181 resultados para COMMON VARIANTS


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The common lizard (Zootoca vivipara) is Ireland’s only native reptile, forming a key part of the island’s biodiversity. However, there is a general paucity of distributional and abundance data for the species. In this study, we collated incidental records for common lizard sightings to define the distribution of the species in Northern Ireland. Maximum entropy modelling was employed to describe species-habitat associations. The resulting predicted landscape favourability was used to evaluate the current status of the species based on the distribution of its maximum potential range in relation to the degree of fragmentation of remaining suitable habitat. In common with previous studies in the Republic of Ireland, sightings were highly clustered indicating under-recording, observer bias, and fragmentation of suitable habitat. A total of 98 records were collated from 1905 to 2009. The species was recorded in 63 (ca. 34%) of 186 × 10 km Northern Irish grid squares. Lizard occurrence was strongly and positively associated with landscapes dominated by heathland, bog and coastal habitats. The single best approximating model correctly classified the presence of lizards in 84.2% of cases. Upland heath, lowland raised bog and sand dune systems are all subject to Habitat Action Plans in Northern Ireland and are threatened by conversion to agriculture, afforestation, invasive species encroachment and infrastructural development. Consequently, remaining common lizard populations are likely to be small, isolated and highly fragmented. Establishment of an ecological network to preserve connectivity of remaining heath and bog will not only benefit remaining common lizard populations but biodiversity in general.

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Aims Diabetic nephropathy is a leading cause of end-stage renal disease. The transforming growth factor beta-bone morphogenic protein (BMP) pathway is implicated in the pathogenesis of diabetic nephropathy. The BMP2, BMP4 and BMP7 genes are located near linkage peaks for renal dysfunction, and we hypothesize that genetic polymorphisms in these biological and positional candidate genes may be risk factors for diabetic kidney disease.

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Background: The insulin-degrading enzyme gene (IDE) is a strong functional and positional candidate for late onset Alzheimer's disease (LOAD).

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We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848 controls), we replicated the established association with the apolipoprotein E (APOE) locus (most significant SNP, rs2075650, P = 1.8 x 10(-157)) and observed genome-wide significant association with SNPs at two loci not previously associated with the disease: at the CLU (also known as APOJ) gene (rs11136000, P = 1.4 x 10(-9)) and 5. to the PICALM gene (rs3851179, P = 1.9 x 10(-8)). These associations were replicated in stage 2 (2,023 cases and 2,340 controls), producing compelling evidence for association with Alzheimer's disease in the combined dataset (rs11136000, P = 8.5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86).

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This paper reports on a study of the ways in which 54 older people in South Wales (UK) talk about the symptoms and causes of cold and influenza (flu). The study was designed to understand why older people might reject or accept the offer of seasonal flu vaccine, and in the course of the interviews respondents were also asked to express their views about the nature and causes of the two key illnesses. The latter are among the most common infections in human beings. In terms of the biomedical paradigm the common cold is caused by numerous respiratory viruses, whilst flu is caused by the influenza virus. Medical diagnosis is usually made on clinical grounds without laboratory confirmation. Symptoms of flu include sudden onset of fever and cough, and colds are characterized by sneezing, sore throat, and runny nose, but in practice the symptoms often overlap. In this study we examine the degree by which the views of lay people with respect to both diagnosis and epidemiology diverge with that which is evident in biomedical discourse. Our results indicate that whilst most of the identified symptoms are common to lay and professional people, the former integrate symptoms into a markedly different observational frame from the latter. And as far as causation is concerned it is clear that lay people emphasize the role of 'resistance' and 'immunity' at least as much as 'infection' in accounting for the onset of colds and flu. The data are analyzed using novel methods that focus on the co-occurrence of concepts and are displayed as semantic networks. As well as reporting on its findings the authors draw out some implications of the study for social scientific and policy discussions concerning lay diagnosis, lay expertise and the concept of an expert patient.