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

Effect of Age on High T1 Signal Intensity of the Dentate Nucleus and Globus Pallidus in a Large Population Exposed to Gadodiamide

Neuro Imaging Researc

Ultrasonic Measurements In Brazilian Hardwood

This paper reports on a study of the application of ultrasound waves in wood with the purpose of evaluating the latter's mechanical properties. The evaluation is based on the correlation between the speed of sound, modulus of elasticity and density. The speed of transmission is sensitive to the material's quality-determining factors; hence, this technique is an important industrial tool to improve the quality control of processes. The species used in the experimental procedure were "cupiúba" (Goupia glabra) and "jatobá" (Hymenaea sp). Tests were carried out to determine the properties of apparent density at 12% humidity content (rhoap,12%), modulus of elasticity in static deflection (E M), and modulus of rupture (MOR). Ultrasound tests were also performed to find the stiffness matrix coefficient (C LL), for purposes of comparison with the static findings. The results and analyses lead us to conclude that the nondestructive ultrasound method can be employed to obtain reliable evaluations of the mechanical properties of dicotyledons