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dc.contributor.supervisor Eck, Peter (Human Nutritional Sciences) en_US
dc.contributor.author Serrano León, Alejandra
dc.date.accessioned 2013-09-11T15:29:27Z
dc.date.available 2013-09-11T15:29:27Z
dc.date.issued 2013-09-11
dc.identifier.uri http://hdl.handle.net/1993/22167
dc.description.abstract Polymorphisms in organic cation transporters SLC22A4, SLC22A23 and IBD5 locus have been associated with pathogenesis of inflammatory bowel disease (IBD). We sought to investigate the association of polymorphisms in these genes to IBD risk in a Canadian population, subclone and express human SLC22A23 gene to determine the localization in the cell. DNA samples from 160 patients with Crohn´s disease (CD), 149 patients with ulcerative colitis (UC) and 142 healthy controls were genotyped by PCR-RFLP analysis or TaqMan system. Gateway® recombination technology was used to transform and express SLC22A23 gene in HEK 293 cell line. Polymorphisms in the IBD5 locus rs17622208-AA genotype and rs11739135-CC genotype increase the risk of CD. Moreover, carriers of SLC22A23 polymorphisms rs4959235-TT genotype and rs9503518-GG genotype increase dramatically the risk of UC. We confirm that SLC22A23 polymorphisms are important in the pathogenesis of IBD and they can ultimately be used as biomarkers of the disease risk. en_US
dc.subject inflammatory bowel disease en_US
dc.subject organic cation transporters en_US
dc.subject SLC22A23 en_US
dc.subject polymorphisms en_US
dc.title Functional variations of organic cation transporters associated to inflammatory bowel disease en_US
dc.degree.discipline Human Nutritional Sciences en_US
dc.contributor.examiningcommittee Aukema, Harold (Human Nutritional Sciences) Bezabeh, Tedros (Human Nutritional Sciences) en_US
dc.degree.level Master of Science (M.Sc.) en_US
dc.description.note October 2013 en_US


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