Prevalence and pattern of familial disease in primary biliary cirrhosis.

Brind, AM; Bray, G.; Portmann, Bernard; Williams, Roger

doi:10.1136/gut.36.4.615

Cited by 96 publications

(64 citation statements)

References 22 publications

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“…We found that 2% of PBC cases had first-degree relatives with PBC, which was lower than the proportion observed in some of the other studies. [18][19][20] One of these studies was also based in the Northeast of England, and reported that the prevalence of PBC among first-degree relatives was 5%. However, the study by Jones et al 20 had few cases in common with the current study, because of a different choice of study area and period.…”

Section: Discussionmentioning

confidence: 99%

An exploratory population-based case-control study of primary biliary cirrhosis

et al. 2000

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Primary biliary cirrhosis (PBC) is a disease of unknown etiology, with unexplained geographical variation. Various exposures have been suggested as triggers for disease development-possibly in susceptible individuals, but the evidence was not always well founded. We therefore conducted a population-based case-control study in Northeast England to investigate these and other exposures. All cases incident during 1993 to 1995 in a defined area of Northeast England were identified, and age-and sex-matched population controls were identified from primary care population registers. Cases and controls were sent postal selfcompletion questionnaires covering medical history and lifestyle. Information was received from 100 cases and 223 controls. The familial tendency of PBC was found to be less marked than has been claimed: Only weak associations were found with other autoimmune diseases. Among factors considered previously, no significant associations were found with surgical procedures, events in pregnancy, past infections, vaccinations, and medications. No significant associations were found for previously unconsidered lifestyle factors (drinking alcohol, previous pets, or stressful events), but there was an unexpected association with past smoking (ever smoked: 76% in cases vs. 57% in controls, odds ratio 2.4; smoked for 20 years or more: 64% vs. 35%, odds ratio 3.5). There were also unexpected significant associations with psoriasis (13% in cases vs. 3% in controls, odds ratio 4.6) and eczema (3% in cases vs. 11% in controls, odds ratio 0.13). These findings merit further investigation.

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Section: Discussionmentioning

confidence: 99%

An exploratory population-based case-control study of primary biliary cirrhosis

et al. 2000

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“…Twin and family studies strongly suggest a genetic predisposition to PBC. 56,57 Variations in immunoregulatory genes, such as human leukocyte antigen class II (HLA-II) alleles, proinflammatory cytokines (TNF-␣ and IL-1␤), CTLA-4, and vitamin D receptor, influence disease susceptibility. [58][59][60] Moreover, genetic polymorphisms may influence disease progression.…”

Section: Gene Polymorphisms Influencing Liver Fibrosis In Humansmentioning

confidence: 99%

Genetic polymorphisms and the progression of liver fibrosis: A critical appraisal

2003

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Liver fibrosis is a highly dynamic process in which multiple genes interact with environmental factors. Recent human epidemiologic studies have identified possible polymorphisms in a number of candidate genes that influence the progression of liver fibrosis. These genetic factors could explain the broad spectrum of responses to the same etiologic agent found in patients with chronic liver diseases. Polymorphisms in genes encoding immunoregulatory proteins, proinflammatory cytokines, and fibrogenic factors may influence disease progression in patients with alcohol-induced liver disease, primary biliary cirrhosis, or chronic hepatitis C. However, some of the studies have yielded contradictory results. For example, conflicting results have been obtained in studies assessing the role of mutations in the hemochromatosis gene on fibrosis progression in patients with chronic hepatitis C. Largescale, well-designed studies are required to clarify the actual role of this factor and other genetic variants in liver fibrosis. (HEPATOLOGY 2003;37:493-503.)

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“…Family members of patients with PBC have a higher risk of developing the disease, and the occurrence of multiple cases within the same family is referred to as 'familial PBC' 7 presenting variable frequency rates, possibly following a geoepidemiological pattern (Table 1). Studies from the UK indicate that such frequency ranges between 1 and 2.4%, 8,9 possibly increasing over the past decade, likely for the awareness of physicians and novel diagnostic tools.…”

Section: Familial Pbcmentioning

confidence: 99%

Genes and (auto)immunity in primary biliary cirrhosis

et al. 2005

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Primary biliary cirrhosis (PBC) is a chronic autoimmune cholestatic liver disease most commonly encountered in postmenopausal women; it is characterized by high-titer serum autoantibodies to mitochondrial antigens, elevated serum IgM, progressive destruction of intrahepatic bile ducts, and ultimately liver cirrhosis and failure. The cytopathic mechanisms leading to the selective destruction of intrahepatic cholangiocytes are still largely unknown. The current theory on the pathogenesis of PBC indicated that environmental factors might trigger autoimmunity in genetically susceptible individuals. In fact, genetic predisposition is critical to disease onset and progression, yet peculiar among autoimmune diseases, as indicated by the lack of a strong association with major histocompatibility complex haplotypes. Further, the recently reported concordance rate among monozygotic twins strenghtens the importance of genetic factors, while also indicating that additional factors, possibly infectious agents or xenobiotics, intervene to trigger the disease. In this review, the available data regarding the genetic factors associated with PBC susceptibility and progression, as well as the available evidence regarding the immunomediated pathogenesis of PBC, will be critically illustrated and discussed.

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Prevalence and pattern of familial disease in primary biliary cirrhosis.

Cited by 96 publications

References 22 publications

An exploratory population-based case-control study of primary biliary cirrhosis

An exploratory population-based case-control study of primary biliary cirrhosis

Genetic polymorphisms and the progression of liver fibrosis: A critical appraisal

Genes and (auto)immunity in primary biliary cirrhosis

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