title: Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment.
abstract: BACKGROUND
  Autoimmune pancreatitis (AIP) is a distinct type of chronic pancreatitis. To date, the association of CFTR gene variants with AIP has not been studied.
  
  
  METHODS
  The entire coding and intronic regions of the CFTR gene were examined using next-generation sequencing in 89 AIP patients. Clinical features, including imaging, histology, serology, steroid treatment response and extra-pancreatic involvement, were compared between AIP patients with and without CFTR gene variants.
  
  
  RESULTS
  A total of 28.1% (25/89) of the AIP patients carried 26 CFTR variants, including nine with I556V, seven with 5T, four with S42F, two with I125T, and one each with R31C, R553X, S895N, and G1069R. The presence of CFTR variants and age was independent predictors of the response to steroid treatment, as shown by multivariate analysis.
  
  
  CONCLUSIONS
  CFTR variants are associated with AIP. Because AIP patients with CFTR variants show slower and reduced steroid treatment responses, different treatments should be considered in AIP patients with CFTR variants.
authors: Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: Ming-Chu
authors: MC
authors: Chang
authors: Department of Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: I-Shiow
authors: IS
authors: Jan
authors: Department of Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: Po-Chin
authors: PC
authors: Liang
authors: Department of Pathology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: Yung-Ming
authors: YM
authors: Jeng
authors: Department of Surgery, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: Ching-Yao
authors: CY
authors: Yang
authors: Department of Surgery, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: Yu-Wen
authors: YW
authors: Tien
authors: Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan.
authors: Jau-Min
authors: JM
authors: Wong
authors: Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan. Electronic address: yutingchang@ntu.edu.tw.
authors: Yu-Ting
authors: YT
authors: Chang
mesh_terms: D000328:Adult; D000368:Aged; D001327:Autoimmune Diseases / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004361:Drug Tolerance / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D060888:Real-Time Polymerase Chain Reaction; D012189:Retrospective Studies; D013997:Time Factors
chemical_list: D005938:Glucocorticoids; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA
keywords: Autoimmune pancreatitis (AIP); Cystic fibrosis transmembrane conductance regulator (CFTR); Next-generation sequencing (NGS) response to steroid treatment