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Logo of bmcgastBioMed Centralsearchsubmit a manuscriptregisterthis articleBMC Gastroenterology
BMC Gastroenterol. 2012; 12: 110.
Published online Aug 16, 2012. doi:  10.1186/1471-230X-12-110
PMCID: PMC3444887
Primary Biliary Cirrhosis in a genetically homogeneous population: Disease associations and familial occurrence rates
Aikaterini Mantaka,corresponding author1 Mairi Koulentaki,1 Gregory Chlouverakis,2 Jean Marie Enele-Melono,1 Aikaterini Darivianaki,3 Maria Tzardi,4 and Elias A Kouroumalis1
1Department of Gastroenterology and Hepatology, University Hospital of Heraklion, P.O. BOX 1352, Heraklion, 71100, Crete, Greece
2Department of Social Medicine, Faculty of Medicine, University of Crete, Heraklion, 71100, Greece
3Department of Clinical Immunology, University Hospital of Heraklion, PO BOX 1352, Heraklion, 71100, Crete, Greece
4Department of Pathology, University Hospital of Heraklion, PO BOX 1352, Heraklion, 71100, Crete, Greece
corresponding authorCorresponding author.
Aikaterini Mantaka: katmant/at/; Mairi Koulentaki: mkoulentaki/at/; Gregory Chlouverakis: gchlouve/at/; Jean Marie Enele-Melono: enelemelono/at/; Aikaterini Darivianaki: katmant/at/; Maria Tzardi: tzardi_maria/at/; Elias A Kouroumalis: kouroum/at/
Received December 8, 2011; Accepted July 16, 2012.
Primary 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.
111 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.
Dyslipidaemia 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%.
Dyslipidaemia 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.
Keywords: Familial pbc, risk factors, cholecystectomy, dyslipidaemia, cancer, educational level
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