Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR

Pediatr Pulmonol. 2011 Jul;46(7):701-8. doi: 10.1002/ppul.21424. Epub 2011 Feb 18.


The gasdermin A (GSDMA) and gasdermin B (GSDMB) genes are located at 17q21.2. The GSDM family genes have been studied in the gastrointestinal tract but recent reports suggest that GSDMB is associated with childhood asthma in several populations. We investigated the association of the GSDMA and GSDMB variants with asthma in Korean children, and to assess the effect of these variants on intermediate phenotypes of asthma. Asthmatic (n = 778) and normal (n = 522) children were enrolled and genotypes were determined using PCR-RFLP. Asthma susceptibility was associated with GG of the GSDMA (rs7212938) and TT of GSDMB (rs7216389). And a combination of risk alleles of two polymorphisms was associated with asthma susceptibility and a frequency of those was higher in asthmatic children with increased levels of total IgE (aOR 1.77, 95% CI 1.15-2.72) and BHR (aOR 1.54, 95% CI 0.99-2.40) compared to normal. Also, we observed a significant association between haplotype of two polymorphisms and asthma susceptibility. The region including the GSDMA and GSDMB polymorphisms may be associated with asthma susceptibility and intermediate phenotypes of asthma, such as elevated IgE and BHR, in Korean children with asthma. These results strongly support an important role for the GSDMA and GSDMB in the development of childhood asthma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asthma / genetics*
  • Case-Control Studies
  • Child
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Hypersensitivity, Immediate / genetics*
  • Immunoglobulin E / blood
  • Male
  • Neoplasm Proteins / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*
  • Republic of Korea
  • Respiratory Hypersensitivity / genetics*


  • GSDMA protein, human
  • GSDMB protein, human
  • Neoplasm Proteins
  • Immunoglobulin E