| Online-Ressource |
Verfasst von: | Eiseler, Katharina [VerfasserIn]  |
| Dropmann, Lea Maria [VerfasserIn]  |
| Bugert, Peter [VerfasserIn]  |
| Ewers, Maren [VerfasserIn]  |
| 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 |
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. |
DOI: | doi:10.1016/j.pan.2022.09.240 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1016/j.pan.2022.09.240 |
| Volltext: https://www.sciencedirect.com/science/article/pii/S142439032200744X |
| DOI: https://doi.org/10.1016/j.pan.2022.09.240 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | AQP12A |
| AQP12B |
| Chronic pancreatitis |
| Genetics |
| Water channel |
K10plus-PPN: | 1900829967 |
Verknüpfungen: | → Zeitschrift |
Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis / Eiseler, Katharina [VerfasserIn]; December 2022 (Online-Ressource)