Immunogenetics of IgG4-Related AIP.
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.
Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan. otamasao@shinshu-u.ac.jp.
Masao
M
Ota
Department of Internal Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, Japan.
Takeji
T
Umemura
Center for Health, Safety, and Environmental Management, Shinshu University, Matsumoto, Japan.
Shigeyuki
S
Kawa
D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007125:Immunogenetics; D007074:Immunoglobulin G / Q000276:immunology*; D050500:Pancreatitis, Chronic / Q000235:genetics* / Q000276:immunology
D007074:Immunoglobulin G