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Genetic variants of IL-11 associated with risk of Hirschsprung disease

Title
Genetic variants of IL-11 associated with risk of Hirschsprung disease
Author
고인송
Keywords
enteric nervous system; haplotype; Hirschsprung; IL-11; single nucleotide polymorphism
Issue Date
2015-10
Publisher
WILEY-BLACKWELL
Citation
NEUROGASTROENTEROLOGY AND MOTILITY, v. 27, NO 10, Page. 1371-1377
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.
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.http://hdl.handle.net/20.500.11754/28442
ISSN
1350-1925; 1365-2982
DOI
10.1111/nmo.12629
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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