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Genetic risk factors for autoimmune hepatitis: implications for phenotypic heterogeneity and biomarkers for drug response

Autoimmune hepatitis (AIH) is a rare chronic progressive liver disease with autoimmune features. It mainly affects middle-aged women. AIH is occasionally complicated with liver cirrhosis that worsens the prognosis. Genetic and environmental factors are involved in the pathogenesis of AIH. Genetic studies of other diseases have been revealing of pathogenesis and drug efficacy. In this review, we summarize the genetic risk factors for AIH, including human leukocyte antigen (HLA) and non-HLA genes. A genome-wide association study (GWAS) on European AIH revealed the strongest associations to be with single nucleotide variants (SNVs) in HLA. Predisposing alleles for AIH were DRB1*03:01 and DRB1*04:01 in Europeans; DRB1*04:04, DRB1*04:05, and DRB1*13:01 in Latin Americans; and DRB1*04:01 and DRB1*04:05 in Japanese. Other risk SNVs in non-HLA genes for AIH were found by a candidate gene approach, but several SNVs were confirmed in replication studies. Some genetic factors of AIH overlapped with those of other autoimmune diseases. Larger-scale GWASs of other ethnic groups are required. The results of genetic studies might provide an explanation for the phenotypic heterogeneity of AIH and biomarkers for drug responses.

Articles

  1. Authors: Francesca Antonaros, Rossella Zenatelli, Giulia Guerri, Matteo Bertelli, Chiara Locatelli, Beatrice Vione, Francesca Catapano, Alice Gori, Lorenza Vitale, Maria Chiara Pelleri, Giuseppe Ramacieri, Guido Cocchi, Pierluigi Strippoli, Maria Caracausi and Allison Piovesan

    Content type: Primary research

  1. Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

    Content type: Meeting Abstracts

HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.


Previous content

Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

COVID-19 and impact on peer review

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

Aims and scope

Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Call for Papers: Artificial Intelligence (AI) and Genomics

Guest Editors: Kirill A. Veselkov, Imperial College, London, UK; Takashi Gojobori, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

We solicit manuscripts for a topical collection on "AI and Genomics" in Human Genomics.  As you know, human genomics has become one of the most active areas of cutting-edge life sciences and grown to be one of the largest generators of data. In addition to the value of greatly enhanced experimental examination and validation, human genomics relies on emerging, powerful computational approaches, such as Big Data analyses and artificial intelligence (AI) including network science, machine learning, deep learning, text mining, knowledge-based database construction, and even quantum computing. The collection would also be a home for articles focusing on practical applications.

We welcome original articles as well as review papers. Please indicate in your cover letter that your article is intended for the topical collection on "AI and Genomics” and select the collection upon submission. Submissions can also retrospectively be assigned to the collection. Please notify the Journal Editorial Office accordingly.  

We look forward to receiving high-quality submissions of significance that can make further contributions to the field of human genomics.

Call for Papers: Genomics of COVID-19: Molecular Mechanisms Going from Susceptibility to Severity of the Disease

Guest Editors: Giuseppe Novelli, University of Rome Tor Vergata, Italy; Juergen Reichardt,  James Cook University, Australia
The current COVID-19 pandemic has highlighted the importance of science and medicine, specifically public health, in our modern societies. Countries have taken different approaches to the pandemic. Science and medicine will play an important role in our way forward in tackling COVID-19. Specifically, genetics and genomics will be central in discovering variations in virus strains and their impact on patients’ outcome, the hosts’ ability to fend off the virus and the severity of disease in patients. Furthermore, the question of long-term immunity to COVID-19 may have a genetic and genomic basis which should be investigated. Some of these human genetics and genomics investigations will undoubtedly be suitable for publication in Human Genomics. We expressly welcome submissions of manuscripts on such subjects. 

Call for Papers: Genetically Manipulated Animal Models for Human Disease

Guest Editors: Ying Chen, Yale University, USA; Won Yeong Kang, The Jackson Laboratory, USA;  Hassane Mchaourab, Vanderbilt University, USA

In recent decades, genetically manipulated animal models have been developed and used widely in the biomedical research field. Use of animal models thus serves as an important tool to elucidate mechanisms of human disease, as well as to develop new diagnostic and therapeutic strategies for the treatment of these diseases. In this topical collection, we intend to provide up-to-date information on recent genetic animal models, and new knowledge derived from these studies on the pathophysiology, diagnosis and therapeutic drugs of human disease. We invite investigators to contribute original research and review articles that describe: (i) newly developed animal models, (ii) intervention studies using animal models, and (iii) comparisons between existing models for certain diseases.


Call for Papers: Public Health Genomics

Guest Editors: George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA

Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.


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