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http://purl.uniprot.org/citations/26372434http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26372434http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.org/dc/terms/identifier"doi:10.1016/j.pan.2015.08.008"xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Sahin-Toth M."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Sumegi J."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Novak J."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Molnar Z."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Hegyi P."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Nemeth B.C."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Rosendahl J."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Szmola R."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Varga M."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Hegyi E."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Veres G."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Illes A."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Balazs A."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Halasz A."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Gervain J."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Vincze A."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Takacs T."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Izbeki F."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Hritz I."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Farkas G. Jr."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Rakonczay Z. Jr."xsd:string
http://purl.uniprot.org/citations/26372434http://purl.uniprot.org/core/author"Maleth J."xsd:string
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