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Verfasst von:Eiseler, Katharina [VerfasserIn]   i
 Dropmann, Lea Maria [VerfasserIn]   i
 Bugert, Peter [VerfasserIn]   i
 Ewers, Maren [VerfasserIn]   i
 Witt, Heiko [VerfasserIn]   i
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

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