Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility
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RESEARCH ARTICLE
Open Access
Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility Miaomiao Zhang1†, Guo Chen2,3†, Yu Wang1, Shou-Quan Wu1, Andrew J. Sandford4 and Jian-Qing He1*
Abstract Background: 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. 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. Methods: A 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. Results: After 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). Conclusions: This 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. Keywords: CDHR3, EMSY, Asthma, Polymorphism, Susceptibility
Background Asthma is a chronic airway inflammatory disease that affects populations throughout the world. A World Health Organization report [1] predicted that the number of asthma patients would increase to 400 million by 2025 and 250,000 patients may die from this disease each * Correspondence: [email protected]; [email protected] † Miao-miao Zhang and Guo Chen contributed equally to this work. 1 Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, No. 37, Guo Xue Alley, Chengdu, Sichuan 610041, People’s Republic of China Full list of author information is available at the end of the article
year. A recent survey indicated that the prevalence of asthma among individuals aged > 14 years was 1.24% and there are approximately 30 million asthmatic patients in China [2]. The pathogenesis of asthma is still incompletely understood but it is known that genetic factors play a significant part in asthma susceptibility. The heritability of asthma was estimated to be 60 to 70% in an Australian twin study [3]. Genetic f
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