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Genetic Variation and Gene Expression Levels of Tight Junction Genes Indicates Relationships Between PTEN as well as MAGI1 and Microscopic Colitis
Karolinska Institute, Sweden; Regional Jönköping County, Sweden.
Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Regional Jonköping County, Sweden.
2018 (English)In: Digestive Diseases and Sciences, ISSN 0163-2116, E-ISSN 1573-2568, Vol. 63, no 1, p. 105-112Article in journal (Refereed) Published
Abstract [en]

Microscopic colitis (MC) has been associated with increased paracellular permeability. Therefore, we aimed to investigate potential associations between MC and several genes encoding tight junction (TJ) proteins reported to interact with each other. The association between MC and single nucleotide polymorphisms (SNP; n = 63) within TJ genes (F11R, MAGI1, MAGI2, MAGI3, PARD3, PTEN, and TJP1) were investigated in a case-control study (n (MC patients) = 104 and n (controls) = 423). The genes that exhibited an association with MC were further investigated for gene expression related to genotype, MC phenotype, and gender using colonic biopsies from MC patients (n = 25) and controls (n = 58). Based on the number of investigated genes and after correction for multiple testing, an association was detected between a SNP marker in PTEN (rs1234224) and both MC overall (OR = 1.70, 95% CI 1.23-2.34, p = 0.001) and collagenous colitis (CC; OR = 1.79, 95% CI 1.22-2.62, p = 0.003). Further, SNP markers in MAGI1 (rs17417230) and F11R (rs790055) were associated with MC overall (OR = 1.58, 95% CI 1.14-2.19, p = 0.006) and with CC (OR = 2.58, 95% CI 1.27-5.25, p = 0.007), respectively. However, none of the associated SNPs contributed markedly to the expression of the respective genes. Nonetheless, decreased MAGI1 (p = 3.47 x 10(-4)) and PTEN (p = 0.004) expression was associated with lymphocytic colitis (LC) and CC, respectively, compared to controls. Decreased expression of PTEN and MAGI1 in the colonic mucosa might contribute to the pathogenesis of MC and its sub-phenotypes. Furthermore, our study indicates that genetic variants of TJ components are predisposing factors in the etiology of MC. Finally, F11R, MAGI1, and PTEN are new candidate genes that exhibit an association with MC.

Place, publisher, year, edition, pages
SPRINGER , 2018. Vol. 63, no 1, p. 105-112
Keywords [en]
Microscopic colitis; Genetic predisposition; Genotype; Gene expression; Single nucleotide polymorphism; Tight junctions
National Category
Gastroenterology and Hepatology
Identifiers
URN: urn:nbn:se:liu:diva-144565DOI: 10.1007/s10620-017-4857-7ISI: 000419772600014PubMedID: 29204743OAI: oai:DiVA.org:liu-144565DiVA, id: diva2:1178282
Note

Funding Agencies|FORSS; Medical Research Council of South-Eastern Sweden [236541-2012, 235131-2012]; Futurum-the Academy for Healthcare; Region Jonkoping County [FUTURUM-338631]; Bengt Ihre-Fonden [2012-SLS 254491]; Karolinska Institutets Forskningsfonder [2014fobi42063]

Available from: 2018-01-29 Created: 2018-01-29 Last updated: 2018-02-21

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