Molecular Basis of Primary Biliary Cirrhosis

Bassendine, Margaret F.

doi:10.1007/978-1-4419-9034-1_17

Cited by 2 publications

(1 citation statement)

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“…Primary biliary cirrhosis (PBC) is a chronic cholestatic autoimmune liver disease characterised by positive PBC‐specific autoantibodies (antimitochondrial antibodies (AMAs) in >95%), cholestatic liver function tests and diagnostic or compatible liver histology. The most widely accepted hypothesis for the development of PBC is that some environmental trigger(s) acts in a genetically predisposed host to lead to the development of AMA, which is an early event in the disease pathway (1). Familial clustering of PBC suggest that genetic factors play a significant role but the complex genetic determinants of PBC are still far from being understood (2).…”

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confidence: 99%

Chemokine receptor 5 and primary biliary cirrhosis: a two‐centre genetic association study

Baragiotta¹,

Floreani²,

Agarwal³

et al. 2004

Liver International

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Although this two-centre genetic association study is large compared with others performed in PBC, taken separately, each geographically based cohort of patients and controls is underpowered to detect a small effect of this functional polymorphism. This emphasises the need for far larger case-control collections to address which polymorphic markers or haplotypes might modify the pathogenesis and clinical course of PBC. We propose that multi-centre collaboration on an international scale in 'orphan' complex liver diseases such as (PBC) is supported by the International Association for the Study of the Liver and promoted via their journal with development of a brief format for web-based publication of studies.

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confidence: 99%