Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis

• Verfasst von: Eiseler, Katharina [VerfasserIn]
• Verfasst von: Dropmann, Lea Maria [VerfasserIn]
• Verfasst von: Bugert, Peter [VerfasserIn]
• Verfasst von: Ewers, Maren [VerfasserIn]
• Verfasst von: Witt, Heiko [VerfasserIn]
• Titel: Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis
• Verf.angabe: Katharina Eiseler, Lea Maria Dropmann, Peter Bugert, Maren Ewers, Heiko Witt
• E-Jahr: 2022
• Jahr: December 2022
• Umfang: 5 S.
• Fussnoten: Online verfügbar: 21. September 2022, Artikelversion: 1. Dezember 2022 ; Gesehen am 02.09.2024
• Titel Quelle: Enthalten in: Pancreatology
• Ort Quelle: Amsterdam : Elsevier, 2001
• Jahr Quelle: 2022
• Band/Heft Quelle: 22(2022), 8 vom: Dez., Seite 1079-1083
• ISSN Quelle: 1424-3911
• DOI: doi:10.1016/j.pan.2022.09.240
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: AQP12A
• Sach-SW: AQP12B
• Sach-SW: Chronic pancreatitis
• Sach-SW: Genetics
• Sach-SW: Water channel
• K10plus-PPN: 1900829967

Abstract

Background - Alterations in genes specifically expressed in the pancreas have been associated with chronic pancreatitis (CP). A significant percentage of patients with non-alcoholic CP, however, do not have mutations in known risk genes, suggesting the existence of further susceptibility genes. Four aquaporins are expressed in the exocrine pancreas: AQP1, AQP5, AQP8 and AQP12, the latter being found exclusively in this organ. Therefore, we investigated the two AQP12 genes, AQP12A and AQP12B, in CP patients. - Methods - We analyzed all exons and adjacent intronic regions of AQP12A and AQP12B in 292 German patients with non-alcoholic CP and 143 control subjects by direct DNA sequencing. - Results - In total, we discovered 41 non-synonymous changes, three of which were nonsense variants. Genotype and allele frequencies of these variants did not differ significantly between patients and controls (all p-values >0.05). Remarkably, we found a common nonsense variant in AQP12B, p.S152Tfs∗24, with an allele frequency of 15.7% in controls, including 2.8% homozygous subjects. This finding suggests that AQP12B is physiologically dispensable for normal pancreatic function. - Conclusions - Our results suggest that genetic alterations in AQP12A and AQP12B do not predispose to the development of non-alcoholic CP.