Abstract
BackgroundAs a main line of defense of the respiratory tract, the airway epithelium plays an important role in the pathogenesis of asthma. CDHR3 and EMSY were reported to be expressed in the human airway epithelium. Although previous genome-wide association studies found that the two genes were associated with asthma susceptibility, similar observations have not been made in the Chinese Han population.MethodsA total of 300 asthma patients and 418 healthy controls unrelated Chinese Han individuals were enrolled. Tag-single nucleotide polymorphisms (Tag-SNPs) were genotyped and the associations between SNPs and asthma risk were analyzed by binary logistic regression analysis.ResultsAfter adjusting for confounding factors, the A allele of rs3847076 in CDHR3 was associated with increased susceptibility to asthma (OR = 1.407, 95% CI: 1.030–1.923). For the EMSY gene, the T alleles of both rs2508746 and rs12278256 were related with decreased susceptibility to asthma (additive model: OR = 0.718, 95% CI: 0.536–0.961; OR = 0.558, 95% CI: 0.332–0.937, respectively). In addition, the GG genotype of rs1892953 showed an association with increased asthma risk under the recessive model (OR = 1.667, 95% CI: 1.104–2.518) and the GATCTGAGT haplotype in EMSY was associated with reduced asthma risk (P = 0.037).ConclusionsThis study identified novel associations of rs3847076 in CDHR3, as well as rs1892953, rs2508746 and rs12278256 in EMSY with adult asthma susceptibility in the Chinese Han population. Our observations suggest that CDHR3 and EMSY may play important roles in the pathogenesis of asthma in Chinese individuals. Further study with larger sample size is needed.
Highlights
As a main line of defense of the respiratory tract, the airway epithelium plays an important role in the pathogenesis of asthma
A genomewide association study (GWAS) in 2017 demonstrated that Chromosome 11 open reading frame 30 (C11orf30), called EMSY or BRCA2-interacting transcriptional repressor, another gene expressed in airway epithelium [7], was a risk locus for food allergy in a Canadian population [8] and this gene has been shown to be involved in the epigenetic regulation of gene expression [9]
No significant differences in sex, body mass index (BMI) and smoking history were observed between case and control groups (Table 1)
Summary
As a main line of defense of the respiratory tract, the airway epithelium plays an important role in the pathogenesis of asthma. CDHR3 and EMSY were reported to be expressed in the human airway epithelium. Asthma is a chronic airway inflammatory disease that affects populations throughout the world. As the first barrier between the human body and the environment, the airway epithelium has an important role in regulating the inflammation, immunity and tissue repair in the pathogenesis of asthma [5]. One genomewide association study (GWAS) of a Danish population identified Cadherin related family member 3 (CDHR3), which is highly expressed in human airway epithelium, as a susceptibility locus for childhood asthma with severe exacerbations [6]. This study aimed to investigate the association of common variants in CDHR3 and EMSY with adult asthma in the Chinese population
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