Ming-Chu Chang1, I-Shiow Jan2, Po-Chin Liang2, Yung-Ming Jeng3, Ching-Yao Yang4, Yu-Wen Tien4, Jau-Min Wong1, Yu-Ting Chang5. 1. Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan. 2. Department of Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan. 3. Department of Pathology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan. 4. Department of Surgery, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung Shan South Road, Taipei, Taiwan. 5. 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.
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.
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 AIPpatients. Clinical features, including imaging, histology, serology, steroid treatment response and extra-pancreatic involvement, were compared between AIPpatients with and without CFTR gene variants. RESULTS: A total of 28.1% (25/89) of the AIPpatients 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 AIPpatients with CFTR variants show slower and reduced steroid treatment responses, different treatments should be considered in AIPpatients with CFTR variants.
Authors: Sasha Mikhael; Sonal Dugar; Madison Morton; Lynn P Chorich; Kerlene Berwick Tam; Amy C Lossie; Hyung-Goo Kim; James Knight; Hugh S Taylor; Souhrid Mukherjee; John A Capra; John A Phillips; Michael Friez; Lawrence C Layman Journal: Hum Genet Date: 2021-01-19 Impact factor: 5.881
Authors: Sylvia Drazilova; Eduard Veseliny; Patricia Denisa Lenartova; Dagmar Drazilova; Jakub Gazda; Ivica Grgurevic; Martin Janicko; Peter Jarcuska Journal: Can J Gastroenterol Hepatol Date: 2021-12-21