995 resultados para association génétique fœto-maternelle


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Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r(2)

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Tuberculosis (TB) caused by Mycobacterium bovis is a re-emerging disease of livestock that is of major economic importance worldwide, as well as being a zoonotic risk there is significant heritability for host resistance to bovine TB (bTB) in dairy cattle. To identify resistance loci for bTB, we undertook a genome-wide association study in female Holstein-Friesian cattle with 592 cases and 559 age-matched controls from case herds. Cases and controls were categorised into distinct phenotypes: skin test and lesion positive vs skin test negative on multiple occasions, respectively these animals were genotyped with the Illumina BovineHD 700K BeadChip. Genome-wide rapid association using linear and logistic mixed models and regression (GRAMMAR), regional heritability mapping (RHM) and haplotype-sharing analysis identified two novel resistance loci that attained chromosome-wise significance, protein tyrosine phosphatase receptor T (PTPRT; P=4.8 × 10 -7) and myosin IIIB (MYO3B; P=5.4 × 10 -6). We estimated that 21% of the phenotypic variance in TB resistance could be explained by all of the informative single-nucleotide polymorphisms, of which the region encompassing the PTPRT gene accounted for 6.2% of the variance and a further 3.6% was associated with a putative copy number variant in MYO3B the results from this study add to our understanding of variation in host control of infection and suggest that genetic marker-based selection for resistance to bTB has the potential to make a significant contribution to bTB control.

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This paper explores the response by the Greek Association of Social Workers (SKLE) to Greece's current economic crisis. Socioeconomic conditions in Greece have deteriorated rapidly since the imposition of a Structural Adjustment Programme as a condition of the loan Troika provided to Greece to address its class-based public debt crisis. Interviews were conducted with SKLE Executive Committee members to examine SKLE's response in the context of newly raised inequalities. Research results show that SKLE recognised the negative consequences to both service users and its members. However, SKLE continues to reformulate its strategy mostly as a social partner. SKLE's previous strategy entailed amongst other things the analysis of policy proposals and participation in welfare related government committees. This strategy is no longer relevant because decision-making powers have been transferred to transnational bodies. This paper elaborates on these findings and discusses the barriers that prohibit SKLE from differentiation of its strategy. Although the research is country specific, it has implications for the broader global debate because professional associations must reformulate their strategies for better serving of both their constituents and the collective good based on the social justice mandate of the profession.