Genetics and Geoepidemiology of Primary Biliary Cirrhosis: Following the Footprints to Disease Etiology

Carlo Selmi; Pietro Invernizzi; Massimo Zuin; Mauro Podda; M. Eric Gershwin

doi:10.1055/s-2005-916319

Seminars in Liver Disease, Inhaltsverzeichnis

Semin Liver Dis 2005; 25(3): 265-280
DOI: 10.1055/s-2005-916319

Genetics and Geoepidemiology of Primary Biliary Cirrhosis: Following the Footprints to Disease Etiology

Carlo Selmi¹ ^, ³ , Pietro Invernizzi¹ , Massimo Zuin¹ , Mauro Podda¹ , M. Eric Gershwin² ^, ³

¹Division of Internal Medicine, San Paolo School of Medicine, University of Milan, Milan, Italy
²Chief, Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis, Davis, California
³Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis, Davis, California

Abstract

ABSTRACT

The etiopathogenesis of primary biliary cirrhosis (PBC), an autoimmune disease characterized by the progressive destruction of intrahepatic bile ducts, is still enigmatic. There is growing evidence that suggests that the disease results from a combination of genetic and environmental factors. PBC should be regarded as a peculiar, yet representative autoimmune disease. For example, the relative risk for siblings and the concordance rate in monozygotic twins in PBC are among the highest reported in autoimmune conditions. Association studies for specific genes have provided weak associations, which often are limited to specific geographical areas. Interestingly, PBC epidemiology also presents a geographical pattern; it is more common in the northern parts of Europe and United States. In this article, we critically review available evidence regarding genetics and geoepidemiology in PBC. We also submit possible interpretations of data, new developments and theories, and attempt to indicate directions for future research efforts.

KEYWORDS

Autoimmune cholangitis - antimitochondrial antibodies - multigene - geographical pattern

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Referenzen

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M. Eric GershwinM.D.

Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis School of Medicine

GBSF Suite 6510, Davis, CA 95616

eMail: megershwin@ucdavis.edu