2 research outputs found

    Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.

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    Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

    The UNESCO Biosphere Reserve “Biosphärenpark Wienerwald” (Vienna Woods) – a Long History of Conservation. eco.mont (Journal on Protected Mountain Areas Research)|eco.mont Vol. 1 No. 1|

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    Due to its high diversity and the considerable number of rare and endangered species and habitats, the Wienerwald region (Vienna Woods) has been integrated into various protected area programmes (landscape conservation areas, nature conservation areas, natural monuments, nature parks as defined by national law, the Flora Fauna Habitat Directive of the European Union, including the nomination of large parts for the NATURA 2000 Network). The designation of the Wienerwald as a biosphere reserve within UNESCO's World Network of Biosphere Reserves provides an ideal framework for all ongoing conservation activities. The basic idea of biosphere reserves to link conservation with sustainable use is well suited to the specific situation of the Wienerwald and its extraordinary ecosystem
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