EDA2R Is Associated with Androgenetic Alopecia

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Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

Background. A multiplicity of study designs such as gene candidate analysis, genome wide search (GWS) and, recently, whole genome association studies have been employed for the identification of the genetic components of essential hypertension (EH). Several genome-wide linkage studies of EH and blood pressure-related phenotypes demonstrate that there is no single locus with a major effect while several genomic regions likely to contain EH-susceptibility loci were validated by multiple studies. Methods. We carried out the clinical assessment of the entire adult population in a Sardinian village (Talana) and we analyzed 16 selected families with 62 hypertensive subjects out of 267 individuals. We carried out a double GWS using a set of 902 uniformly spaced microsatellites and a high-density SNPs map on the same group of families. Results. Three loci were identified by both microsatellites and SNP scans and the obtained linkage results showed a remarkable degree of similarity. These loci were identified on chromosome 2q24, 11q23.1–25 and 13q14.11–21.33. Further support to these findings is their broad description present in literature associated to EH or related phenotypes. Bioinformatic investigation of these loci shows several potential EH candidate genes, several of whom already associated to blood pressure regulation pathways. Conclusion. Our search for major susceptibility EH genetic factors evidences that EH in the genetic isolate of Talana is due to the contribution of several genes contained in loci identified and replicated by earlier findings in different human populations

Inter and intra-population variability of the migratory behaviour of a short-distance partial migrant, the Eurasian Stone-curlew Burhinus oedicnemus (Charadriiformes, Burhinidae)

Migratory behaviour in birds shows a remarkable variability at species, population and individual levels. Short-distance migrants often adopt a partial migratory strategy and tend to have a flexible migration schedule that allows a more effective response to extreme environmental variations. Weather seasonality and environmental heterogeneity have been reported as significant factors in the diversification of migratory behaviour for Mediterranean migrants, but relatively few studies investigated the migration patterns of non-passerine birds migrating within the Mediterranean basin. In this study, we investigated the migratory strategy of 40 Eurasian Stone-curlews Burhinus oedicnemus tagged with geolocators and GPS-GSM tags and belonging to continental and Mediterranean populations of the Italian peninsula. The proportion of migrants was higher in continental populations, but we observed a significant variability also within Mediterranean populations. All birds spent the winter within the Mediterranean basin. Continental Stone-curlews departed earlier in spring and later in autumn and covered longer distances than those from Mediterranean areas. The speed of migration did not change between seasons for continental birds, while Mediterranean individuals migrated faster in spring. The likelihood of departure for autumn migration of GPS-tagged birds increased when temperatures were near or below 0 °C suggesting that Stone-curlews tend to delay departure until weather conditions worsen abruptly. As a consequence of global warming in the Mediterranean, the frequency of migratory birds in the considered populations might decrease in the near future. This could affect the distribution of species throughout the year and should be taken into account when targeting conservation measures

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

To better design association studies for complex traits in isolated populations it's important to understand how history and isolation moulded the genetic features of different communities. Population isolates should not “a priori” be considered homogeneous, even if the communities are not distant and part of a small region. We studied a particular area of Sardinia called Ogliastra, characterized by the presence of several distinct villages that display different history, immigration events and population size. Cultural and geographic isolation characterized the history of these communities. We determined LD parameters in 8 villages and defined population structure through high density SNPs (about 360 K) on 360 unrelated people (45 selected samples from each village). These isolates showed differences in LD values and LD map length. Five of these villages show high LD values probably due to their reduced population size and extreme isolation. High genetic differentiation among villages was detected. Moreover population structure analysis revealed a high correlation between genetic and geographic distances. Our study indicates that history, geography and biodemography have influenced the genetic features of Ogliastra communities producing differences in LD and population structure. All these data demonstrate that we can consider each village an isolate with specific characteristics. We suggest that, in order to optimize the study design of complex traits, a thorough characterization of genetic features is useful to identify the presence of sub-populations and stratification within genetic isolates

Concurrency and data locality for sparse linear algebra on modern processors

Graphics processing units (GPUs) are used as accelerators for algorithms in which the same instructions are carried out on different data. Algorithms for sparse linear algebra can achieve good performance on GPU, although they tend to have an irregular pattern of accesses to memory. The performance of these algorithms is highly dependent on input data. In fact, the parallelism these algorithms can achieve is limited by the opportunities for concurrency given by the data. Focusing on the solution of sparse riangular linear systems of equations, this thesis shows that a good partitioning of the data and a good scheduling of the computation can greatly improve performance on GPUs. For this class of algorithms, a partition of the data that maximises concurrency in the execution does not necessarily achieve the best performance. Instead, improving data locality by reducing concurrency reduces the latency of memory access and consequently the execution time. First, this work characterises the problem formally using graph theory and performance models. Then, algorithms that can be used effectively to partition the data are described. These algoritms aim to balance concurrency and data locality automatically. This approach is evaluated experimentally on the solution of linear equations with the preconditioned conjugate gradient method. Also, the thesis shows that the proposed approach can be used in the case when a matrix changes during the execution of an algorithm from one iteration to the other, like in the simplex method. In this case, the approach proposed in this thesis allows to update the partition of the matrix from one iteration to the other. Finally, the algorithms and performance models developed in the thesis are used to discuss the limitations of the acceleration of the simplex method with GPUs.Open Acces

Scalable hybrid CORDIC-LUT architectures for CG-FFT processors

In this work we introduce Processing Element (PE) scalability in twiddle factor generators for FFT processors. First the twiddle factor indexing scheme for Constant Geometry FFT is analyzed and a CORDIC-based novel algorithm is deduced. It uses single-step rotations and does not need any CORDIC gain correction. Then, two architectures implementing the algorithm are presented with the goal of scalability. The first (shared core) is characterized by both low register count and variable throughput, while the second (pipelined) achieves the maximum throughput during the whole computation. Our hybrid models use both one ROM and multiplier-based CORDIC modules. The designs are then evaluated in terms of register usage and output error, showing scalability of register bits as a function of the number of PEs if compared to other architectures. Architectures were coded in VHDL and synthesized on a Xilinx Virtex-5 330T FPGA

NEFA, BHBa and gamma-GT variation in the blood serum of weaned foals up to 18 months of age

The correct energy balance estimation of the growing foal may represent an issue for the nutritionist, given the dynamic change in body composition and fat tissue depots. In fact, the maintenance of adequate body weight and body measures over time for optimal growth curve accomplishment and the fulfilment of nutrient requirements are fundamental to address adequate individual feeding plans of the future sport horse. The metabolic profile of selected metabolites could be helpful in interpreting growth homeostasis and some of these could be used as indicators of energy balance state and liver health. Against this background, the literature on circulating indicators of homeostasis perturbation during the growth of foals is poor. We hypothesised that metabolites indicating the energy balance like non-esterified fatty acids (NEFA), β-hydroxy-butyric acid (BHBa) and liver enzyme like γ-glutamyl-transferase (γ-GT) [interpreted in the light of circulating total bilirubin (TBIL) and aspartate aminotransferase (AST)] may be used to monitor the growing foals from weaning to 18 months of age. For this purpose, a total of 12 Anglo-Arab (AA) foals from the same stable were enrolled in this trial. All foals were serially weighed on a digital scale and sampled for total blood at weaning, at 12- and 18-months of age. Feeding and rearing conditions were adopted simultaneously equal for all the foals used. All data were processed by a repeated measure ANOVA

Dye plants: Natural resources from traditional botanical knowledge of Sardinia Island, Italy

Now a days the use of wild plant species for colouring textile articles is very modest in Europe, mainly because of the incessant production of synthetic dyes, which are economic and easy to find. The tradition of using dye plants still persists in the Mediterranean region, but is not widely studied. In this paper, the authors, for the first time, study the natural colours and wild species used in the popular Sardinian tradition. They try to bring order and Scientific rigor of an important topic, with an emphasis on the economic value of knowledge passed down orally from generation to generation

Dye plants: Natural resources from traditional botanical knowledge of Sardinia Island, Italy

651-656<span style="mso-bidi-font-size: 11.0pt;mso-fareast-font-family:Calibri" lang="EN-GB">Now a days the use of wild plant species for colouring textile articles is very modest in Europe, mainly because of the incessant production of synthetic dyes, which are economic and easy to find. The tradition of using dye plants still persists in the Mediterranean region, but is not widely studied. In this paper, the authors, for the first time, study the natural colours and wild species used in the popular Sardinian tradition. They try to bring order and Scientific rigor of an important topic, with an emphasis on the economic value of knowledge passed down orally from generation to generation. </span

A Genomewide Search Using an Original Pairwise Sampling Approach for Large Genealogies Identifies a New Locus for Total and Low-Density Lipoprotein Cholesterol in Two Genetically Differentiated Isolates of Sardinia

A powerful approach to mapping the genes for complex traits is to study isolated founder populations, in which genetic heterogeneity and environmental noise are likely to be reduced and in which extended genealogical data are often available. Using graph theory, we applied an approach that involved sampling from the large number of pairwise relationships present in an extended genealogy to reconstruct sets of subpedigrees that maximize the useful information for linkage mapping while minimizing calculation burden. We investigated, through simulation, the properties of the different sets in terms of bias in identity-by-descent (IBD) estimation and power decrease under various genetic models. We applied this approach to a small isolated population from Sardinia, the village of Talana, consisting of a unique large and complex pedigree, and performed a genomewide search through variance-components linkage analysis for serum lipid levels. We identified a region of significant linkage on chromosome 2 for total serum cholesterol and low-density lipoprotein (LDL) cholesterol. Through higher-density mapping, we obtained an increased linkage for both traits on 2q21.2-q24.1, with a LOD score of 4.3 for total serum cholesterol and of 3.9 for LDL cholesterol. A replication study was performed in an independent and larger set from a genetically differentiated isolated population of the same region of Sardinia, the village of Perdasdefogu. We obtained consistent linkage to the region for total serum cholesterol (LOD score 1.4) and LDL cholesterol (LOD score 2.2), with a level of concordance uncommon for complex traits, and refined the location of the quantitative-trait locus. Interestingly, the 2q21.1-22 region has also been linked to premature coronary heart disease in Finns, and, in the adjacent 2q14 region, significant linkage with triglycerides has been reported in Hutterites