November 12, 2014
Notes: Ni, Qingqiang
Biomed Rep. 2014 Jan;2(1):63-68. Epub 2013 Oct 3.
Author Address: Department of General Surgery, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning 116011, P.R. China.
Department of Pharmacy, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning 116011, P.R. China.
Reference Type: Journal Article
Record Number: 4734Author: Nijmeijer, R. M., van Santvoort, H. C., Zhernakova, A., Teller, S., Scheiber, J. A., de Kovel, C. G., Besselink, M. G., Visser, J. T., Lutgendorff, F., Bollen, T. L., Boermeester, M. A., Rijkers, G. T., Weiss, F. U., Mayerle, J., Lerch, M. M., Gooszen, H. G., Akkermans, L. M., Wijmenga, C. and Dutch Pancreatitis Study, Group
Title: Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis
Journal: PLoS One
Short Title: Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis
Alternate Journal: PloS one
ISSN: 1932-6203 (Electronic)
Accession Number: 24386489
Abstract: INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSION: Variants in MYO9B may be involved in acute pancreatitis, but we found no evidence for involvement of PARD3 or MAGI2.