ABSTRACT. Single nucleotide polymorphism (SNP)-based genome-wide association studies have revealed that polymorphisms of the ORM1-like 3 (ORMDL3) gene are associated with childhood asthma. We investigated genetic associations of SNPs in and around the ORMDL3 gene with childhood asthma in a Chinese population. Genomic DNA was extracted from peripheral venous blood drawn from 152 subjects with childhood asthma and from 190 control subjects. SNP genotyping was performed with the MassARRAY system (Sequenom) by means of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Among the six SNPs, only the genotype frequencies of rs7216389 were significantly different between asthmatic children and controls. Asthmatic children had a significantly higher frequency of T alleles [odds ratio (OR) = 1.653, 95% confidence interval (95%CI) = 1.170-2.333] in rs7216389, than controls. The TT genotype of rs7216389 was found to be a significant risk factor for childhood asthma by logistic regression analysis (OR = 1.704, 95%CI = 1.105-©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 11 (4): 4646-4653 (2012) Polymorphisms of ORMDL3 and childhood asthma 4647 2.628). There was no significant association between the TT genotype of rs7216389 and clinical features of childhood asthma. We conclude that the ORMDL3 gene influences childhood asthma and that the TT genotype of the rs7216389 polymorphism is associated with childhood asthma in the Chinese population.
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