ArticleBMC gastroenterology2012
Primary biliary cirrhosis in a genetically homogeneous population: disease associations and familial occurrence rates.
Article in BMC gastroenterology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Familial and genetic overlap between Sjögren's disease and other autoimmune diseases.Frontiers in immunology · 2026Pooled it
- Autoimmune Gastritis Complicated by Primary Biliary Cholangitis: A Report of Two Cases and Literature Review.Cureus · 2025Article
- Hashimoto's thyroiditis and coexisting disorders in correlation with HLA status-an overview.Wiener medizinische Wochenschrift (1946) · 2023Review
- Autoimmune liver diseases in systemic rheumatic diseases.World journal of gastroenterology · 2022Review
- Environmental risk factors are associated with autoimmune hepatitis.Liver international : official journal of the International Association for the Study of the Liver · 2021Article
- Non-Alcoholic Fatty Liver Disease: Metabolic, Genetic, Epigenetic and Environmental Risk Factors.International journal of environmental research and public health · 2021Review
- Environmental risk factors and comorbidities of primary biliary cholangitis in Korea: a case-control study.The Korean journal of internal medicine · 2021Article
- Smoking and Liver Disease.Gastroenterology & hepatology · 2020Article
- Pathogen infections and primary biliary cholangitis.Clinical and experimental immunology · 2019Review
- Environmental basis of primary biliary cholangitis.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- The immunogenetics of primary biliary cirrhosis: A comprehensive review.Journal of autoimmunity · 2015Review
- Primary biliary cirrhosis: From bench to bedside.World journal of gastrointestinal pharmacology and therapeutics · 2015Review
- Primary biliary cirrhosis: Pathophysiology, clinical presentation and therapy.World journal of hepatology · 2015Review
- Environmental factors in primary biliary cirrhosis.Seminars in liver disease · 2014Review
- Exposure to ambient air particulate matter and non-alcoholic fatty liver disease.World journal of gastroenterology · 2013Review
- Primary biliary cholangitis: a summary of pathogenesis and therapies.Annals of gastroenterologyReview
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary biliary cirrhosis (PBC) is a disease with genetic and environmental pathogenetic background. Chemicals, infectious agents, hormone therapy, reproductive history and surgical interventions have been implicated in the induction of PBC. Familial PBC has been documented in first degree relatives (FDR). Most cohort studies are genetically heterogeneous. Our study aimed to determine eventual lifestyle or disease associations and familial occurrence rates in a genetically homogeneous and geographically defined population of PBC patients.
methods111 consenting PBC patients, were compared with 115 FDR and 149 controls matched for age, sex, Cretan origin and residence. All participants completed a questionnaire regarding demographics, lifestyle, medical, surgical and reproductive history. Significant variables on the univariate analysis were analyzed by multivariate analysis using a forward step-wise logistic regression model.
resultsDyslipidaemia was found in 69.4% of patients, 60% of FDR and 40.9% of controls (p < 0.0001 and p = 0.003 respectively), autoimmune diseases in 36.9% of patients, 30.4% of FDR and 13.4% of controls (p < 0.0001 and p = 0.011 respectively). Hashimoto's disease (p = 0.003), Raynaud syndrome (p = 0.023) and Sjögren syndrome (p = 0.044) were significantly associated with PBC. On multivariate analysis statistically significant associations were found with primary educational level (AOR 2.304, 95% CI 1.024-5.181), cholecystectomy (AOR 2.927, 95% CI 1.347-6.362) and the presence of at least another autoimmune disease (AOR 3.318, 95% CI 1.177-6.22). Cancer history was more frequent in patients than in controls (p = 0.033). Familial PBC was found to be 9.9%.
conclusionsDyslipidaemia and autoimmune diseases were significantly increased not only in patients as expected but also in their FDR. An increased prevalence of malignancies was found in patients. Primary educational level, cholecystectomy and the presence of at least another autoimmune disease were found as putative risk factors for PBC. No association was found with smoking, urinary tract infection or reproductive history. The reported high familial occurrence of PBC could imply screening with AMA of FDR with at least another autoimmune disease.
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