dc.contributor.author |
Balázs, Anita |
|
dc.contributor.author |
Ruffert C, |
|
dc.contributor.author |
Hegyi E, |
|
dc.contributor.author |
Hritz, István |
|
dc.contributor.author |
Czakó, László |
|
dc.contributor.author |
Takács, Tamás |
|
dc.contributor.author |
Szepes, Zoltán |
|
dc.contributor.author |
Németh, Balázs |
|
dc.contributor.author |
Izbéki, Ferenc |
|
dc.contributor.author |
Kelemen, Dezső |
|
dc.contributor.author |
Illés, Anita |
|
dc.contributor.author |
Vincze, Áron |
|
dc.contributor.author |
Farkas, Gyula Jr. |
|
dc.contributor.author |
Veres, Gábor |
|
dc.contributor.author |
Szentkereszty, Zsolt |
|
dc.contributor.author |
Rakonczay, Zoltán |
|
dc.contributor.author |
Maléth, József |
|
dc.contributor.author |
Hegyi, Péter |
|
dc.date.accessioned |
2016-05-27T09:10:42Z |
|
dc.date.available |
2016-05-27T09:10:42Z |
|
dc.date.issued |
2015 |
|
dc.identifier |
84943664002 |
|
dc.identifier.citation |
pagination=508-513;
journalVolume=15;
journalIssueNumber=5;
journalTitle=PANCREATOLOGY; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/2504 |
|
dc.identifier.uri |
doi:10.1016/j.pan.2015.08.008 |
|
dc.description.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. |
|
dc.relation.ispartof |
urn:issn:1424-3903 |
|
dc.title |
Genetic analysis of the bicarbonate secreting anion exchanger SLC26A6 in chronic pancreatitis. |
|
dc.type |
Journal Article |
|
dc.date.updated |
2015-11-23T09:06:08Z |
|
dc.language.rfc3066 |
en |
|
dc.identifier.mtmt |
2954565 |
|
dc.identifier.pubmed |
26372434 |
|
dc.contributor.department |
SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika |
|
dc.contributor.institution |
Semmelweis Egyetem |
|