Increased Act1/IL-17R expression in Hirschsprung’s disease

Tomuschat, Christian; O’Donnell, Anne Marie; Coyle, David; Puri, Prem

doi:10.1007/s00383-016-3980-4

Cited by 7 publications

(1 citation statement)

References 26 publications

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“…For instance, IL-11 plays an important role in the survival, maturation, and myelin formation of oligodendrocytes. A study by Tomuschat et al reported that the pro-inflammatory cytokines were observed in both the aganglionic and ganglionic and aganglionic regions of the bowels of patients with HSCR [8,9]. A population-based genome-wide association study (GWAS) on the Korean population was performed by Kim et al, showing that a number of SNPs on IL-11 such as rs1126760, rs4252546, and rs8104023 have statistically significant associations with HSCR based on 187 cases and 283 controls [10,11].…”

Section: Introductionmentioning

confidence: 99%

Correlation analysis of IL-11 polymorphisms and Hirschsprung disease subtype susceptibility in Southern Chinese Children

et al. 2021

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Background Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC). However, the pathogenesis for HSCR is complicated and remains unclear. Recent studies have shown that pro-inflammatory cytokines such as interleukin-11 (IL-11) are involved in the enteric nervous system's progress. It was found that IL-11 SNPs (rs8104023 and rs4252546) are associated with HSCR in the Korean population waiting for replication in an independent cohort. This study evaluated the relationship between IL-11 and the susceptibility of patients to HSCR by performing subphenotype interaction examination, HAEC pre-/post-surgical patient-only association analysis, and independence testing. Methods In this study, a cohort consisting of children from Southern China, comprising 1470 cases and 1473 controls, was chosen to examine the relationship between two polymorphisms (rs8104023 and rs4252546 in IL-11) and susceptibility to HSCR by replication research, subphenotype association analysis, and independence testing. Results The results showed that IL-11 gene polymorphisms (rs8104023 and rs4252546) are not associated with the risk of HSCR in the Chinese population. The results of both short-segment and long-segment (S-HSCR and L-HSCR) surgery (3.34 ≤ OR ≤ 4.05, 0.02 ≤ P ≤ 0.04) showed that single nucleotide polymorphisms (SNP) rs8104023 is associated with susceptibility to HAEC. Conclusions This study explored the relationship between genetic polymorphisms and susceptibility to HAEC in HSCR subtypes for the first time. These findings should be replicated in a larger and multicentre study.

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