The genetic architecture of primary biliary cholangitis

Alessio Gerussi; Marco Carbone; Cristophe Corpechot; Christoph Schramm; Rosanna Asselta; Pietro Invernizzi

doi:10.1016/j.ejmg.2021.104292

The genetic architecture of primary biliary cholangitis

Standard

The genetic architecture of primary biliary cholangitis. / Gerussi, Alessio; Carbone, Marco; Corpechot, Cristophe; Schramm, Christoph; Asselta, Rosanna; Invernizzi, Pietro.

In: EUR J MED GENET, Vol. 64, No. 9, 09.2021, p. 104292.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

Gerussi, A, Carbone, M, Corpechot, C, Schramm, C, Asselta, R & Invernizzi, P 2021, 'The genetic architecture of primary biliary cholangitis', EUR J MED GENET, vol. 64, no. 9, pp. 104292. https://doi.org/10.1016/j.ejmg.2021.104292

APA

Gerussi, A., Carbone, M., Corpechot, C., Schramm, C., Asselta, R., & Invernizzi, P. (2021). The genetic architecture of primary biliary cholangitis. EUR J MED GENET, 64(9), 104292. https://doi.org/10.1016/j.ejmg.2021.104292

Vancouver

Gerussi A, Carbone M, Corpechot C, Schramm C, Asselta R, Invernizzi P. The genetic architecture of primary biliary cholangitis. EUR J MED GENET. 2021 Sep;64(9):104292. https://doi.org/10.1016/j.ejmg.2021.104292

Bibtex

@article{313d1529a7e64bcaa7e89ed0b5e3d6a6,

title = "The genetic architecture of primary biliary cholangitis",

abstract = "Primary biliary cholangitis (PBC) is a rare autoimmune disease of the liver affecting the small bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and environmental factors have been called in action to explain its etiopathogenesis. Similarly to other complex traits, PBC has benefited from the introduction of genome-wide association studies (GWAS), which identified many variants predisposing or protecting toward the development of the disease. While a progressive endeavour toward the characterization of candidate loci and downstream pathways is currently ongoing, there is still a relatively large portion of heritability of PBC to be revealed. In addition, genetic variation behind progression of the disease and therapeutic response are mostly to be investigated yet. This review outlines the state-of-the-art regarding the genetic architecture of PBC and provides some hints for future investigations, focusing on the study of gene-gene interactions, the application of whole-genome sequencing techniques, and the investigation of X chromosome that can be helpful to cover the missing heritability gap in PBC.",

author = "Alessio Gerussi and Marco Carbone and Cristophe Corpechot and Christoph Schramm and Rosanna Asselta and Pietro Invernizzi",

year = "2021",

month = sep,

doi = "10.1016/j.ejmg.2021.104292",

language = "English",

volume = "64",

pages = "104292",

journal = "EUR J MED GENET",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "9",

}

RIS

TY - JOUR

T1 - The genetic architecture of primary biliary cholangitis

AU - Gerussi, Alessio

AU - Carbone, Marco

AU - Corpechot, Cristophe

AU - Schramm, Christoph

AU - Asselta, Rosanna

AU - Invernizzi, Pietro

PY - 2021/9

Y1 - 2021/9

N2 - Primary biliary cholangitis (PBC) is a rare autoimmune disease of the liver affecting the small bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and environmental factors have been called in action to explain its etiopathogenesis. Similarly to other complex traits, PBC has benefited from the introduction of genome-wide association studies (GWAS), which identified many variants predisposing or protecting toward the development of the disease. While a progressive endeavour toward the characterization of candidate loci and downstream pathways is currently ongoing, there is still a relatively large portion of heritability of PBC to be revealed. In addition, genetic variation behind progression of the disease and therapeutic response are mostly to be investigated yet. This review outlines the state-of-the-art regarding the genetic architecture of PBC and provides some hints for future investigations, focusing on the study of gene-gene interactions, the application of whole-genome sequencing techniques, and the investigation of X chromosome that can be helpful to cover the missing heritability gap in PBC.

AB - Primary biliary cholangitis (PBC) is a rare autoimmune disease of the liver affecting the small bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and environmental factors have been called in action to explain its etiopathogenesis. Similarly to other complex traits, PBC has benefited from the introduction of genome-wide association studies (GWAS), which identified many variants predisposing or protecting toward the development of the disease. While a progressive endeavour toward the characterization of candidate loci and downstream pathways is currently ongoing, there is still a relatively large portion of heritability of PBC to be revealed. In addition, genetic variation behind progression of the disease and therapeutic response are mostly to be investigated yet. This review outlines the state-of-the-art regarding the genetic architecture of PBC and provides some hints for future investigations, focusing on the study of gene-gene interactions, the application of whole-genome sequencing techniques, and the investigation of X chromosome that can be helpful to cover the missing heritability gap in PBC.

U2 - 10.1016/j.ejmg.2021.104292

DO - 10.1016/j.ejmg.2021.104292

M3 - SCORING: Review article

C2 - 34303876

VL - 64

SP - 104292

JO - EUR J MED GENET

JF - EUR J MED GENET

SN - 1769-7212

IS - 9

ER -