Ota Masao, Umemura Takeji, Kawa Shigeyuki
Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Internal Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, Japan.
Curr Top Microbiol Immunol. 2017;401:35-44. doi: 10.1007/82_2016_37.
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 DRB104:05-DQB104:01, 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.
自身免疫性胰腺炎（AIP）是一种独特的慢性胰腺炎形式，其特征为血清IgG4浓度升高以及多种胰腺外并发症。AIP具有由多因素基因引起的复杂疾病的特征。然而，AIP潜在的遗传因素尚未得到最终阐明。通过候选基因方法和全基因组关联研究（GWAS）进行的关联研究已经揭示了一些AIP的易感基因，包括HLA DRB104:05-DQB104:01、FCRL3、CTLA4和KCNA3，尽管这些研究规模较小。因此，需要进行大样本量的GWAS和跨国合作的荟萃分析，以确定与AIP发病相关的精确基因变异。整合DNA测序、表达定量性状基因座（eQTL）定位、蛋白质组学和代谢组学的系统遗传学方法，也将有助于阐明AIP的发病机制。
