Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

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

Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection ar

New Mediterranean Marine Biodiversity Records (December 2013)

Based on recent biodiversity studies carried out in different parts of the Mediterranean, the following 19 species are included as new records on the floral or faunal lists of the relevant ecosystems: the green algae Penicillus capitatus (Maltese waters); the nemertean Amphiporus allucens (Iberian Peninsula, Spain); the salp Salpa maxima (Syria); the opistobranchs Felimida britoi and Berghia coerulescens (Aegean Sea, Greece); the dusky shark Carcharhinus obscurus (central-west Mediterranean and Ionian Sea, Italy); Randall’s threadfin bream Nemipterus randalli, the broadbanded cardinalfish Apogon fasciatus and the goby Gobius kolombatovici (Aegean Sea, Turkey); the reticulated leatherjack Stephanolepis diaspros and the halacarid Agaue chevreuxi (Sea of Marmara, Turkey); the slimy liagora Ganonema farinosum, the yellowstripe barracuda Sphyraena chrysotaenia, the rayed pearl oyster Pinctada imbricata radiata and the Persian conch Conomurex persicus (south-eastern Kriti, Greece); the blenny Microlipophrys dalmatinus and the bastard grunt Pomadasys incisus (Ionian Sea, Italy); the brown shrimp Farfantepenaeus aztecus (north-eastern Levant, Turkey); the blue-crab Callinectes sapidus (Corfu, Ionian Sea, Greece). In addition, the findings of the following rare species improve currently available biogeographical knowledge: the oceanic pufferfish Lagocephalus lagocephalus (Malta); the yellow sea chub Kyphosus incisor (Almuñécar coast of Spain); the basking shark Cetorhinus maximus and the shortfin mako Isurus oxyrinchus (north-eastern Levant, Turkey).JRC.H.1-Water Resource