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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 255-264 |
| Number of pages | 10 |
| Journal | Seminars in Liver Disease |
| Volume | 34 |
| Issue number | 3 |
| DOIs | |
| State | Published - 2014 |
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Keywords
- genome-wide association study
- immune-related pathways
- novel drugs
- primary biliary cirrhosis
- sex chromosomes
ASJC Scopus subject areas
- Hepatology
Cite this
Genetics and epigenetics of primary biliary cirrhosis. / Bianchi, Ilaria; Carbone, Marco; Lleo, Ana; Invernizzi, Pietro.
In: Seminars in Liver Disease, Vol. 34, No. 3, 2014, p. 255-264.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetics and epigenetics of primary biliary cirrhosis
AU - Bianchi, Ilaria
AU - Carbone, Marco
AU - Lleo, Ana
AU - Invernizzi, Pietro
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - genome-wide association study
KW - immune-related pathways
KW - novel drugs
KW - primary biliary cirrhosis
KW - sex chromosomes
UR - http://www.scopus.com/inward/record.url?scp=84905027623&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84905027623&partnerID=8YFLogxK
U2 - 10.1055/s-0034-1383725
DO - 10.1055/s-0034-1383725
M3 - Article
C2 - 25057949
AN - SCOPUS:84905027623
VL - 34
SP - 255
EP - 264
JO - Seminars in Liver Disease
JF - Seminars in Liver Disease
SN - 0272-8087
IS - 3
ER -