Clinical-liver, pancreas, and biliary tractPrimary biliary cirrhosis in monozygotic and dizygotic twins: Genetics, epigenetics, and environment☆
Section snippets
Subjects
As part of a long-term effort, our laboratory has collaborated with tertiary referral centers as well as the PBCers, an Internet group of patients. This database includes information on the presence of twins within families that have at least one index case of PBC. At the time this study was initiated, we estimate that there were approximately 1400 families in the database; within this group, we requested information as to whether any sets of twins were present. The investigators involved
Diagnosis of PBC and determination of zygosity
Based on internationally accepted criteria,1, 9 we confirmed the diagnosis in 21 of 21 patients previously diagnosed with PBC by their referring physicians. In the remaining 11 of 11 individuals, we confirmed the absence of PBC, once again as noted by their referring physicians. No doubtful diagnosis of PBC (i.e., only one criterion fulfilled) was encountered. Results obtained by genetic analysis (combining HLA and STR independent typings) confirmed the monozygosity of the 8 twin pairs referred
Discussion
A large number of genetic and epidemiologic studies in PBC suggest a variable prevalence of disease in different geographic areas as well as a significant risk for development of disease in first-degree relatives of an affected subject.2, 3, 13 In addition, the relatives of affected diseased individuals often develop PBC within a short time of the first case, suggesting environmental influences.13 A large number of discrete genetic alleles have been studied in PBC, but there has not been
Acknowledgements
The authors thank Joseph Schauer (Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis, Davis, CA) for STRs typing and Drs. Peter Stastny and Robert Vorhaben (Histocompatibility Laboratory, Transplant Immunology Section, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX) for HLA typing.
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Supported by National Institutes of Health grant 39588.