Genetic variants of IL-11 associated with risk of Hirschsprung disease
- Authors
- Kim, L.H.[Kim, L.H.]; Cheong, H.S.[Cheong, H.S.]; Shin, J.-G.[Shin, J.-G.]; Seo, J.-M.[Seo, Jeong Meen]; Kim, D.-Y.[Kim, D.-Y.]; Oh, J.-T.[Oh, J.-T.]; Kim, H.-Y.[Kim, H.-Y.]; Jung, K.[Jung, K.]; Koh, I.[Koh, I.]; Kim, J.-H.[Kim, J.-H.]; Shin, H.D.[Shin, H.D.]
- Issue Date
- 2015
- Keywords
- enteric nervous system; haplotype; Hirschsprung; IL-11; single nucleotide polymorphism
- Citation
- Neurogastroenterology and Motility, v.27, no.10, pp.1371 - 1377
- Journal Title
- Neurogastroenterology and Motility
- Volume
- 27
- Number
- 10
- Start Page
- 1371
- End Page
- 1377
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/48111
- DOI
- 10.1111/nmo.12629
- 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 × 10-7) showed statistically significant associations with HSCR, even after Bonferroni correction (p<inf>corr</inf> = 1.73 × 10-6 for the SNP). Moreover, the most common haplotype was strongly associated with HSCR (p<inf>corr</inf> = 2.20 × 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<inf>corr</inf> = 6.12 × 10-5 for rs6509940 in S-HSCR; but no significant SNP in L-HSCR and TCA). Conclusions & 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. Physical map, LD, and haplotypes of IL-11. © 2015 John Wiley & Sons Ltd.
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