Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children.

Human beta-defensin (HBD)-1 is constitutively expressed in the airway, and hBD-1 plays crucial roles in innate immunity against respiratory pathogens. Asthma was associated with DEFB1 polymorphisms in Caucasians. This study investigates whether three single nucleotide polymorphisms (SNPs) in 5'-untranslated region of DEFB1 are associated with asthma phenotypes in Chinese children. Subjects aged 5-18 years were recruited from general pediatric clinics. Plasma IgE concentrations were measured by immunoassays. DEFB1 SNPs were characterized by restriction fragment length polymorphism. In all, 305 asthmatics and 156 controls were recruited. For asthma diagnosis, atopy and plasma total IgE, higher percentages of subjects with these outcomes had the minor alleles -20A and -52G (P = 0.041-0.0002). For log-transformed total IgE, the covariate was positive and significant for G-20A under recessive model (P = 0.001) and for G-52A under both recessive and codominant models (P = 0.008 and 0.035). The recessive model covariate was also positive and significant (P = 0.020) for C-44G on peripheral blood eosinophil count. The GCA haplotype of DEFB1 was significantly associated with asthma (odds ratio (95% confidence interval): 1.64 (1.05-2.57); P = 0.029). These results suggest that DEFB1 is a candidate gene for asthma and atopy in children.