Functional variations of organic cation transporters associated to inflammatory bowel disease
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...
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ndltd-LACETR-oai-collectionscanada.gc.ca-MWU.1993-221672014-07-04T04:25:38Z Functional variations of organic cation transporters associated to inflammatory bowel disease Serrano León, Alejandra Eck, Peter (Human Nutritional Sciences) Aukema, Harold (Human Nutritional Sciences) Bezabeh, Tedros (Human Nutritional Sciences) inflammatory bowel disease organic cation transporters SLC22A23 polymorphisms 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. 2013-09-11T15:29:27Z 2013-09-11T15:29:27Z 2013-09-11 http://hdl.handle.net/1993/22167 |
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inflammatory bowel disease organic cation transporters SLC22A23 polymorphisms |
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inflammatory bowel disease organic cation transporters SLC22A23 polymorphisms Serrano León, Alejandra Functional variations of organic cation transporters associated to inflammatory bowel disease |
description |
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. |
author2 |
Eck, Peter (Human Nutritional Sciences) |
author_facet |
Eck, Peter (Human Nutritional Sciences) Serrano León, Alejandra |
author |
Serrano León, Alejandra |
author_sort |
Serrano León, Alejandra |
title |
Functional variations of organic cation transporters associated to inflammatory bowel disease |
title_short |
Functional variations of organic cation transporters associated to inflammatory bowel disease |
title_full |
Functional variations of organic cation transporters associated to inflammatory bowel disease |
title_fullStr |
Functional variations of organic cation transporters associated to inflammatory bowel disease |
title_full_unstemmed |
Functional variations of organic cation transporters associated to inflammatory bowel disease |
title_sort |
functional variations of organic cation transporters associated to inflammatory bowel disease |
publishDate |
2013 |
url |
http://hdl.handle.net/1993/22167 |
work_keys_str_mv |
AT serranoleonalejandra functionalvariationsoforganiccationtransportersassociatedtoinflammatoryboweldisease |
_version_ |
1716705833367109632 |