Genome wide association study for associated gens of autoimmune pancreatitis

自身免疫性胰腺炎（Autoimmune pancreatitis，AAP）是一种特殊类型的胰腺炎，以血清IgG 4浓度升高和大量含IgG 4的浆细胞浸润为特征，并伴有多种其他器官受累。 我们进行了全基因组关联研究（GWAS），以阐明与AIP发病机制相关的基因。我们确认了在AIP和对照之间显示显著差异的SNPs，这些SNPs揭示了13个候选基因。其中，我们通过精细定位发现CLNK和PAX5基因与AIP有显著关联。CLNK和PAK5基因的功能可能与免疫应答有关。此外，我们还发现了10个与泪腺和唾液腺病变并发症相关的候选基因，代表了AIP的活动状态。其中KLF基因与该并发症有显著相关性。

Autoimmune pancreatitis is a specific type of pancreatitis characterized by high serum IgG4 concentration and abundant IgG4 bearing plasma cell infiltration, and complicated with variety of other organ involvements. We performed genome-wide association study (GWAS) to elucidate the genes that associated with the pathogenesis of AIP. We confirmed SNPs that showed significant differences between AIP and control, and these SNPs revealed 13 candidate genes. Among these, we identified that CLNK and PAX5 genes showed significant association with AIP by fine mapping. Functions of CLNK and PAK5 genes may associated with immunological responses. In addition, we revealed 10 candidate genes that were associated with complication of lachrymal and salivary gland lesions, that represent active state of AIP. Among these, KLF gene showed significant association with this complication.