Immunogenetics of IgG4-Related AIP

  • Masao OtaEmail author
  • Takeji Umemura
  • Shigeyuki Kawa
Part of the Current Topics in Microbiology and Immunology book series (CT MICROBIOLOGY, volume 401)


Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. AIP has the features of a complex disease that is caused by multifactorial genes. However, the genetic factors underlying AIP have not been elucidated conclusively. Association studies by the candidate-gene approach and genome-wide association studies (GWAS) have revealed several susceptibility genes for AIP, including HLA DRB1*04:05-DQB1*04:01, FCRL3, CTLA4, and KCNA3, albeit in small-scale analyses. Thus, GWAS of large sample sizes and multinational collaborative meta-analyses are needed to identify the precise genetic variants that are associated with AIP onset. Systems genetics approaches that integrate DNA sequencing, expression quantitative trait locus (eQTL) mapping, proteomics, and metabolomics will also be useful in clarifying the pathogenesis of AIP.


Human Leukocyte Antigen Human Leukocyte Antigen Class Autoimmune Pancreatitis Human Leukocyte Antigen Allele Expression Quantitative Trait Locus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Department of Legal MedicineShinshu University School of MedicineMatsumotoJapan
  2. 2.Department of Internal Medicine, Division of Gastroenterology and HepatologyShinshu University School of MedicineMatsumotoJapan
  3. 3.Center for Health, Safety, and Environmental ManagementShinshu UniversityMatsumotoJapan

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