Primary biliary cirrhosis (PBC) has been considered a multifactorial autoimmune disease presumably arising from a combination of environmental and genetic factors, with genetic inheritance mostly suggested by familial occurrence and high concordance rate among monozygotic twins. In the last decade, genome-wide association studies, new data on sex chromosome defects and instabilities, and initial evidence on the role of epigenetic abnormalities have strengthened the crucial importance of genetic and epigenetic factors in determining the susceptibility of PBC. High-throughput genetic studies in particular have revolutionized the search for genetic influences on PBC and have the potential to be translated into clinical and therapeutic applications, although more biological knowledge on candidate genes is now needed. In this review, these recent discoveries will be critically summarized with particular focus on the possible steps that may transfer genetic and epigenetic knowledge to direct health benefits in patients with PBC. Copyright © 2014 by Thieme Medical Publishers, Inc.

Bianchi, I., Carbone, M., Lleo, A., Invernizzi, P. (2014). Genetics and epigenetics of primary biliary cirrhosis. SEMINARS IN LIVER DISEASE, 34(3), 255-264 [10.1055/s-0034-1383725].

Genetics and epigenetics of primary biliary cirrhosis

CARBONE, MARCO
Secondo
;
INVERNIZZI, PIETRO
Ultimo
2014

Abstract

Primary biliary cirrhosis (PBC) has been considered a multifactorial autoimmune disease presumably arising from a combination of environmental and genetic factors, with genetic inheritance mostly suggested by familial occurrence and high concordance rate among monozygotic twins. In the last decade, genome-wide association studies, new data on sex chromosome defects and instabilities, and initial evidence on the role of epigenetic abnormalities have strengthened the crucial importance of genetic and epigenetic factors in determining the susceptibility of PBC. High-throughput genetic studies in particular have revolutionized the search for genetic influences on PBC and have the potential to be translated into clinical and therapeutic applications, although more biological knowledge on candidate genes is now needed. In this review, these recent discoveries will be critically summarized with particular focus on the possible steps that may transfer genetic and epigenetic knowledge to direct health benefits in patients with PBC. Copyright © 2014 by Thieme Medical Publishers, Inc.
Articolo in rivista - Articolo scientifico
genome-wide association study; immune-related pathways; novel drugs; primary biliary cirrhosis; sex chromosomes; Female; Genetic Markers; Genetic Predisposition to Disease; Genome-Wide Association Study; Heredity; High-Throughput Nucleotide Sequencing; Humans; Liver Cirrhosis, Biliary; Male; Pedigree; Phenotype; Risk Factors; Sex Factors; Bile Ducts, Intrahepatic; Epigenesis, Genetic; Hepatology; Medicine (all)
English
255
264
10
Bianchi, I., Carbone, M., Lleo, A., Invernizzi, P. (2014). Genetics and epigenetics of primary biliary cirrhosis. SEMINARS IN LIVER DISEASE, 34(3), 255-264 [10.1055/s-0034-1383725].
Bianchi, I; Carbone, M; Lleo, A; Invernizzi, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/141280
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