Characterization of main grapevine varieties of Albania and Kosovo based on molecular data

Research Not

Integrating children's perspectives in policy-making to combat poverty and social exclusion experienced by single-parent families: a transnational comparative approach

This is the final report of a research project that addressed social exclusion and poverty as it relates to single parent families and their children in particular. The rising numbers of single parent families and children throughout the EU and the increased likelihood that these families will live in poverty and experience many different forms of social exclusion in their daily lives brings in sharp focus the need to address the issue as an urgent one in our efforts to eradicate poverty and social exclusion. The focus on the children of single parent families seeks to rectify a long-standing problem in our knowledge and understanding of single parent families and the social problems they face, namely, the fact that little, if anything, is known about how these children experience and understand their lives as members of these families. The research set out to contribute to policy development and the transnational exchange of best practice by adding a much-neglected dimension on single parent families. The project used a cross-national comparative qualitative research design and methods (Mangen 1999) which involved all partners in the design of each research phase including the analysis; partners were England, Cyprus and Greece

A combined approach involving ampelographic description, berry oenological traits and molecular analysis to study native grapevine varieties of Greece

A combined approach involving phenotypical characterization (ampelographic description and oenological traits) and molecular analysis was applied on 91 accessions of native Greek grape varieties plus 3 references, all conserved in the Ampelographic Collection of the Aristotle University of Thessaloniki. The accessions were described in accordance to 48 OIV descriptors. Their berry oenological traits were determined at maturity to detect a high juice sugar concentration in most of the assessed varieties, whereas the titratable acidity was found to be extremely low, particularly in the white accessions. Moreover, skin anthocyanin and phenolic content fluctuated from 0.09 to 39.4 mg∙g-1 f.w. and from 2.05 to 30.65 mg∙g-1 f.w. respectively, whereas seed phenolic content was in the range of 2.83 and 32.72 mg∙g-1 f.w. Finally, the discriminative SSR analysis confirmed the differences and similarities among the analyzed varieties as can be evinced from the phylogenetic analysis where close genetic relationship has been detected between 'Fokiano' and 'Armeletousa', 'Moschato Spinas' and 'Moschato Samou', 'Vilana' and 'Asprouda Patron', and 'Mouchtouri' and 'Mavro Spetson'. In all these occasions, the parts of each pair possess similar morphological characteristics

Fine-Scale mapping of the 11q13 breast cancer susceptibility locus

The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799–121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000–120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Perallelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08–1.13, $\small \textit{P}$ = 1.49 x 10$^{-21}$). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity $\small \textit{P}$ $\leq$ 8.41 x 10$^{-5}$). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.Cancer Research UK (Grant IDs: C1287/A10118, C1287/A12014, C490/A10124, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), European Community's Seventh Framework Programme (Grant ID: HEALTH-F2-2009-223175), National Institutes of Health (Grant IDs: CA128978, CA116167, CA176785, CA116201, CA63464, CA54281, CA098758, CA132839, R01CA100374, R01CA64277, R01CA148667, R37CA70867, R01CA092447), National Institute for Health Research. See also Table K via http://dx.doi.org/10.1371/journal.pone.0160316.s003This is the final version of the article. It first appeared from the Public Library of Science via http://dx.doi.org/10.1371/journal.pone.016031

Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk

Most breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to cis-regulate the expression of genes. We hypothesise that cis-regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes and/or miRNA binding. To test this, we adapted two miRNA-binding prediction algorithms-TargetScan and miRanda-to perform allele-specific queries, and integrated differential allelic expression (DAE) and expression quantitative trait loci (eQTL) data, to query 150 genome-wide significant ( P≤5×10-8 ) raSNPs, plus proxies. We found that no raSNP mapped to a miRNA gene, suggesting that altered miRNA targeting is an unlikely mechanism involved in BC risk. Also, 11.5% (6 out of 52) raSNPs located in 3'-untranslated regions of putative miRNA target genes were predicted to alter miRNA::mRNA (messenger RNA) pair binding stability in five candidate target genes. Of these, we propose RNF115, at locus 1q21.1, as a strong novel target gene associated with BC risk, and reinforce the role of miRNA-mediated cis-regulation at locus 19p13.11. We believe that integrating allele-specific querying in miRNA-binding prediction, and data supporting cis-regulation of expression, improves the identification of candidate target genes in BC risk, as well as in other common cancers and complex diseases.Funding Agency Portuguese Foundation for Science and Technology CRESC ALGARVE 2020 European Union (EU) 303745 Maratona da Saude Award DL 57/2016/CP1361/CT0042 SFRH/BPD/99502/2014 CBMR-UID/BIM/04773/2013 POCI-01-0145-FEDER-022184info:eu-repo/semantics/publishedVersio

IMPROVING THE RESOLUTION OF SEISMIC HAZARD ESTIMATES FOR CRITICAL FACILITIES: THE DATABASE OF GREEK CRUSTAL SEISMOGENIC SOURCES IN THE FRAME OF THE SHARE PROJECT

SHARE (Seismic Hazard Harmonization in Europe) European project aims at delivering measurable progress in all steps leading to a harmonized assessment of seismic hazard in Europe -in the definition of engineering requirements, in the collection and analysis of input data, in procedures for hazard assessment, and in engineering applications. In this frame, a database of the shallow (crustal) seismogenic sources for the broader Aegean Region is developed The Greek database focuses on three major goals: (i) the systematic collection of all available information concerning neotectonic, active and capable faults as well as broader seismogenic volumes; (ii) the critical analysis of the data and the quantification of the principal seismotectonic parameters of the various sources and the associated degree of uncertainty; (iii) to supply an integrated view of potentially damaging seismogenic sources for a better SHA in Greece. The informatic framework of the database follows that used for the Italian DISS. In this paper we present the state-of-the-art of the Composite Seismogenic Sources (CSS) for the broader Aegean region. The Aegean Region is among the most tectonically active areas of the Mediterranean realm and has the highest seismicity both in terms of frequency of events and magnitudes. The tectonic regime is rather complex producing earthquakes with many different orientations of nodal planes and a large variety of fault types both in terms of dimension and kinematics. It is not always straightforward to correlate seismicity with the causative fault(s). This is mainly due to two reasons: firstly, several crustal sectors of the Aegean, where historical or instrumental epicentres are located, are affected by a dense fault population bearing evidences of recent activity but with badly defined seismotectonic behaviour. Secondly, large sectors of the broader Aegean Region are covered by the sea, therefore lacking crucial field and direct observations. In the latter case, the typical geological approaches are generally replaced with geophysical and seismological investigations (detailed bathymetry, seismic profiles, microseismicity, focal mechanisms, etc.), which can be proved very useful. A first attempt to create a similar database for the Greek territory was carried out during the EU project FAUST (2001), where ca. 50 earthquake-related sources have been included. In contrast, the most recent and the most complete map of capable faults in Greece and the broader Aegean Region has been compiled by Other attempts have been performed in the past, but all of them were lacking in both fault and data completeness. For example, simple map compilations cannot provide much information except the geographical location and few geometrical characteristics of the faults, like length and dip direction. On the other hand, fault catalogues generally lack important additional data, like geometric, kinematic and seismological ones. In order to bypass the above problems and to make the database a continuously updatable open-file, the choice of a GIS-based software was crucial. For our purpos-232 GNGTS 2011 SESSIONE 2.

Balloon cells promote immune system activation in focal cortical dysplasia type 2b

AIMS: Focal cortical dysplasia (FCD) type 2 is an epileptogenic malformation of the neocortex associated with somatic mutations in the mammalian target of rapamycin (mTOR) pathway. Histopathologically, FCD 2 is subdivided into FCD 2a and FCD 2b, the only discriminator being the presence of balloon cells (BCs) in FCD 2b. While pro‐epileptogenic immune system activation and inflammatory responses are commonly detected in both subtypes, it is unknown what contextual role BCs play. METHODS: The present study employed RNA sequencing of surgically resected brain tissue from FCD 2a (n = 11) and FCD 2b (n = 20) patients compared to autopsy control (n = 9) focusing on three immune system processes: adaptive immunity, innate immunity and cytokine production. This analysis was followed by immunohistochemistry on a clinically well‐characterised FCD 2 cohort. RESULTS: Differential expression analysis revealed stronger expression of components of innate immunity, adaptive immunity and cytokine production in FCD 2b than in FCD 2a, particularly complement activation and antigen presentation. Immunohistochemical analysis confirmed these findings, with strong expression of leukocyte antigen I and II in FCD 2b as compared to FCD 2a. Moreover, T‐lymphocyte tissue infiltration was elevated in FCD 2b. Expression of markers of immune system activation in FCD 2b was concentrated in subcortical white matter. Lastly, antigen presentation was strongly correlated with BC load in FCD 2b lesions. CONCLUSION: We conclude that, next to mutation‐driven mTOR activation and seizure activity, BCs are crucial drivers of inflammation in FCD 2b. Our findings indicate that therapies targeting inflammation may be beneficial in FCD 2b

Glucocorticoid receptor haploinsufficiency causes hypertension and attenuates hypothalamic-pituitary-adrenal axis and blood pressure adaptions to high-fat diet

Glucocorticoid hormones are critical to respond and adapt to stress. Genetic variations in the glucocorticoid receptor (GR) gene alter hypothalamic-pituitary-adrenal (HPA) axis activity and associate with hypertension and susceptibility to metabolic disease. Here we test the hypothesis that reduced GR density alters blood pressure and glucose and lipid homeostasis and limits adaption to obesogenic diet. Heterozygous GR βgeo/+ mice were generated from embryonic stem (ES) cells with a gene trap integration of a β-galactosidase-neomycin phosphotransferase (βgeo) cassette into the GR gene creating a transcriptionally inactive GR fusion protein. Although GRβgeo/+ mice have 50% less functional GR, they have normal lipid and glucose homeostasis due to compensatory HPA axis activation but are hypertensive due to activation of the renin-angiotensin- aldosterone system (RAAS). When challenged with a high-fat diet, weight gain, adiposity, and glucose intolerance were similarly increased in control and GRβgeo/+ mice, suggesting preserved control of intermediary metabolism and energy balance. However, whereas a high-fat diet caused HPA activation and increased blood pressure in control mice, these adaptions were attenuated or abolished in GRβgeo/+ mice. Thus, reduced GR density balanced by HPA activation leaves glucocorticoid functions unaffected but mineralocorticoid functions increased, causing hypertension. Importantly, reduced GR limits HPA and blood pressure adaptions to obesogenic diet