Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis
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...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
December 2022
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| In: |
Pancreatology
Year: 2022, Volume: 22, Issue: 8, Pages: 1079-1083 |
| ISSN: | 1424-3911 |
| DOI: | 10.1016/j.pan.2022.09.240 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.pan.2022.09.240 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S142439032200744X 
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| Author Notes: | Katharina Eiseler, Lea Maria Dropmann, Peter Bugert, Maren Ewers, Heiko Witt |
| Summary: | 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. |
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| Item Description: | Online verfügbar: 21. September 2022, Artikelversion: 1. Dezember 2022 Gesehen am 02.09.2024 |
| Physical Description: | Online Resource |
| ISSN: | 1424-3911 |
| DOI: | 10.1016/j.pan.2022.09.240 |