Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

<h4>Background</h4>Mutations in genes encoding cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) are associated with chronic pancreatitis. However, in many patients with a familial chronic pancreatitis pattern suggesting a genetic...

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Autores principales:	Wendy L van der Woerd, Désirée Y van Haaften-Visser, Stan F J van de Graaf, Claude Férec, Emmanuelle Masson, Janneke M Stapelbroek, Peter Bugert, Heiko Witt, Roderick H J Houwen
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/b90d8d07498a443c93be36298c0f66c2
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spelling	oai:doaj.org-article:b90d8d07498a443c93be36298c0f66c22021-11-18T08:45:42ZMutational analysis of ATP8B1 in patients with chronic pancreatitis.1932-620310.1371/journal.pone.0080553https://doaj.org/article/b90d8d07498a443c93be36298c0f66c22013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24260417/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Mutations in genes encoding cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) are associated with chronic pancreatitis. However, in many patients with a familial chronic pancreatitis pattern suggesting a genetic cause, no mutations in either of these genes can be found, indicating that other, still unknown, associated genes exist. In this respect ATP8B1 is an interesting candidate due to its strong expression in the pancreas, its supposed general function in membrane organization and the higher incidence of pancreatitis in patients with ATP8B1 deficiency.<h4>Methods</h4>We analyzed all 27 ATP8B1 coding exons and adjacent non-coding sequences of 507 chronic pancreatitis patients by direct sequencing. Exons that harbored possible relevant variations were subsequently sequenced in 1,027 healthy controls.<h4>Results</h4>In the exonic regions, 5 novel non-synonymous alterations were detected as well as 14 previously described alterations of which some were associated with ATP8B1 deficiency. However, allele frequencies for any of these variations did not significantly differ between patients and controls. Furthermore, several non-synonymous variants were exclusively detected in control subjects and multiple variants in the non-coding sequence were identified with similar frequencies in both groups.<h4>Conclusions</h4>We did not find an association between heterozygous ATP8B1 variants and chronic pancreatitis in our cohort of patients with hereditary and idiopathic chronic pancreatitis.Wendy L van der WoerdDésirée Y van Haaften-VisserStan F J van de GraafClaude FérecEmmanuelle MassonJanneke M StapelbroekPeter BugertHeiko WittRoderick H J HouwenPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 11, p e80553 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Wendy L van der Woerd Désirée Y van Haaften-Visser Stan F J van de Graaf Claude Férec Emmanuelle Masson Janneke M Stapelbroek Peter Bugert Heiko Witt Roderick H J Houwen Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
description	<h4>Background</h4>Mutations in genes encoding cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) are associated with chronic pancreatitis. However, in many patients with a familial chronic pancreatitis pattern suggesting a genetic cause, no mutations in either of these genes can be found, indicating that other, still unknown, associated genes exist. In this respect ATP8B1 is an interesting candidate due to its strong expression in the pancreas, its supposed general function in membrane organization and the higher incidence of pancreatitis in patients with ATP8B1 deficiency.<h4>Methods</h4>We analyzed all 27 ATP8B1 coding exons and adjacent non-coding sequences of 507 chronic pancreatitis patients by direct sequencing. Exons that harbored possible relevant variations were subsequently sequenced in 1,027 healthy controls.<h4>Results</h4>In the exonic regions, 5 novel non-synonymous alterations were detected as well as 14 previously described alterations of which some were associated with ATP8B1 deficiency. However, allele frequencies for any of these variations did not significantly differ between patients and controls. Furthermore, several non-synonymous variants were exclusively detected in control subjects and multiple variants in the non-coding sequence were identified with similar frequencies in both groups.<h4>Conclusions</h4>We did not find an association between heterozygous ATP8B1 variants and chronic pancreatitis in our cohort of patients with hereditary and idiopathic chronic pancreatitis.
format	article
author	Wendy L van der Woerd Désirée Y van Haaften-Visser Stan F J van de Graaf Claude Férec Emmanuelle Masson Janneke M Stapelbroek Peter Bugert Heiko Witt Roderick H J Houwen
author_facet	Wendy L van der Woerd Désirée Y van Haaften-Visser Stan F J van de Graaf Claude Férec Emmanuelle Masson Janneke M Stapelbroek Peter Bugert Heiko Witt Roderick H J Houwen
author_sort	Wendy L van der Woerd
title	Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
title_short	Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
title_full	Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
title_fullStr	Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
title_full_unstemmed	Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
title_sort	mutational analysis of atp8b1 in patients with chronic pancreatitis.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/b90d8d07498a443c93be36298c0f66c2
work_keys_str_mv	AT wendylvanderwoerd mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT desireeyvanhaaftenvisser mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT stanfjvandegraaf mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT claudeferec mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT emmanuellemasson mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT jannekemstapelbroek mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT peterbugert mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT heikowitt mutationalanalysisofatp8b1inpatientswithchronicpancreatitis AT roderickhjhouwen mutationalanalysisofatp8b1inpatientswithchronicpancreatitis
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Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

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