Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.

<h4>Introduction</h4>Impairment of the mucosal barrier plays an important role in the pathophysiology of acute pancreatitis. The myosin IXB (MYO9B) gene and the two tight-junction adaptor genes, PARD3 and MAGI2, have been linked to gastrointestinal permeability. Common variants of these...

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Autores principales:	Rian M Nijmeijer, Hjalmar C van Santvoort, Alexandra Zhernakova, Steffen Teller, Jonas A Scheiber, Carolien G de Kovel, Marc G H Besselink, Jeroen T J Visser, Femke Lutgendorff, Thomas L Bollen, Marja A Boermeester, Ger T Rijkers, Frank U Weiss, Julia Mayerle, Markus M Lerch, Hein G Gooszen, Louis M A Akkermans, Cisca Wijmenga, Dutch Pancreatitis Study Group
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/0d88de831570400681000246b77aa6f0
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spelling	oai:doaj.org-article:0d88de831570400681000246b77aa6f02021-11-18T08:39:43ZAssociation analysis of genetic variants in the myosin IXB gene in acute pancreatitis.1932-620310.1371/journal.pone.0085870https://doaj.org/article/0d88de831570400681000246b77aa6f02013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24386489/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Introduction</h4>Impairment of the mucosal barrier plays an important role in the pathophysiology of acute pancreatitis. The myosin IXB (MYO9B) gene and the two tight-junction adaptor genes, PARD3 and MAGI2, have been linked to gastrointestinal permeability. Common variants of these genes are associated with celiac disease and inflammatory bowel disease, two other conditions in which intestinal permeability plays a role. We investigated genetic variation in MYO9B, PARD3 and MAGI2 for association with acute pancreatitis.<h4>Methods</h4>Five single nucleotide polymorphisms (SNPs) in MYO9B, two SNPs in PARD3, and three SNPs in MAGI2 were studied in a Dutch cohort of 387 patients with acute pancreatitis and over 800 controls, and in a German cohort of 235 patients and 250 controls.<h4>Results</h4>Association to MYO9B and PARD3 was observed in the Dutch cohort, but only one SNP in MYO9B and one in MAGI2 showed association in the German cohort (p < 0.05). Joint analysis of the combined cohorts showed that, after correcting for multiple testing, only two SNPs in MYO9B remained associated (rs7259292, p = 0.0031, odds ratio (OR) 1.94, 95% confidence interval (95% CI) 1.35-2.78; rs1545620, p = 0.0006, OR 1.33, 95% CI 1.16-1.53). SNP rs1545620 is a non-synonymous SNP previously suspected to impact on ulcerative colitis. None of the SNPs showed association to disease severity or etiology.<h4>Conclusion</h4>Variants in MYO9B may be involved in acute pancreatitis, but we found no evidence for involvement of PARD3 or MAGI2.Rian M NijmeijerHjalmar C van SantvoortAlexandra ZhernakovaSteffen TellerJonas A ScheiberCarolien G de KovelMarc G H BesselinkJeroen T J VisserFemke LutgendorffThomas L BollenMarja A BoermeesterGer T RijkersFrank U WeissJulia MayerleMarkus M LerchHein G GooszenLouis M A AkkermansCisca WijmengaDutch Pancreatitis Study GroupPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 12, p e85870 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Rian M Nijmeijer Hjalmar C van Santvoort Alexandra Zhernakova Steffen Teller Jonas A Scheiber Carolien G de Kovel Marc G H Besselink Jeroen T J Visser Femke Lutgendorff Thomas L Bollen Marja A Boermeester Ger T Rijkers Frank U Weiss Julia Mayerle Markus M Lerch Hein G Gooszen Louis M A Akkermans Cisca Wijmenga Dutch Pancreatitis Study Group Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.
description	<h4>Introduction</h4>Impairment of the mucosal barrier plays an important role in the pathophysiology of acute pancreatitis. The myosin IXB (MYO9B) gene and the two tight-junction adaptor genes, PARD3 and MAGI2, have been linked to gastrointestinal permeability. Common variants of these genes are associated with celiac disease and inflammatory bowel disease, two other conditions in which intestinal permeability plays a role. We investigated genetic variation in MYO9B, PARD3 and MAGI2 for association with acute pancreatitis.<h4>Methods</h4>Five single nucleotide polymorphisms (SNPs) in MYO9B, two SNPs in PARD3, and three SNPs in MAGI2 were studied in a Dutch cohort of 387 patients with acute pancreatitis and over 800 controls, and in a German cohort of 235 patients and 250 controls.<h4>Results</h4>Association to MYO9B and PARD3 was observed in the Dutch cohort, but only one SNP in MYO9B and one in MAGI2 showed association in the German cohort (p < 0.05). Joint analysis of the combined cohorts showed that, after correcting for multiple testing, only two SNPs in MYO9B remained associated (rs7259292, p = 0.0031, odds ratio (OR) 1.94, 95% confidence interval (95% CI) 1.35-2.78; rs1545620, p = 0.0006, OR 1.33, 95% CI 1.16-1.53). SNP rs1545620 is a non-synonymous SNP previously suspected to impact on ulcerative colitis. None of the SNPs showed association to disease severity or etiology.<h4>Conclusion</h4>Variants in MYO9B may be involved in acute pancreatitis, but we found no evidence for involvement of PARD3 or MAGI2.
format	article
author	Rian M Nijmeijer Hjalmar C van Santvoort Alexandra Zhernakova Steffen Teller Jonas A Scheiber Carolien G de Kovel Marc G H Besselink Jeroen T J Visser Femke Lutgendorff Thomas L Bollen Marja A Boermeester Ger T Rijkers Frank U Weiss Julia Mayerle Markus M Lerch Hein G Gooszen Louis M A Akkermans Cisca Wijmenga Dutch Pancreatitis Study Group
author_facet	Rian M Nijmeijer Hjalmar C van Santvoort Alexandra Zhernakova Steffen Teller Jonas A Scheiber Carolien G de Kovel Marc G H Besselink Jeroen T J Visser Femke Lutgendorff Thomas L Bollen Marja A Boermeester Ger T Rijkers Frank U Weiss Julia Mayerle Markus M Lerch Hein G Gooszen Louis M A Akkermans Cisca Wijmenga Dutch Pancreatitis Study Group
author_sort	Rian M Nijmeijer
title	Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.
title_short	Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.
title_full	Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.
title_fullStr	Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.
title_full_unstemmed	Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.
title_sort	association analysis of genetic variants in the myosin ixb gene in acute pancreatitis.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/0d88de831570400681000246b77aa6f0
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Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.

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