Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 고인송 | - |
dc.date.accessioned | 2017-08-10T04:53:40Z | - |
dc.date.available | 2017-08-10T04:53:40Z | - |
dc.date.issued | 2015-10 | - |
dc.identifier.citation | NEUROGASTROENTEROLOGY AND MOTILITY, v. 27, NO 10, Page. 1371-1377 | en_US |
dc.identifier.issn | 1350-1925 | - |
dc.identifier.issn | 1365-2982 | - |
dc.identifier.uri | http://onlinelibrary.wiley.com/doi/10.1111/nmo.12629/abstract?systemMessage=Wiley+Online+Library+will+be+unavailable+on+Saturday+12th+August+at+3%3A00+EDT+%2F+8%3A00+BST+%2F+12%3A30+IST+%2F+15%3A00+SGT+for+4+hours+for+essential+maintenance.+Apologies+for+the+inconvenience. | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/28442 | - |
dc.description.abstract | Background Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence of enteric ganglia during enteric nervous system (ENS) development. Our recent genome-wide association study has identified a variant (rs6509940) of interleukin-11 (IL-11) as a potential susceptible locus for HSCR. As interleukins play important roles in the ENS, we further studied associations with HSCR of nine common single nucleotide polymorphisms (SNPs) on IL-11. Methods Biopsy specimens or surgical materials from all patients that were tested for histological examination based on the absence of the enteric ganglia were collected. A total of nine SNPs on IL-11 were genotyped in 187 HSCR patients and 283 unaffected controls using TaqMan genotyping assay. Key Results Combined analysis revealed that several SNPs (minimum p = 1.57 x 10(-7)) showed statistically significant associations with HSCR, even after Bonferroni correction (p(corr) = 1.73 x 10(-6) for the SNP). Moreover, the most common haplotype was strongly associated with HSCR (p(corr) = 2.20 x 10(-6)). In further analysis among three HSCR subtypes (short segment, S-HSCR; long segment, L-HSCR; total colonic aganglionosis, TCA) based on the extent of aganglionic segment, the result showed a different association pattern depending on the subtypes (minimum p(corr) = 6.12 x 10(-5) for rs6509940 in S-HSCR; but no significant SNP in L-HSCR and TCA). Conclusions (sic) Inferences Although further replication in a larger cohort and functional evaluations are needed, our findings suggest that genetic variations of IL-11 may be associated with the risk of HSCR and/or the mechanisms related to ENS development. | en_US |
dc.description.sponsorship | This work was supported by grants from the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2010-0007857 and 2009-0093822) and the Ministry of Education (NRF-2013R1A1A2008335). | en_US |
dc.language.iso | en | en_US |
dc.publisher | WILEY-BLACKWELL | en_US |
dc.subject | enteric nervous system | en_US |
dc.subject | haplotype | en_US |
dc.subject | Hirschsprung | en_US |
dc.subject | IL-11 | en_US |
dc.subject | single nucleotide polymorphism | en_US |
dc.title | Genetic variants of IL-11 associated with risk of Hirschsprung disease | en_US |
dc.type | Article | en_US |
dc.relation.no | 10 | - |
dc.relation.volume | 27 | - |
dc.identifier.doi | 10.1111/nmo.12629 | - |
dc.relation.page | 1371-1377 | - |
dc.relation.journal | NEUROGASTROENTEROLOGY AND MOTILITY | - |
dc.contributor.googleauthor | Kim, L. H. | - |
dc.contributor.googleauthor | Cheong, H. S. | - |
dc.contributor.googleauthor | Shin, J. -G. | - |
dc.contributor.googleauthor | Seo, J. -M. | - |
dc.contributor.googleauthor | Kim, D. -Y. | - |
dc.contributor.googleauthor | Oh, J. -T. | - |
dc.contributor.googleauthor | Kim, H. -Y. | - |
dc.contributor.googleauthor | Jung, K. | - |
dc.contributor.googleauthor | Koh, I. | - |
dc.contributor.googleauthor | Kim, J. -H. | - |
dc.relation.code | 2015000151 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | insong | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.