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Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis

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Book cover Genetics of Rare Autoimmune Diseases

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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Abstract

Autoimmune liver diseases (AILDs), comprising primary biliary cirrhosis (PBC; also referred to as primary biliary cholangitis), primary sclerosing cholangitis (PSC), and autoimmune hepatitis (AIH), are complex conditions in which both genetic and environmental factors may affect the hepatobiliary system. Until recently, risk HLA haplotypes were the only genetic factor identified in these diseases, which were insufficient to explain most of the disease heritability. Nevertheless, thanks to the development of large-scale AILDs patient cohorts and the implementation of high-throughput methods such as genome-wide association studies (GWAS), a large number of genetic associations have emerged. In this chapter, we will provide an overview of the recent insights into genetic background of AILDs.

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Authors and Affiliations

  1. Instituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSIC, Parque Tecnológico Ciencias de la Salud, Granada, Spain

    David González-Serna, Martin Kerick & Javier Martín

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  1. David González-Serna
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  2. Martin Kerick
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  3. Javier Martín
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Correspondence to David González-Serna .

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  1. Institute of Parasitology and Biomedicine, Lopez-Neyra, CSIC, Granada, Spain

    Javier Martín

  2. Department of Genetics, University of Granada, Armilla, Granada, Spain

    Francisco David Carmona

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González-Serna, D., Kerick, M., Martín, J. (2019). Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis. In: Martín, J., Carmona, F. (eds) Genetics of Rare Autoimmune Diseases. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-03934-9_9

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