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

BMC Med Genomics. 2021 Jan 19;14(1):21. doi: 10.1186/s12920-020-00867-x.

Abstract

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.

Keywords: Hirschsprung's disease; Hirschsprung's disease-associated enterocolitis; IL-11; Polymorphisms.

MeSH terms

  • Asian People / genetics
  • Case-Control Studies
  • Child
  • Child, Preschool
  • China
  • East Asian People
  • Female
  • Genetic Predisposition to Disease*
  • Hirschsprung Disease* / genetics
  • Humans
  • Infant
  • Interleukin-11* / genetics
  • Male
  • Polymorphism, Single Nucleotide*

Substances

  • Interleukin-11
  • IL11 protein, human