Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population

Allergol Immunopathol (Madr). Sep-Oct 2017;45(5):432-438. doi: 10.1016/j.aller.2016.10.021. Epub 2017 Mar 2.


Objective: To investigate whether the genetic variants of TGFB1, TLE4, MUC22 and IKZF3 are associated with the development of asthma in Chinese children.

Methods: 572 adolescent asthma patients and 590 age-matched healthy controls were included in this study. A total of four SNPs were genotyped, including rs2241715 of TGFB1, rs2378383 of TLE4, rs2523924 of MUC22, and rs907092 of IKZF3. Allele frequencies of the patients and the control group were compared by the Chi-square test. The Student t test was used to analyse the relationship between genotypes and clinical feature of the patients.

Results: Patients were found to have significantly different frequencies of allele A of rs2241715, allele G of rs2378383 and allele A of rs2523924 as compared with the controls (40.4% vs. 45.9%, p=0.01 for rs2241715; 17.2% vs. 13.4%, p=0.01 for rs2378383; 15.3% vs. 11.9%, p=0.02 for rs2523924). For patients with severe asthma, those with genotype AA/AG of rs2241715 had remarkably higher FEV1% as compared with those with genotype GG (59.1±4.3% vs. 55.4±3.7%, p<0.001). Moreover, those with genotype GG/GA of rs2378383 had remarkably lower FEV1% as compared with those with genotype AA (54.6±2.9% vs. 58.6±4.1%, p<0.001).

Conclusions: Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population. Our results associating TGFB1 and TLE4 with clinical features of asthma suggest potential application of these parameters in the management of asthma children.

Keywords: Asthma; Children; Chinese population; Polymorphism; Susceptibility.

MeSH terms

  • Adolescent
  • Asthma / genetics*
  • Case-Control Studies
  • Child
  • China
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Mucins / genetics*
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Repressor Proteins / genetics*
  • Transforming Growth Factor beta1 / genetics*


  • MUC22 protein, human
  • Mucins
  • Nuclear Proteins
  • Repressor Proteins
  • TLE4 protein, human
  • Transforming Growth Factor beta1