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Pancreatology. 2015 Sep-Oct;15(5):508-513. doi: 10.1016/j.pan.2015.08.008. Epub 2015 Sep 1.

Genetic analysis of the bicarbonate secreting anion exchanger SLC26A6 in chronic pancreatitis.

Author information

1
First Department of Medicine, University of Szeged, Szeged, Hungary.
2
Department of Internal Medicine, Neurology and Dermatology, Division of Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany.
3
First Department of Medicine, University of Szeged, Szeged, Hungary; 2nd Department of Pediatrics, Comenius University Medical School, University Children's Hospital, Bratislava, Slovakia.
4
Department of Molecular and Cell Biology, Boston University Henry M. Goldman School of Dental Medicine, Boston, MA 02118, USA.
5
Szent György University Teaching Hospital of County Fejér, Székesfehérvár, Hungary.
6
Department of Surgery, University of Pécs, Hungary.
7
Department of Interventional Gastroenterology, National Institute of Oncology, Budapest, Hungary.
8
Pándy Kálmán County Hopsital, Gyula, Hungary.
9
First Department of Medicine, University of Pécs, Hungary.
10
Department of Anestesiology and Intensive Care, University of Szeged, Szeged, Hungary.
11
Dr. Réthy Pál Hospital, Békéscsaba, Hungary.
12
Dr. Bugyi István Hospital, Szentes, Hungary.
13
Department of Surgery, University of Szeged, Hungary.
14
B-A-Z County Hopspital and University Teaching Hospital, Miskolc, Hungary.
15
Department of Gastroenterology, Bács-Kiskun County Hospital, Kecskemét, Hungary.
16
Heim Pál Children's Hospital, Budapest, Hungary.
17
Bajcsy-Zsilinszky Hospital, Budapest, Hungary.
18
1st Department of Pediatrics, Semmelweis University, Faculty of Medicine, Budapest, Hungary.
19
Institute of Surgery, University of Debrecen, Clinical Center, Debrecen Hungary.
20
First Department of Medicine, University of Szeged, Szeged, Hungary; MTA-SZTE Translational Gastroenterology Research Group, Szeged, Hungary. Electronic address: hegyi.peter@med.u-szeged.hu.

Abstract

BACKGROUND:

Pancreatic ductal HCO3(-) secretion is critically dependent on the cystic fibrosis transmembrane conductance regulator chloride channel (CFTR) and the solute-linked carrier 26 member 6 anion transporter (SLC26A6). Deterioration of HCO3(-) secretion is observed in chronic pancreatitis (CP), and CFTR mutations increase CP risk. Therefore, SLC26A6 is a reasonable candidate for a CP susceptibility gene, which has not been investigated in CP patients so far.

METHODS:

As a first screening cohort, 106 subjects with CP and 99 control subjects with no pancreatic disease were recruited from the Hungarian National Pancreas Registry. In 60 non-alcoholic CP cases the entire SLC26A6 coding region was sequenced. In the Hungarian cohort variants c.616G > A (p.V206M) and c.1191C > A (p.P397=) were further genotyped by restriction fragment length polymorphism analysis. In a German replication cohort all exons were sequenced in 40 non-alcoholic CP cases and variant c.616G > A (p.V206M) was further analyzed by sequencing in 321 CP cases and 171 controls.

RESULTS:

Sequencing of the entire coding region revealed four common variants: intronic variants c.23 + 78_110del, c.183-4C > A, c.1134 + 32C > A, and missense variant c.616G > A (p.V206M) which were found in linkage disequilibrium indicating a conserved haplotype. The distribution of the haplotype did not show a significant difference between patients and controls in the two cohorts. A synonymous variant c.1191C > A (p.P397=) and two intronic variants c.1248 + 9_20del and c.-10C > T were detected in single cases.

CONCLUSION:

Our data show that SLC26A6 variants do not alter the risk for the development of CP.

KEYWORDS:

Bicarbonate secretion; Candidate gene analysis; Chronic pancreatitis; Cl(−)-HCO(3)(−) exchanger; Genetic risk factor; Pancreatic duct

PMID:
26372434
DOI:
10.1016/j.pan.2015.08.008
[Indexed for MEDLINE]

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