High-throughput SNPs genotyping analyzes in children diagnosed with asthma bronchiale


Nana Tabashidze, Pavel Rössner jr., Jan Topinka, Miroslav Dostál, Radim J. Šrám


Institute of Experimental Medicine, Czech Academy of Science

Asthma bronchiale likely results from a complex interplay between genetic and environmental factors. The purpose of this study was to evaluate a possible association of a group of single nucleotide polymorphisms (SNPs) with asthma bronchiale in children. We investigated 385 SNPs in samples from 354 children aged 6-15 years, from the polluted area of the City of Ostrava (Bartovice) and the rural towns of the Czech Republic: Prachatice, Vimperk, Vlachovo Brezi and Netolice. Air quality (PM2.5, c-PAHs) was continuously monitored in both regions. SNPs were selected from the Cancer Genome Anatomy Project SNP500 Cancer Database. The custom made panel contains representatives from 4 groups of genes: xenobiotic metabolism and detoxification genes, DNA repair genes, genes that mediate immune and inflammatory responses and genes that are involved in oxidative processes. The assay was performed on DNA samples extracted from children’s saliva; genetic polymorphisms were assessed using the Illumina BeadStation 500 System. The data were analyzed using the Illumina BeadStudio software. It was found the statistical significant 45 SNPs associated with asthma.The statistical significant SNPs from rural towns and Ostrava are distinctive. Statistical significant SNPs were associated with asthma from Ostrava children group: CYP1A1-01 rs1048943, EPHX1-14 rs2671272, EPHX1-20 rs2854455, ERCC2-06 rs238406, ERCC2-09 1799787, IFNG -07 rs1861494, IL13-02 rs1881457, LIG1-29 rs156641, TOLLIP-04 rs5743867. Obtained results indicate there may be some specific SNPs associated with asthma bronchiale from air polluted area Ostrava.  Supported by the Czech Ministry of Environment SP/1b3/50/07 and Czech Academy of Sciences AVOZ50390512.

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