“…Based on these findings, subsequent cumulative studies have provided evidence that PBC is associated with DRB1 ∗ 08 as predisposing and DRB1 ∗ 11 and DRB1 ∗ 13 as protective alleles [ 28 , 38 ]. Li et al conducted a meta-analysis to assess for relationships between HLA class II and disease susceptibility to PBC and demonstrated that HLA DR ∗ 07 and ∗ 08 alleles were risk factors for PBC in certain populations, whereas DR ∗ 11 , ∗ 12 , ∗ 13, and ∗ 15 alleles were protective factors [ 39 ].…”

Section: Associations Between Hla and Pbc Susceptibilitymentioning

confidence: 99%

Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

Joshita

Umemura

Tanaka

et al. 2017

Journal of Immunology Research

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Formerly termed primary biliary cirrhosis, primary biliary cholangitis (PBC) is a chronic and progressive cholestatic liver disease characterized by the presence of antimitochondrial antibodies. Ursodeoxycholic acid (UDCA) therapy is the most effective and approved treatment for PBC and leads to a favorable outcome in the vast majority of cases. Although the etiology of PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles have been consistently associated with disease onset for decades. Individuals in different geographic regions of the world may have varying susceptibility alleles that reflect indigenous triggering antigens. In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies (GWAS) on this disease.

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Section: Associations Between Hla and Pbc Susceptibilitymentioning

confidence: 99%

Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

Joshita

Umemura

Tanaka

et al. 2017

Journal of Immunology Research

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show abstract

“…Based on their findings, subsequent cumulative studies have provided evidence that PBC is associated with DRB1*08 as a predisposing allele and DRB1*11 and DRB1*13 as protective alleles [47,48]. Li et al conducted a meta-analysis to assess for relationships between HLA class II and disease susceptibility to PBC and demonstrated that HLA DR*07 and *08 alleles were risk factors for PBC in certain populations, while DR*11, *12, *13, and *15 alleles were protective factors [49].…”

Section: Associations Between Hla and Pbc Susceptibilitymentioning

confidence: 99%

Genetics and epigenetics in the pathogenesis of primary biliary cholangitis

Joshita

Umemura

Tanaka

et al. 2017

Clin J Gastroenterol

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Primary biliary cholangitis (PBC) is a chronic, slowly progressive cholestatic autoimmune liver disease predominantly afflicting women. PBC is characterized by the presence of disease-specific antimitochondrial antibodies and the histological destruction of intrahepatic bile ducts, which eventually lead to cirrhosis and hepatic failure. Fortunately, ursodeoxycholic acid therapy has improved the outcome of the vast majority of PBC cases. Although the etiology of PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles have been consistently associated with disease onset for decades. PBC patients may also have genetically determined risk factors in non-HLA regions. Meanwhile, exposure to environmental factors, such as infectious diseases and harmful chemicals, can produce epigenetic alterations in some individuals and subsequent PBC onset. In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies on this disease and its future prospects in terms of epigenetics.

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“…HLA, due to its specific identifying and binding property of antigenic molecules, plays a key role in CD4 + and CD8 + T‐cell responses of immune functions and the process of inflammation and immune response (Wang et al ., ). In the past decade, polymorphisms in the HLA region show strong evidence of association with inflammation, virus infection, tumours and autoimmune diseases including primary biliary cirrhosis (PBC) (Li et al ., ), rheumatoid arthritis (RA) (Kochi et al ., ), insulin‐dependent diabetes mellitus (IDDM) (Stankov et al ., ), tuberculosis (TB) (Kuranov et al ., ) and arthritis (Pham et al ., ). In this study, genetic loci rs3129878 and rs7194 (HLA‐DRA, the HLA class II region) and rs498422 (chromosome 6 open reading frame 10 (C6orf10), near HLA class II region) were significantly associated with NOA in our Chinese population.…”

Section: Discussionmentioning

confidence: 99%

Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population

et al. 2016

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The exact aetiology and pathogenesis of most non-obstructive azoospermia (NOA) are still unknown. The previous two genomewide association studies (GWASs) have identified three different loci within the HLA region for NOA in the Han Chinese population, including rs3129878, rs498422 and rs7194. To further validate the risk of three GWAS-linked loci for NOA, we conducted a case-control study of these three risk loci in an independent Han Chinese male population, with 603 NOA patients and 610 controls. Furthermore, we also performed a meta-analysis of five studies on these three NOA-risk loci. The case-control study strongly suggested a significant association between loci rs3129878, rs498422 and rs7194 and NOA (P = 6.75 × 10 (OR = 2.2586), P = 0.0060 (OR = 1.4013) and P = 0.0128 (OR = 1.2626) respectively). Our meta-analyses also supported the susceptibility of these three risk loci to NOA (P < 0.01). The risk variants within the HLA region potentially have a strong effect on males at risk of NOA, and may serve as diagnostic markers for male infertility. However, considering genetic difference between different populations, future validating studies in larger independent samples and animal experiments are suggested.

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HLA-DR Polymorphism and Primary Biliary Cirrhosis: Evidence From a Meta-analysis

Cited by 21 publications

References 100 publications

Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

Genetics and epigenetics in the pathogenesis of primary biliary cholangitis

Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population

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