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ELIXIR-EXCELERATE: establishing Europe's data infrastructure for the life science research of the future A new inter-governmental research infrastructure, ELIXIR, aims to unify bioinformatics resources and life science data across Europe, thereby facilitating their mining and (re-)use. Establishing an open data framework for European life science through ELIXIR infrastructure Essential to FAIR data and optimal data reuse is a strategy for data management. Processing and deposition data resources for biodiversity data from the marine metagenome Metagenomic data are a relatively new source of genomic data derived from samples from a wide range of environments, ranging from marine and soil, to the human gut. [Extracted from the article]

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Barley (Hordeum vulgare L.) production in many regions is constrained by low temperatures. Numerous screening methods have been proposed for studies of freezing tolerance (FT) and 4/inter hardiness (WH), Here, we compared the response to low temperature of 54 barley genotypes released in Europe. Major components of WH were analyzed in field and growth chamber experiments under different hardening and freezing conditions. Phenotype screening of freezing injury (lethal temperature for 50% of the plants [I50], plant survival, and chlorophyll f!uorescence) and indirect evaluations (molecular-marker-based analysis of vernalization requirement) were used. The maximum quanyield of the photosystem II photochemistry measured as the variable (F) to maximal (Fm) fluorescence ratio (Fy:Fm) analysis was confirmed as a reliable method of screening genetic diversity for FT in plants at early growth stages. Variability for FT was also found after shorter acclimation at optimal (3/1°C day/night) or suboptimal (12/7°C day/night) hardening temperatures. High levels of FT and WH were found in both winter and facultative growth habits. Facultative genotypes were more responsive to early hardening than spring or winter types. Some of them coped best with frost in both laboratory and field experiments. The most tolerant winter genotypes coped best with prolonged exposure to low temperature in the field experiments. A conservative estimation of the role of FT in WH implies that at least 50% of WH was associated with the level of FT. A combined analysis using physiological and molecular tools is proposed for phenotyping WH in large populations. [ABSTRACT FROM AUTHOR]

An investigation into fine-scale European population structure was carried out using high-density genetic variation on nearly 6000 individuals originating from across Europe. The individuals were collected as control samples and were genotyped with more than 300 000 SNPs in genome-wide association studies using the Illumina Infinium platform. A major East–West gradient from Russian (Moscow) samples to Spanish samples was identified as the first principal component (PC) of the genetic diversity. The second PC identified a North–South gradient from Norway and Sweden to Romania and Spain. Variation of frequencies at markers in three separate genomic regions, surrounding LCT, HLA and HERC2, were strongly associated with this gradient. The next 18 PCs also accounted for a significant proportion of genetic diversity observed in the sample. We present a method to predict the ethnic origin of samples by comparing the sample genotypes with those from a reference set of samples of known origin. These predictions can be performed using just summary information on the known samples, and individual genotype data are not required. We discuss issues raised by these data and analyses for association studies including the matching of case-only cohorts to appropriate pre-collected control samples for genome-wide association studies.European Journal of Human Genetics (2008) 16, 1413–1429; doi:10.1038/ejhg.2008.210 [ABSTRACT FROM AUTHOR]

Background: Promoting older workers' health in the context of increasing labor force participation and skill shortages is crucial. Examining job resource profiles offers a promising approach to understanding how to promote and maintain the health of older workers within the workplace. However, it is unclear how different job resources interact within distinct worker subgroups. Thus, this study explores the association between the job resource profiles of distinct subgroups and various health indicators among older workers in Europe., Methods: Data from 4,079 older workers (age range: 50-60 years, 57% female) from waves 6 and 8 of the Survey of Health, Ageing and Retirement in Europe (SHARE) were analyzed. Latent profile analysis was employed to identify distinct job resource profiles using social support, recognition, job promotion, autonomy, and development opportunities. Associations between these profiles and various health indicators were examined, alongside the sociodemographic and socioeconomic characteristics associated with each profile., Results: Four distinct job resource profiles emerged: (I) average job resource workers (n = 2170, 53%), (II) high social job resource workers (n = 983, 24%), (III) low job resource workers (n = 538, 13%), and (IV) autonomous decision-making workers (n = 388, 10%). Workers in the (II) high social job resource profile had the highest socioeconomic status and reported the best self-perceived health, lowest depressive symptoms, and fewest limitations and chronic diseases. Conversely, workers in the (III) low job resource profile had the second-lowest socioeconomic status and reported the poorest health outcomes. Surprisingly, older workers with high autonomy (profile IV) had the lowest socioeconomic status and the second worst self-perceived health. This may be because they perceive themselves as autonomous while lacking support and recognition., Conclusion: There is wide variation in the level and composition of resources available to older workers in the workplace. The most vulnerable subgroups, such as low job resource workers (profile III) and autonomous decision-making workers (profile IV), could benefit from tailored workplace health promotion interventions, such as support from supervisors or peers. Strengthening older workers' job resources, including social support and recognition, can improve their health and contribute to them remaining in the workforce., (© 2024. The Author(s).)

Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems., Competing Interests: none., (Copyright: © 2023 Garnier et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

In any research field, data access and data integration are major challenges that even large, well-established consortia face. Although data sharing initiatives are increasing, joint data analyses on nutrition and microbiomics in health and disease are still scarce. We aimed to identify observational studies with data on nutrition and gut microbiome composition from the Intestinal Microbiomics (INTIMIC) Knowledge Platform following the findable, accessible, interoperable, and reusable (FAIR) principles. An adapted template from the European Nutritional Phenotype Assessment and Data Sharing Initiative (ENPADASI) consortium was used to collect microbiome-specific information and other related factors. In total, 23 studies (17 longitudinal and 6 cross-sectional) were identified from Italy (7), Germany (6), Netherlands (3), Spain (2), Belgium (1), and France (1) or multiple countries (3). Of these, 21 studies collected information on both dietary intake (24 h dietary recall, food frequency questionnaire (FFQ), or Food Records) and gut microbiome. All studies collected stool samples. The most often used sequencing platform was Illumina MiSeq, and the preferred hypervariable regions of the 16S rRNA gene were V3-V4 or V4. The combination of datasets will allow for sufficiently powered investigations to increase the knowledge and understanding of the relationship between food and gut microbiome in health and disease.

The age-standardised incidence of cervical cancer in Europe varies widely by country (between 3 and 25/100000 women-years) in 2018. Human papillomavirus (HPV) vaccine coverage is low in countries with the highest incidence and screening performance is heterogeneous among European countries. A broad group of delegates of scientific professional societies and cancer organisations endorse the principles of the WHO call to eliminate cervical cancer as a public health problem, also in Europe. All European nations should, by 2030, reach at least 90% HPV vaccine coverage among girls by the age of 15 years and also boys, if cost-effective; they should introduce organised population-based HPV-based screening and achieve 70% of screening coverage in the target age group, providing also HPV testing on self-samples for nonscreened or underscreened women; and to manage 90% of screen-positive women. To guide member states, a group of scientific professional societies and cancer organisations engage to assist in the rollout of a series of concerted evidence-based actions. European health authorities are requested to mandate a group of experts to develop the third edition of European Guidelines for Quality Assurance of Cervical Cancer prevention based on integrated HPV vaccination and screening and to monitor the progress towards the elimination goal. The occurrence of the COVID-19 pandemic, having interrupted prevention activities temporarily, should not deviate stakeholders from this ambition. In the immediate postepidemic phase, health professionals should focus on high-risk women and adhere to cost-effective policies including self-sampling., (© 2020 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of Union for International Cancer Control.)

Background: During the peak of the COronaVIrus Disease 2019 (COVID-19) pandemic, care for patients with gastrointestinal motility and functional disorders was largely suspended. In the recovery phases of the pandemic, non-urgent medical care is resumed, but there is a lack of guidance for restarting and safely conducting motility and function testing. Breath tests and insertion of manometry and pH-monitoring probes carry a risk of SARS-CoV-2 spread through droplet formation., Methods: A panel of experts from the European Society for Neurogastroenterology and Motility (ESNM) evaluated emerging national and single-center recommendations to provide the best current evidence and a pragmatic approach to ensure the safe conduct of motility and function testing for both healthcare professionals and patients., Results: At a general level, this involves evaluation of the urgency of the procedure, evaluation of the infectious risk associated with the patient, the investigation and the healthcare professional(s) involved, provision of the test planning and test units, education and training of staff, and use of personnel protection equipment. Additional guidance is provided for specific procedures such as esophageal manometry, pH monitoring, and breath tests., Conclusions and Inferences: The ESNM guidelines provide pragmatic and appropriate guidance for the safe conduct of motility and function testing in the COVID-19 pandemic and early recovery phase., (© 2020 John Wiley & Sons Ltd.)

Objective: Ageing is accompanied by deterioration of multiple bodily functions and inflammation, which collectively contribute to frailty. We and others have shown that frailty co-varies with alterations in the gut microbiota in a manner accelerated by consumption of a restricted diversity diet. The Mediterranean diet (MedDiet) is associated with health. In the NU-AGE project, we investigated if a 1-year MedDiet intervention could alter the gut microbiota and reduce frailty., Design: We profiled the gut microbiota in 612 non-frail or pre-frail subjects across five European countries (UK, France, Netherlands, Italy and Poland) before and after the administration of a 12-month long MedDiet intervention tailored to elderly subjects (NU-AGE diet)., Results: Adherence to the diet was associated with specific microbiome alterations. Taxa enriched by adherence to the diet were positively associated with several markers of lower frailty and improved cognitive function, and negatively associated with inflammatory markers including C-reactive protein and interleukin-17. Analysis of the inferred microbial metabolite profiles indicated that the diet-modulated microbiome change was associated with an increase in short/branch chained fatty acid production and lower production of secondary bile acids, p-cresols, ethanol and carbon dioxide. Microbiome ecosystem network analysis showed that the bacterial taxa that responded positively to the MedDiet intervention occupy keystone interaction positions, whereas frailty-associated taxa are peripheral in the networks., Conclusion: Collectively, our findings support the feasibility of improving the habitual diet to modulate the gut microbiota which in turn has the potential to promote healthier ageing., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Sarcopenia is characterised by a progressive loss of skeletal muscle mass and physical function as well as related metabolic disturbances. While fibre-rich diets can influence metabolic health outcomes, the impact on skeletal muscle mass and function is yet to be determined, and the moderating effects by physical activity (PA) need to be considered. The aim of the present study was to examine links between fibre intake, skeletal muscle mass and physical function in a cohort of older adults from the NU-AGE study. In 981 older adults (71 ± 4 years, 58% female), physical function was assessed using the short-physical performance battery test and handgrip strength. Skeletal muscle mass index (SMI) was derived using dual-energy X-ray absorptiometry (DXA). Dietary fibre intake (FI) was assessed by 7-day food record and PA was objectively determined by accelerometery. General linear models accounting for covariates including PA level, protein intake and metabolic syndrome (MetS) were used. Women above the median FI had significantly higher SMI compared to those below, which remained in fully adjusted models (24.7 ± 0.2% vs. 24.2 ± 0.1%, p = 0.011, η 2 p = 0.012). In men, the same association was only evident in those without MetS (above median FI: 32.4 ± 0.3% vs. below median FI: 31.3 ± 0.3%, p = 0.005, η 2 p = 0.035). There was no significant impact of FI on physical function outcomes. The findings from this study suggest a beneficial impact of FI on skeletal muscle mass in older adults. Importantly, this impact is independent of adherence to guidelines for protein intake and PA, which further strengthens the potential role of dietary fibre in preventing sarcopenia. Further experimental work is warranted in order to elucidate the mechanisms underpinning the action of dietary fibre on the regulation of muscle mass.

The invasive spotted-wing drosophila, Drosophila suzukii (Matsumura), is a major pest of soft-skinned fruits. Since its introduction into North America and Europe, significant progress has been made in understanding the volatile cues used by this fly during food, oviposition site, and mate finding. Despite this progress, commercially available lures are non-selective. Here, we tested two Hanseniaspora uvarum (Niehaus) yeast compounds (isoamyl acetate and isobutyl acetate) and a leaf compound β-cyclocitral alone and in combination with a blend of four fermentation compounds ('Fermentation lure': acetic acid, ethanol, methionol, and acetoin) to improve D. suzukii attraction and selectivity. In laboratory assays, males and females were attracted to all seven individual compounds, although in electrophysiological assays, their antennae exhibited a dose-dependent response to only four of these compounds. In two-choice cage studies, the Fermentation lure was more attractive to D. suzukii than water controls, whereas β-cyclocitral and the mixture of isoamyl acetate and isobutyl acetate were not attractive in this larger-cage study. Moreover, adding the two-component H. uvarum compound blend to the Fermentation lure reduced D. suzukii attraction to the Fermentation blend. When these experiments were repeated in blueberry, raspberry, blackberry, and cherry orchards across several states in the United States over 2 yr, similar outcomes were observed: β-cyclocitral or the mixture of the H. uvarum blend did not improve the attractiveness of the Fermentation lure or its selectivity. This study demonstrates that cues from different sources may interfere with each other and reduce D. suzukii attraction to otherwise attractive odor combinations., (© The Author(s) 2019. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the value of the genomic data generated, these data will need to be shared between institutions and across countries. In recognition of this challenge, 21 European countries recently signed a declaration to transnationally share data on at least 1 million human genomes by 2022. In this Roadmap, we identify the challenges of data sharing across borders and demonstrate that European research infrastructures are well-positioned to support the rapid implementation of widespread genomic data access.

Objectives: The aim of this work was to examine the cross-sectional relationship between body composition (BC) markers for adipose and lean tissue and bone mass, and a wide range of specific inflammatory and adipose-related markers in healthy elderly Europeans., Methods: A whole-body dual-energy X-ray absorptiometry (DXA) scan was made in 1121 healthy (65-79 years) women and men from five European countries of the "New dietary strategies addressing the specific needs of elderly population for a healthy aging in Europe" project (NCT01754012) cohort to measure markers of adipose and lean tissue and bone mass. Pro-inflammatory (IL-6, IL-6Rα, TNF-α, TNF-R1, TNF-R2, pentraxin 3, CRP, alpha-1-acid glycoprotein, albumin) and anti-inflammatory (IL-10, TGF-β1) molecules as well as adipose-related markers such as leptin, adiponectin, ghrelin, and resistin were measured by magnetic bead-based multiplex-specific immunoassays and biochemical assays., Results: BC characteristics were different in elderly women and men, and more favorable BC markers were associated with a better adipose-related inflammatory profile, with the exception of skeletal muscle mass index. No correlation was found with the body composition markers and circulating levels of some standard pro- and anti-inflammatory markers like IL-6, pentraxin 3, IL-10, TGF-β1, TNF-α, IL-6Rα, glycoprotein 130, TNF-α-R1, and TNF-α-R2., Conclusions: The association between BC and inflammatory and adipose-related biomarkers is crucial in decoding aging and pathophysiological processes, such as sarcopenia. DXA can help in understanding how the measurement of fat and muscle is important, making the way from research to clinical practice., Key Points: • Body composition markers concordantly associated positively or negatively with adipose-related and inflammatory markers, with the exception of skeletal muscle mass index. • No correlation was found with the body composition markers and circulating levels of some standard pro- and anti-inflammatory markers like IL-6, pentraxin 3, IL-10, TGF-β1, TNF-α, IL-6Rα, gp130, TNF-α-R1, and TNF-α-R2. • Skeletal muscle mass index (SMI) shows a good correlation with inflammatory profile in age-related sarcopenia.

The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and genes encoding FAT cadherins. Furthermore, a large majority of patients from Romania have an unexpected high frequency of A:T>T:A transversions, consistent with exposure to aristolochic acid (AA). These results show that the processes underlying ccRCC tumorigenesis may vary in different populations and suggest that AA may be an important ccRCC carcinogen in Romania, a finding with major public health implications.

Although the concept of picture archiving and communications systems (PACS) was developed in Europe during the latter part of the 1970s, no working system was completed at that time. The first PACS implementations took place in the United States in the early 1980s, e.g. at Pennsylvania University, UCLA, and Kansas City University. Some more or less successful PACS developments also took place in Europe in the 1980s, particularly in the Netherlands, Belgium, Austria, the United Kingdom, France, Italy, Scandinavia, and Germany. Most systems could be characterized by their focus on a single department, such as radiology or nuclear medicine. European hospital-wide PACS with high visibility evolved in the early 1990s in London (Hammersmith Hospital) and Vienna (SMZO). These were followed during the latter part of the 1990s by approximately 10-20 PACS installations in each of the major industrialized countries of Europe. Wide-area PACS covering several health care institutions in a region are now in the process of being implemented in a number of European countries. Because of limitations of space some countries, for example, Denmark, Finland, Spain, Greece, as well as Eastern European countries, etc. could not be appropriately represented in this paper., (Copyright © 2011. Published by Elsevier Ireland Ltd.)

Background: Asthma is a disease in which both genetic and environmental factors play important roles. The farming environment has consistently been associated with protection from childhood asthma and atopy, and interactions have been reported with polymorphisms in innate immunity genes., Objective: To detect gene-environment interactions for asthma and atopy in the farming environment., Methods: We performed a genome-wide interaction analysis for asthma and atopy by using 500,000 genotyped single nucleotide polymorphisms (SNPs) and farm-related exposures in 1708 children from 4 rural regions of Central Europe. We also tested selectively for interactions between farm exposures and 7 SNPs that emerged as genome-wide significant in a large meta-analysis of childhood asthma and 5 SNPs that had been reported previously as interacting with farm exposures for asthma or atopy., Results: Neither the asthma-associated SNPs nor the SNPs previously published for interactions with asthma showed significant interactions. The genome-wide interaction study did not reveal any significant interactions with SNPs within genes in the range of interacting allele frequencies from 30% to 70%, for which our study was well powered. Among rarer SNPs, we identified 15 genes with strong interactions for asthma or atopy in relation to farming, contact with cows and straw, or consumption of raw farm milk., Conclusion: Common genetic polymorphisms are unlikely to moderate the protective influence of the farming environment on childhood asthma and atopy, but rarer variants, particularly of the glutamate receptor, metabotropic 1 gene, may do so. Given the limited statistical power of our study, these findings should be interpreted with caution before being replicated in independent farm populations., (Copyright © 2010 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.)

In Poland, all forms of legionellosis are obligatory reported: Legionella pneumonia and extrapulmonary legionellosis (such as Pontiac fever). Total 210 cases caused by Legionella sp. were reported in years 2003-2010. In our study analysis of age, sex, place of residence of 163 patients with legionellosis reported in 2005-2009 were done. The majority (74.2%) cases were reported in Region Mazowieckie. Age and sex structure of patients in Poland in years 2005-2009 differ from the data of EWGLI. In Poland, legionellosis was much more frequently reported in children - 46.6% of the total reported, than in other countries. It might be a result of collaboration with the paediatricians during research conducted by our team in 2005-2007. Reported cases of legionellosis were also observed in 10 children aged < or = 2 years. Totally, legionellosis was observed more frequently among girls than in boys (M: F = 1:1,71), and in males (M: F = 1,64:1). It was also found that in smaller towns (< 100 thousand inhabitants) legionellosis was much more frequently diagnosed in girls (Po = 0.0152, 71.1% of ill children) and men (65.8% of adults). In larger cities (> 100 thousand.) differences in incidence between girls and boys and men and women were lower. To sum up: the number of reported cases of legionellosis depends largely on the availability of laboratory tests and the knowledge of physicians. Extension of diagnostic testing in the direction of Legionnaires' disease patients belonging to other than the high risk group increased number of detected cases, including those not so severe.

Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N ≤ 71,225 European ancestry, N ≤ 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N = 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10(-24)), CYP1A2 (P = 1 × 10(-23)), FGF5 (P = 1 × 10(-21)), SH2B3 (P = 3 × 10(-18)), MTHFR (P = 2 × 10(-13)), c10orf107 (P = 1 × 10(-9)), ZNF652 (P = 5 × 10(-9)) and PLCD3 (P = 1 × 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.

Lung cancer is the most common cause of cancer death worldwide, with over one million cases annually. To identify genetic factors that modify disease risk, we conducted a genome-wide association study by analysing 317,139 single-nucleotide polymorphisms in 1,989 lung cancer cases and 2,625 controls from six central European countries. We identified a locus in chromosome region 15q25 that was strongly associated with lung cancer (P = 9 x 10(-10)). This locus was replicated in five separate lung cancer studies comprising an additional 2,513 lung cancer cases and 4,752 controls (P = 5 x 10(-20) overall), and it was found to account for 14% (attributable risk) of lung cancer cases. Statistically similar risks were observed irrespective of smoking status or propensity to smoke tobacco. The association region contains several genes, including three that encode nicotinic acetylcholine receptor subunits (CHRNA5, CHRNA3 and CHRNB4). Such subunits are expressed in neurons and other tissues, in particular alveolar epithelial cells, pulmonary neuroendocrine cells and lung cancer cell lines, and they bind to N'-nitrosonornicotine and potential lung carcinogens. A non-synonymous variant of CHRNA5 that induces an amino acid substitution (D398N) at a highly conserved site in the second intracellular loop of the protein is among the markers with the strongest disease associations. Our results provide compelling evidence of a locus at 15q25 predisposing to lung cancer, and reinforce interest in nicotinic acetylcholine receptors as potential disease candidates and chemopreventative targets.

To evaluate and compare the extent of LD in cattle, 1536 SNPs, mostly localized on BTA03, were detected in silico from available sequence data using two different methods and genotyped on samples from 14 distinct breeds originating from Europe and Africa. Only 696 SNPs could be validated, confirming the importance of trace-quality information for the in silico detection. Most of the validated SNPs were informative in several breeds and were used for a detailed description of their genetic structure and relationships. Results obtained were in agreement with previous studies performed on microsatellite markers and using larger samples. In addition, the majority of the validated SNPs could be mapped precisely, reaching an average density of one marker every 311 kb. This allowed us to analyze the extent of LD in the different breeds. Decrease of LD with physical distance across breeds revealed footprints of ancestral LD at short distances (<10 kb). As suggested by the haplotype block structure, these ancestral blocks are organized, within a breed, into larger blocks of a few hundred kilobases. In practice, such a structure similar to that already reported in dogs makes it possible to develop a chip of <300,000 SNPs, which should be efficient for mapping purposes in most cattle breeds.

Linkage studies have mapped loci for diabetic nephropathy and associated phenotypes on chromosome 3q. We studied 14 plausible candidate genes in the linkage region because of their potential role in vascular complications. In a large-scale study of patients from Denmark, Finland, and France who have type 1 diabetes, 1,057 case and 1,127 control subjects, as well as 532 trios, were investigated for association with diabetic nephropathy. We analyzed 69 haplotype-tagging single nucleotide polymorphisms and nonsynonymous variants that were identified by sequencing. Polymorphisms in three genes, glucose transporter 2 (SLC2A2), kininogen (KNG1), and adiponectin (ADIPOQ), showed nominal association with diabetic nephropathy in single-point analysis. The T-allele of SLC2A2&#95;16459CT was associated with a decreased risk of diabetic nephropathy (odds ratio 0.79 [95% CI 0.66-0.96], P = 0.016), whereas the T-allele of KNG&#95;7965CT and the A-allele of ADIPOQ&#95;prom2GA were associated with increased risk of nephropathy (1.17 [1.03-1.32], P = 0.016; 1.46 [1.11-1.93], P = 0.006, respectively). Analyses of the transmission disequilibrium test showed similar trends only for ADIPOQ&#95;prom2GA with the overtransmission of the A-allele to patients with diabetic nephropathy (1.52 [0.86-2.66], P = NS) and of the G-allele to patients without diabetic nephropathy (0.50 [0.27-0.92], P = 0.026). The overall significance for this variant (nominal P = 0.011) suggests that ADIPOQ might be involved in the development of diabetic nephropathy.

The aim of this study was to compare characteristic parameters of 4 diagnostic kits available in Poland-immunoenzymatic Rotazyme II and Enzygnost kits and latex kits Rotalex and Slidex. Studies were performed on 67 samples of feces of children treated because of diarrhea. The sensitivity, specificity, frequency of positive tests, false positives and false negatives and the accuracy of the tests under evaluation were determined. The results obtained were further verified using a reference test electrophoresis of RNA of rotavirus. The highest sensitivity was found for Enzygnost, Rotazyme II and Rotalex, 97%, 92% and 90%, respectively, and the lowest for Slidex- 79%, while the specificity was higher for latex kits than for immunoenzymatic kits. The accuracy of the results was highest for Rotalex kit (92%), next for Enzygnost kit (88%), Rotazyme (87%), and Slidex (84%). The significant correlation between OD value readings in spectrophotometer in Rotazyme II kit and the results of visual reading in latex test was found. All tested kits were found to be useful for diagnostic purposes. Rotalex kit due to the high accuracy of the results obtained, methodological simplicity, short time of testing and relatively low price could be a based test in hospital laboratories.