Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.

BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify familial and sex-differential risk loci in the largest available, uniformly ascertained, densely genotyped sample of multiplex ASD families from the Autism Genetics Resource Exchange (AGRE), and to compare results with earlier findings from AGRE.MethodsFrom a total sample of 1,008 multiplex families, we performed genome-wide, non-parametric linkage analysis in a discovery sample of 847 families, and separately on subsets of families with only male, affected children (male-only, MO) or with at least one female, affected child (female-containing, FC). Loci showing evidence for suggestive linkage (logarithm of odds ≥2.2) in this discovery sample, or in previous AGRE samples, were re-evaluated in an extension study utilizing all 1,008 available families. For regions with genome-wide significant linkage signal in the discovery stage, those families not included in the corresponding discovery sample were then evaluated for independent replication of linkage. Association testing of common single nucleotide polymorphisms (SNPs) was also performed within suggestive linkage regions.ResultsWe observed an independent replication of previously observed linkage at chromosome 20p13 (P < 0.01), while loci at 6q27 and 8q13.2 showed suggestive linkage in our extended sample. Suggestive sex-differential linkage was observed at 1p31.3 (MO), 8p21.2 (FC), and 8p12 (FC) in our discovery sample, and the MO signal at 1p31.3 was supported in our expanded sample. No sex-differential signals met replication criteria, and no common SNPs were significantly associated with ASD within any identified linkage regions.ConclusionsWith few exceptions, analyses of subsets of families from the AGRE cohort identify different risk loci, consistent with extreme locus heterogeneity in ASD. Large samples appear to yield more consistent results, and sex-stratified analyses facilitate the identification of sex-differential risk loci, suggesting that linkage analyses in large cohorts are useful for identifying heritable risk loci. Additional work, such as targeted re-sequencing, is needed to identify the specific variants within these loci that are responsible for increasing ASD risk

Comparison between Poaceae Airborne Pollen Counts and Phl p5 Aeroallergen Quantification in South Europe

The European project HIALINE: Comparison between Poaceae Airborne Pollen Counts and Phl p5 Aeroallergen Quantification in South Europe C. Antunes1,2, R. Ferro2, R. Ribeiro2, Torres M.C.4, M.J. Velasco4H. García-Mozo4, Galán, C4 , R.Brandao1,3, M.Thibaudon5, R. Albertini6 Ugolotti. M.6, Usberti I.6, Dall’Aglio P.6 and the HIALINE team7 1DInstitute of Mediterranean Agricultural and Environmental Sciences –ICAAM, University of Évora, Portugal 2Department of Chemistry, University of Évora, Portugal 3Department of Biology, University of Évora, Portugal 4Department of Botany, Ecology and Plant Physiology, University of Córdoba 5Réseau National de l Surveillance Aerobiologique, Saint-Genis-l’Argentière, France 6Department of Clinical Medicine, Nephrology and Health Sciences, University of Parma, Italy 7J.T.M. Buters, Germany, M. Thibaudon, France, M. Smith, Great Britain, C. Galan, Spain, R. Brandao and C.M. Antunes, Portugal, G. Reese, Germany, R. Albertini, Italy, L. Grewling, Poland, A. Rantio-Lehtimäki, Finland, S. Jäger and U. Berger, Austria, I. Sauliene, Lithuania, L. Cecchi, Italy Introduction: Nowadays, pollinosis is affecting a large percentage of population in countries with a western life style. The existence of allergenic activity in the atmosphere is not only associated to pollen grains and fungal spores, but also to submicronic and paucimicronic biological particles. The origin of these allergens can be due to the rupture of pollen transported in the atmosphere or to the presence of allergens from other parts of the plant making amorphous material with an allergen load. Poaceae pollen is recognized as one of the main causes of allergic disease in all Europe. In this study we have tried to compare Poaceae pollen counts in the air and Phl p 5, one of the major allergens of this family, through the use of a high-volume cascade impactor (Chemvol). This study was done in the frame of the European project HIALINE and it compares the results obtained in 2009 by 4 different partners participating in this project: in Córdoba (Spain), Évora (Portugal), Lyon (France) and Parma (Italy). Methodology: Pollen grains were sampled using a 7-day volumetric Hirst type spore trap. Chemvol high-volume cascade impactor equipped with stages PM>10µm, 10 µm>PM>2.5µm was used for detecting aeroallergens. In each stage polyurethane filters were use as an impacting substrate. Phl p 5 allergen was determined using an allergen specific ELISA. Antibodies for analysis were delivered by Allergopharma Joachim Ganzer KG, the industrial partner in this project. At each location both samplers were placed side-by-side. Results: Most of the allergen was collected in the PM>10µm fraction. Similar profiles between airborne pollen and the total allergenic load was observed during the pollen season. A good correlation was obtained between pollen count and allergen content of the air and a value of 2.5 pg/pollen grain of Poaceae was estimated. Discussion: This is the first year of this project. Nevertheless, results suggest that the allergenic load in outdoor air might be mainly due to pollen bursts. It supports the hypothesis that monitoring the allergens itself in ambient air might be an improvement in allergen exposure assessment. This work was supported in part by the European Agency for Health and Consumers EAHC, Luxembourg, under the grant agreement 2008110

Comparison between Airborne Pollen and Aeroallergen Quantification with the ChemVol Impact Sampler. Olive pollen vs Ole e 1

Comparison between Airborne Pollen and Aeroallergen Quantification with the ChemVol Impact Sampler. Olive pollen vs Ole e 1. Torres M.C.1, C. Antunes2, M.J. Velasco1, R. Ferro2, H. García-Mozo1, R. Ribeiro2, R.Brandao3, Galán, C1 and the HIALINE team4 1Department of Botany, Ecology and Plant Physiology, University of Córdoba 2Department of Chemistry, University of Évora, Portugal 3Department of Biology, University of Évora, Portugal 4J.T.M. Buters, Germany, M. Thibaudon, France, M. Smith, Great Britain, C. Galan, Spain, R. Brandao and C. Antunes, Portugal, G. Reese, Germany, R. Albertini, Italy, L. Grewling, Poland, A. Rantio-Lehtimäki, Finland, S. Jäger and U. Berger, Austria, I. Sauliene, Lithuania, L. Cecchi, Italy Nowadays, pollinosis is affecting a large percentage of population in the countries with a western life style. The existence of allergenic activity in the atmosphere is not only associated to pollen grains and fungal spores, but also to submicronic and paucimicronic biological particles. The origin of these allergens can be due to the rupture of pollen transported in the atmosphere or to the presence of allergens from other parts of the plant making amorphous material with an allergen load. Olive pollen is recognized as one of the main causes of allergic disease in the Mediterranean area. In this study we have tried to compare olive pollen count in the air and Ole e 1 as major allergen of this species, at two different localities in South of Europe: Evora (Portugal) and Córdoba (Spain). At each location both samplers were placed side-by-side. Pollen grains have been sampled using a volumetric Hirst type spore trap. Chemvol high-volume cascade impactor equipped with stages PM>10µm, 10 µm>PM>2.5µm were used for detecting aeroallergens. Ole e 1 major allergen was determined using allergen specific ELISA´s. Similar behaviour between pollen and the total allergenic load was observed during the pollen season. Nevertheless, at some occasions, during the previous and later period of the pollen season, airborne allergenic load was detected in South Spain, due to the contributions from other Oleaceae species. For this reason the use of these two different methodologies allow a better understanding of the allergenic load in the atmosphere. This work was supported in part by the European Agency for Health and Consumers EAHC, Luxembourg, under the grant agreement 20081107

Schizophrenia: Genome, Interrupted

Structural chromosomal variation is increasingly recognized as an important contributor to human diseases, particularly those of neurodevelopment, such as autism. A current paper makes a significant advance to schizophrenia genetics by establishing an association with rare copy number variants (CNV), which are over-represented in neurodevelopmental genes

The European project HIALINE: Comparison between Poaceae Airborne Pollen Counts and Phl p5 Aeroallergen Quantification in SW Europe

The European project HIALINE: Comparison between Poaceae Airborne Pollen Counts and Phl p5 Aeroallergen Quantification in SW Europe C. Antunes1*, R. Ferro1, R. Ribeiro1, Torres M.C.3, M.J. Velasco3H. García-Mozo3, Galán, C3 , R.Brandao2, M.Thibaudon4 and the HIALINE team5 1Department of Chemistry, University of Évora, Portugal 2Department of Biology, University of Évora, Portugal 3Department of Botany, Ecology and Plant Physiology, University of Córdoba 4Réseau National de l Surveillance Aerobiologique, Saint-Genis-l’Argentière, France 5J.Buters, Germanny, M. Thibaudon, France, M. Smith, Great Britain, C. Galan, Spain, R. Brandao and C.M. Antunes, Portugal, R. Albertini, Italy, L. Grewling, Poland, A. Rantio-Lehtimäki, Finland, S. Jäger and U. Berger, Austria, I. Sauliene, Lithuania, L. Cecchi, Italy * Presenting Author: Antunes, C. Department of Chemistry, University of Évora, Portugal. Phone +351 266745319 ; email: [email protected] Introduction: Nowadays, pollinosis is affecting in a large percentage of population in the developed countries. The existence of allergenic activity in the atmosphere is not only associated to pollen grains and fungal spores, but also to submicronic and paucimicronic biological particles. The origin of these allergens can be due to the rupture of pollen transported in the atmosphere or to the presence of allergens from other parts of the plant making amorphous material with allergenic load. Poaceae pollen is recognized as one of the main causes of allergic disease in all Europe. In this study we have tried to compare Poaceae pollen counts in the air and Phl p 5, one of the major allergens of this family, through the use of a high-volume cascade impactor (Chemvol). This study was done in the frame of the European project HIALINE and it compares the results obtained in 2009 by 3 different partners participating in this project: in Córdoba (Spain), Évora (Portugal) and Lyon (France). Methodology: Pollen grains have been taken out using a 7-day volumetric Hirst type spore trap. Chemvol high-volume cascade impactor equipped with stages PM>10µm, 10 µm>PM>2.5µm were used for detecting aeroallergens. In each stage polyurethane filters were applied. Phl p5 allergen was determined using allergen specific ELISA´s. Antibodies for analysis are delivered by Allergopharma Joachim Ganzer KG, the industrial partner in this project. Both samplers were placed side-by-side. Results: Most of the allergen was collected in the PM>10µm fraction. Similar profiles between airborne pollen and the total allergenic load was observed during the pollen season. A good correlation was obtained and a value of 2.5 pg/pollen grain of Poaceae was estimated. Discussion: These results suggest that the allergenic load in outdoor air might be mainly due to pollen bursts. It supports the hypothesis that monitoring the allergens itself in ambient air might be an improvement in allergen exposure assessment. This work was supported in part by the European Agency for Health and Consumers EAHC, Luxembourg, under the grant agreement 2008110

Pengaruh Pemberian Puding Kacang Merah (Vigna Angularis) Terhadap Kadar Glukosa Darah Puasa, Tekanan Darah, Dan Lingkar Pinggang Obesitas Hipertensi Non-hipertensi Pada Remaja Putri

Latar Belakang : Sindrom metabolik adalah kumpulan kelainan metabolik yang dikaitkan dengan peningkatan risiko penyakit kardiovaskular. Kacang merah merupakan bahan makanan sumber serat dan berindeks glikemik rendah. Arginin merupakan asam amino semiessential dalam kacang merah sebagai substrat untuk pembentukan NO dapat mengontrol tekanan darah dan memicu pelepasan insulin dari pankreas. Penelitian ini bertujuan untuk mengetahui pengaruh puding kacang merah (Vigna angularis) terhadap kadar glukosa darah puasa, tekanan darah dan lingkar pinggang obesitas hipertensi non-hipertensi pada remaja putriMetode : Jenis penelitian adalah pra-eksperimental (the one group pretest-posttest design). Subjek penelitian adalah siswi kelas X dan XI SMA Negeri 2 Semarang dengan IMT ≥ persentil ke-95 grafik persentil IMT untuk perempuan umur 2-20 tahun, kadar glukosa puasa ≥100 mg/dl, tekanan darah sistolik 120-130 mm Hg dan diastolik 80-89 mm Hg, lingkar pinggang ≥80 cm. Kelompok obesitas hipertensi dan obesitas non-hipertensi mendapat puding kacang merah sebanyak 50 gram/hari selama 14 hari. Metode enzymatic colorimetric digunakan untuk menganalisis kadar glukosa darah puasa setelah subjek berpuasa ± 10-12 jam. Tekanan darah diperiksa menggunakan Sphygmomanometer air raksa. Lingkar pinggang diukur menggunakan pita ukur/metlin. Uji normalitas menggunakan Shapiro Wilk. Analisis statistik menggunakan dependent t-test, Wilcoxon, independent t-test dan Mann Whitney.Hasil : Kelompok obesitas hipertensi tidak mengalami penurunan kadar GDP (p=0.210) dan tekanan darah sistolik (p=0.157). Kelompok obesitas non-hipertensi mengalami penurunan kadar GDP (p=0.021) sebesar 6.33 ± 4.67 mg/dl dan tekanan darah sistolik (p=0.046) sebesar 6.67 ± 5.16 mmHg. Kelompok obesitas hipertensi dan non-hipertensi tidak mengalami penurunan lingkar pinggang (p=0.165;p=0.073). Secara statistik, tidak terdapat perbedaan Perubahan kadar GDP (p=0.147), tekanan darah sistolik (p=0.096), tekanan darah diastolik (p=0.866) dan lingkar pinggang (p=0.924) antara kelompok obesitas hipertensi dan non-hipertensi.Kesimpulan :Ada pengaruh puding kacang merah terhadap kadar GDP dan tekanan darah sistolik pada kelompok obesitas non-hipertensi. Tidak ada pengaruh puding kacang merah terhadap kadar GDP dan tekanan darah sistolik pada kelompok obesitas hipertensi. Tidak ada pengaruh puding kacang merah terhadap tekanan darah diastolik dan lingkar pinggang pada kelompok obesitas hipertensi dan obesitas non-hipertensi. Tidak ada perbedaan kadar GDP, tekanan darah sistolik tekanan darah diastolik dan lingkar pinggang antara kelompok obesitas hipertensi dan kelompok obesitas non-hipertensi

Hubungan Antara Stress Dengan Perilaku Merokok Pada Pegawai Negeri Sipil Laki-laki

Stress is a condition that could be experienced by everybody, including civil employees. Stress in civil employees could be derived from work problems, household problems, and neighborhood problems. Stress is one of many reasons for some people to smoke. Based on the result of observation and informal interview to some civil employees in Regional Secretariat Office of Brebes District, there are 86% from 173 employees that smoke. The goal of this research is to know the relationship between stress and smoking behavior among civil employees. This research used non experimental quantitative method with purposive sampling technique. Chi Square was used to analyze the relationship between two variables, used α = 0,05. This research resulted that 107 respondents were in mild stress and 2 respondents were in moderate stress. There were 55 respondents that have active smoking behavior and 54 respondents that have passive smoking behavior. Based on the analyzed result, there are no significant relationship between stress and smoking behavior among civil employees (p value = 0,252). This research could be continued by next research using qualitative method in order to get more information about smoking behavior's factors, especially among adults

Online purchase determinants of loyalty: the mediating effect of satisfaction in tourism

The purpose of this research is to investigate the impact of four online purchase determinants (website image, routine, website knowledge and innovativeness) on customer loyalty and the mediating effect of customer satisfaction within the context of e-commerce. The research model is tested using data collected from 3188 regular buyers of the national leader in the sector being studied. The statistical analyses were conducted within the Structural Equation Modeling framework. Results show that there is a complete mediating effect of e-customer satisfaction in the relationship between three online purchase determinants (website image, online routine and website knowledge) and e-customer loyalty. The research results provide an important insight into how e-companies can pursuit and use delight to highlight customers' loyalty. These results allow for a better understanding of customer specificities, with practical actions aimed at their real needs and expectations.info:eu-repo/semantics/acceptedVersio