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

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),...

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Elmentve itt :
Bibliográfiai részletek
Szerzők: Balázs Anita
Ruffert Claudia
Hegyi Eszter
Hritz István
Czakó László
Takács Tamás
Szepes Zoltán
Németh Balázs Csaba
Gervain Judit
Izbéki Ferenc
Halász Adrienn
Kelemen Dezső
Szmola Richárd
Novák János
Crai Stefan
Illés Anita
Vincze Áron
Molnár Zsolt
Varga Márta
Bod Barnabás
Farkas Gyula Jr
Sümegi János
Szepes Attila
Dubravcsik Zsolt
Lasztity Natália
Párniczky Andrea
Hamvas József
Andorka Csilla
Veres Gábor
Szentkereszty Zsolt
Rakonczay Zoltán, ifj
Maléth József
Sahin-Tóth Miklós
Rosendahl Jonas
Hegyi Péter
Dokumentumtípus: Cikk
Megjelent: 2015
Sorozat:PANCREATOLOGY 15 No. 5
doi:10.1016/j.pan.2015.08.008

mtmt:2954565
Online Access:http://publicatio.bibl.u-szeged.hu/11478
Leíró adatok
Tartalmi kivonat: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.
Terjedelem/Fizikai jellemzők:508-513
ISSN:1424-3903