PhD Scientific Days 2020

Molecular Sciences V. Lectures

Role of Common CASR Variants in Chronic Pancreatitis

Előadó neve

Takáts, Amanda

Előadó munkahelye

Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary

Előadó telefonszáma

+36302016646

Előadó e-mail címe

amanda.takats@gmail.com

Az előadás címe

Role of Common CASR Variants in Chronic Pancreatitis

Szerző(k) neve és munkahelye

Amanda Takáts1, Gergő Berke1, Andrea Szentesi1,2, Gyula Farkas Jr3, Ferenc Izbéki4, Bálint Erőss1, László Czakó2, Áron Vincze5, Péter Hegyi1,2,6,7, Miklós Sahin-Tóth8, Eszter Hegyi1

1 Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary
2 First Department of Medicine, University of Szeged, Szeged, Hungary
3 Department of Surgery, University of Szeged, Szeged, Hungary
4 Szent György University Teaching Hospital of Fejér County, Székesfehérvár, Hungary
5 Division of Gastroenterology, First Department of Medicine, University of Pécs, Pécs, Hungary
6 Division of Translational Medicine, First Department of Medicine, Medical School, University of Pécs, Hungary
7 Hungarian Academy of Sciences-University of Szeged, Momentum Gastroenterology Multidisciplinary Research Group
8 Center for Exocrine Disorders, Department of Molecular and Cell Biology, Boston University Henry M. Goldman School of Dental Medicine, Boston

Szekció

Molecular Sciences V. Lectures

Language of the presentation

English

Section, first choice

Molecular Sciences

Section, second choice

Theoretical and Translational Medicine

Összefoglaló szövege

Introduction: The calcium sensing receptor (CASR) plays an essential role in maintaining mineral ion homeostasis and is also expressed in human pancreatic acinar and ductal cells. Over the past years, the possible involvement of common CASR variants in chronic pancreatitis (CP) has emerged, however, their role in the pathogenesis of CP remains controversial due to the lack of large case-control studies. Aim: To analyze the clinically frequent CASR variants in an ethnically homogenous group of Hungarian CP patients and healthy controls. Methods: In our discovery cohort 257 CP patients (cases) and 183 controls with no pancreatic disease from the Hungarian National Pancreas Registry were enrolled. As the most common CASR variants are located in exon 7, we PCR amplified and sequenced this exon with its flanking intronic regions. To further investigate the role of the p.A986S polymorphism, we will expand our cohort and use the TaqMan™ SNP Genotyping Method. Results: In our discovery cohort we identified three common exon 7 variants: c.2956G>T (p.A986S), c.2968A>G (p.R990G) and c.3031C>G (p.Q1011E). No significant differences were found in allele frequencies of these variants in cases compared to the control group: p.A986S (19.26% vs 18.58%, OR=1.05, p=0.8), p.R990G (7.8% vs 6.3%, OR=1.26, p=0.4) and p.Q1011E (3.7% vs 4.1%, OR=0.9, p=0.8). However, genotype distribution analysis revealed, that the p.A986S variant in homozygous state was overrepresented in patients relative to controls (3.5% vs 1.1%, OR=3.3, p=0.13). Although this difference was not statistically significant, there is a clear trend which warrants extension of the studies to a larger cohort in the future. Conclusion: The homozygous c.2956G>T (p.A986S) variant is overrepresented in the Hungarian cohort of chronic pancreatitis patients relative to the control group. Our results strengthen the previous findings in a French cohort (Masson E, 2015) and support the possible pathogenic role of the homozygous p.A986S variant in chronic pancreatitis.

Additional Information

Supervisor: Eszter Hegyi
E-mail adress: eszter.hegyi@aok.pte.hu

Bemutatás módja

Szóbeli

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

4784

Start

17:30

End

17:45

Authors (legacy)

Amanda Takáts1, Gergő Berke1, Andrea Szentesi1,2, Gyula Farkas Jr3, Ferenc Izbéki4, Bálint Erőss1, László Czakó2, Áron Vincze5, Péter Hegyi1,2,6,7, Miklós Sahin-Tóth8, Eszter Hegyi1

1 Institute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary
2 First Department of Medicine, University of Szeged, Szeged, Hungary
3 Department of Surgery, University of Szeged, Szeged, Hungary
4 Szent György University Teaching Hospital of Fejér County, Székesfehérvár, Hungary
5 Division of Gastroenterology, First Department of Medicine, University of Pécs, Pécs, Hungary
6 Division of Translational Medicine, First Department of Medicine, Medical School, University of Pécs, Hungary
7 Hungarian Academy of Sciences-University of Szeged, Momentum Gastroenterology Multidisciplinary Research Group
8 Center for Exocrine Disorders, Department of Molecular and Cell Biology, Boston University Henry M. Goldman School of Dental Medicine, Boston