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Validation of PPP1R12B as a candidate gene for childhood asthma in Russians
Childhood asthma candidate gene PPP1R12B was identified in the first genomewide association study (GWAS) in Russians of west Siberia. Here, we report validation of this discovery in an independent cohort of Russians from the city of Kursk. Twenty-six single-nucleotide polymorphisms (SNP) in the gene were analysed, of which four were significantly associated with childhood asthma. Haplotypic structure of four markers was different in control and childhood asthma samples, implicating the importance of PPP1R12B haplotypes in predisposition to the disease. The haplotype comprising common alleles was protective against asthma, while other haplotypes were positively associated with the disease. We propose possible mechanisms of the association, including impact of the gene on airway hyperresponsiveness and C-C chemokine receptor 3 signalling pathway modulation.
