Genetic association of <i>Fc receptor‐like 3</i> polymorphisms with susceptibility to primary biliary cirrhosis: ethnic comparative study in Japanese and Italian patients

Tanaka, Atsushi; Ohira, Hiromasa; Kikuchi, Kentaro; Nezu, Saeko; Shibuya, Akitaka; Bianchi, Ilaria; Podda, Mauro; Invernizzi, Pietro; Takikawa, Hajime

doi:10.1111/j.1399-0039.2010.01600.x

Cited by 22 publications

(14 citation statements)

References 34 publications

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“…The same authors also suggested an interaction between CTLA-4 and programmed cell-death 1 gene variants (35). Additionally, because the genetic background may greatly varies among different ethnic groups, our group evaluated the association of other candidate genes in PBC by comparing multiple cohorts from different ethnic populations (38, 39). Finally, a recent French study has reported that the progression rate of liver disease under ursodeoxycholic acid therapy was significantly linked to variants of TNF and AE2 genes (40).…”

Section: Highlights Of Genetic Predisposition In Pbcmentioning

confidence: 99%

Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving

Invernizzi

2011

Hepatology

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Primary biliary cirrhosis (PBC) is an autoimmune biliary disease characterized by injury of small and medium size bile ducts eventually leading to liver cirrhosis and death. While the causes remain enigmatic, recent evidence has strengthened the importance of genetic factors in determining the susceptibility to the disease. Besides the strong heritability suggested by familial occurrence and monozygotic twins concordance, for decades there has not been a clear association with specific genes, with the only exception of a low risk conferred by a class II human leukocyte antigen (HLA) variant, the DRB1*08 allele, at least in some populations. Only recently the story began to change when a strong protective associations between PBC and the HLA DRB1*11 and DRB1*13 alleles were found in Italian and UK series. But HLA genes fully returned to attract interest thanks to recent genome-wide association studies (GWAS) which clearly demonstrated that the major component of the genetic architecture of PBC are within the HLA region. As expected in a genetically complex disease, GWAS also identified several novel non-HLA variants, but it is to note that all of them are in immuno-related genes. In this review, the paradigmatic tale of what, and how, we learned about HLA genes in PBC will be retraced with particular focus on how GWAS are enabling us to rewrite the story of PBC pathogenesis. These recent discoveries will not only driving functional studies but will also held the promise of developing novel disease-specific treatments.

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Section: Highlights Of Genetic Predisposition In Pbcmentioning

confidence: 99%

Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving

Invernizzi

2011

Hepatology

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“…Genetic and environmental factors are likely involved, as indicated in twin and familial studies [53, 94–97]. Genome-wide association studies (GWASs) have allowed for the identification of genetic associations for PBC [39, 66, 67, 98–102]. In vitro studies have implicated antigen-specific B-, CD4, CD8 T-lymphocyte responses in the induction and/or maintenance of autoaggressive pathology [44, 47, 48, 61, 88, 89, 103].…”

Section: Introductionmentioning

confidence: 99%

Sex Differences Associated with Primary Biliary Cirrhosis

Smyk

Rigopoulou

Pares

et al. 2012

Clinical and Developmental Immunology

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Primary biliary cirrhosis (PBC) is a cholestatic liver disease of autoimmune origin, characterised by the destruction of small intrahepatic bile ducts. The disease has an unpredictable clinical course but may progress to fibrosis and cirrhosis. The diagnostic hallmark of PBC is the presence of disease-specific antimitochondrial antibodies (AMA), which are pathognomonic for the development of PBC. The disease overwhelmingly affects females, with some cases of male PBC being reported. The reasons underlying the low incidence of males with PBC are largely unknown. Epidemiological studies estimate that approximately 7–11% of PBC patients are males. There does not appear to be any histological, serological, or biochemical differences between male and female PBC, although the symptomatology may differ, with males being at higher risk of life-threatening complications such as gastrointestinal bleeding and hepatoma. Studies on X chromosome and sex hormones are of interest when studying the low preponderance of PBC in males; however, these studies are far from conclusive. This paper will critically analyze the literature surrounding PBC in males.

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“…Both, autoimmunity [22] and environmental factors [23,24] have been emphasized while several genetic associations in particular with recent genome-wide analyses [25][26][27] have been published. However this is a very general description that may fit to other diseases as distant to PBC as inflammatory bowel disease, rheumatoid arthritis or Hashimoto's thyroiditis.…”

Section: Pathogenesismentioning

confidence: 99%

Primary biliary cirrhosis: From bench to bedside

Notas

2015

WJGPT

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Primary biliary cirrhosis (PBC) is a chronic nonsuppurative destructive intrahepatic cholangitis leading to cirrhosis after a protractive non cirrhotic stage. The etiology and pathogenesis are largely unknown and autoimmne mechanisms have been implicated to explain the pathological lesions. Many epitopes and autoantigens have been reported as crucial in the pathophysiology of the disease and T and B cells abnormalities have been described, the exact pathways leading to the destruction of small intrahepatic ductules are mostly speculative. In this review we examined the various epidemiologal and geoepidemiological data as well as the complex pathogenetic aspects of this disease, focusing on recent in vivo and in vitro studies in this field. Initiation and progression of PBC is believed to be a multifactorial process with strong infuences from the patient's genetic background and by various environmental factors. The role of innate and adaptive immunity, including cytokines, chemokines, macrophages and the involvement of apoptosis and reactive oxygen species are outlined in detailed. The current pathogenetic aspects are presented and a novel pathogenetic theory unifying the accumulated clinical information with in vitro and in vivo data is formulated.A review of clinical manifestations and immunological and pathological diagnosis was presented. Treatment modalities, including the multiple mechanisms of action of ursodeoxycholate were finally discussed. Core tip: Primary biliary cirrhosis (PBC) is a chronic nonsuppurative destructive intrahepatic cholangitis leading to cirrhosis of largely unknown pathophysiology. We examined the epidemiological and geoepidemiological data as well as the pathogenetic aspects of PBC. A novel pathogenetic theory unifying the accumulated clinical information with in vitro and in vivo data is formulated.

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Genetic association of Fc receptor‐like 3 polymorphisms with susceptibility to primary biliary cirrhosis: ethnic comparative study in Japanese and Italian patients

Cited by 22 publications

References 34 publications

Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving

Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving

Sex Differences Associated with Primary Biliary Cirrhosis

Primary biliary cirrhosis: From bench to bedside

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