Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

Personality is influenced by genetic and environmental factors1 and associated with mental health. However, the underlying genetic determinants are largely unknown. We identified six genetic loci, including five novel loci2,3, significantly associated with personality traits in a meta-analysis of genome-wide association studies (N = 123,132–260,861). Of these genomewide significant loci, extraversion was associated with variants in WSCD2 and near PCDH15, and neuroticism with variants on chromosome 8p23.1 and in L3MBTL2. We performed a principal component analysis to extract major dimensions underlying genetic variations among five personality traits and six psychiatric disorders (N = 5,422–18,759). The first genetic dimension separated personality traits and psychiatric disorders, except that neuroticism and openness to experience were clustered with the disorders. High genetic correlations were found between extraversion and attention-deficit– hyperactivity disorder (ADHD) and between openness and schizophrenia and bipolar disorder. The second genetic dimension was closely aligned with extraversion–introversion and grouped neuroticism with internalizing psychopathology (e.g., depression or anxiety)

Inter-rater agreement of the Quality of Life-Alzheimer's Disease (QoL-AD) self-rating and proxy rating scale: secondary analysis of RightTimePlaceCare data

Background: To assess the quality of life of people with dementia, measures are required for self-rating by the person with dementia, and for proxy rating by others. The Quality of Life in Alzheimer's Disease scale (QoL-AD) is available in two versions, QoL-AD-SR (self-rating) and QoL-AD-PR (proxy rating). The aim of our study was to analyse the inter-rater agreement between self-and proxy ratings, in terms of both the total score and the items, including an analysis specific to care setting, and to identify factors associated with this agreement.Methods: Cross-sectional QoL-AD data from the 7th Framework European RightTimePlaceCare study were analysed. A total of 1330 cases were included: n = 854 receiving home care and n = 476 receiving institutional long-term nursing care. The proxy raters were informal carers (home care) and best-informed professional carers (institutional long-term nursing care). Inter-rater agreement was investigated using Bland-Altman plots for the QoL-AD total score and by weighted kappa statistics for single items. Associations were investigated by regression analysis.Results: The overall QoL-AD assessment of those with dementia revealed a mean value of 33.2 points, and the proxy ratings revealed a mean value of 29.8 points. The Bland-Altman plots revealed a poor agreement between self-and proxy ratings for the overall sample and for both care settings. With one exception (item 'Marriage' weighted kappa 0.26), the weighted kappa values for the single QoL-AD items were below 0.20, indicating poor agreement. Home care setting, dementia-related behavioural and psychological symptoms, and the functional status of the person with dementia, along with the caregiver burden, were associated with the level of agreement. Only the home care setting was associated with an increase larger than the predefined acceptable difference between self-and proxy ratings.Conclusions: Proxy quality of life ratings from professional and informal carers appear to be lower than the self-ratings of those with dementia. QoL-AD-SR and QoL-AD-PR are therefore not interchangeable, as the inter-rater agreement differs distinctly. Thus, a proxy rating should be judged as a complementary perspective for a self-assessment of quality of life by those with dementia, rather than as a valid substitute

Colouration in amphibians as a reflection of nutritional status : the case of tree frogs in Costa Rica

Colouration has been considered a cue for mating success in many species; ornaments in males often are related to carotenoid mobilization towards feathers and/or skin and can signal general health and nutrition status. However, there are several factors that can also link with status, such as physiological blood parameters and body condition, but there is not substantial evidence which supports the existence of these relationships and interactions in anurans. This study evaluated how body score and blood values interact with colouration in free-range Agalychnis callidryas and Agalychnis annae males. We found significant associations between body condition and plasmatic proteins and haematocrit, as well as between body condition and colour values from the chromaticity diagram. We also demonstrated that there is a significant relation between the glucose and plasmatic protein values that were reflected in the ventral colours of the animals, and haematocrit inversely affected most of those colour values. Significant differences were found between species as well as between populations of A. callidryas, suggesting that despite colour variation, there are also biochemical differences within animals from the same species located in different regions. These data provide information on underlying factors for colouration of male tree frogs in nature, provide insights about the dynamics of several nutrients in the amphibian model and how this could affect the reproductive output of the animals

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma

Safeguarding Female Reproductive Health against Endocrine Disrupting Chemicals : The FREIA Project

Funding: This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 825100.Peer reviewedPublisher PD

Mixed Infection with cagA Positive and cagA Negative Strains of Helicobacter pylori Lowers Disease Burden in The Gambia

BACKGROUND: The prevalence of Helicobacter pylori including strains with putatively virulent genotypes is high, whereas the H. pylori-associated disease burden is low, in Africa compared to developed countries. In this study, we investigated the prevalence of virulence-related H. pylori genotypes and their association with gastroduodenal diseases in The Gambia. METHODS AND FINDINGS: DNA extracted from biopsies and H. pylori cultures from 169 subjects with abdominal pain, dyspepsia or other gastroduodenal diseases were tested by PCR for H. pylori. The H. pylori positive samples were further tested for the cagA oncogene and vacA toxin gene. One hundred and twenty one subjects (71.6%) were H. pylori positive. The cagA gene and more toxigenic s1 and m1 alleles of the vacA gene were found in 61.2%, 76.9% and 45.5% respectively of Gambian patients harbouring H. pylori. There was a high prevalence of cagA positive strains in patients with overt gastric diseases than those with non-ulcerative dyspepsia (NUD) (p = 0.05); however, mixed infection by cagA positive and cagA negative strains was more common in patients with NUD compared to patients with gastric disease (24.5% versus 0%; p = 0.002). CONCLUSION: This study shows that the prevalence of H. pylori is high in dyspeptic patients in The Gambia and that many strains are of the putatively more virulent cagA+, vacAs1 and vacAm1 genotypes. This study has also shown significantly lower disease burden in Gambians infected with a mixture of cag-positive and cag-negative strains, relative to those containing only cag-positive or only cag-negative strains, which suggests that harbouring both cag-positive and cag-negative strains is protective

Novel image–novel location object recognition task sensitive to age-related cognitive decline in nondemented elderly

Traditional tests used in the clinic to identify dementia, such as the mini-mental state examination (MMSE), are useful to identify severe cognitive impairments but might be less sensitive to detect more subtle age-related cognitive changes. Previously, the novel image–novel location (NINL) object recognition test was shown to be sensitive to detect effects of apolipoprotein E4, a risk factor for developing age-related cognitive decline and Alzheimer’s disease, in nondemented elderly. In the present longitudinal study, performance on the MMSE and the NINL tests were compared over a 4-year period. Individual NINL scores over this period were highly correlated. In addition, while MMSE scores did not change over the 4-year period, NINL scores did. In a final testing session of a subset of the participants, NINL scores correlated with logical memory and word recall lists, cognitive tasks used to detect dementia in the clinic, as well as clinical dementia rating scales. These results support that the NINL might be a valuable tool to assess age-related cognitive decline

Modified Wisconsin Card Sorting Test (M-WCST): Normative data for Spanish-speaking pediatric population

OBJECTIVE: To generate normative data for the Modified Wisconsin Card Sorting Test (M-WCST) in Spanish-speaking pediatric populations. METHOD: The sample consisted of 4,373 healthy children from nine countries in Latin America (Chile, Cuba, Ecuador, Guatemala, Honduras, Mexico, Paraguay, Peru, and Puerto Rico) and Spain. Each participant was administered the M-WCST as part of a larger neuropsychological battery. Number of categories, perseverative errors, and total error scores were normed using multiple linear regressions and standard deviations of residual values. Age, age2, sex, and mean level of parental education (MLPE) were included as predictors in the analyses. RESULTS: The final multiple linear regression models indicated main effects for age on all scores, such that the number of categories correct increased and total number of perseverative errors and total number of errors decrease linearly as a function of age. Age2 had a significant effect in Chile, Cuba, Ecuador, and Spain for numbers of categories; a significant effect for number of perseverative errors in Chile, Cuba, Mexico, and Spain; and a significant effect for number of total errors in Chile, Cuba, Peru, and Spain. Models showed an effect for MLPE in Cuba (total errors), Ecuador (categories and total errors), Mexico (all scores), Paraguay (perseverative errors and total error), and Spain (categories and total errors). Sex affected number of total errors for Ecuador. CONCLUSIONS: This is the largest Spanish-speaking pediatric normative study in the world, and it will allow neuropsychologists from these countries to have a more accurate way to interpret the M-WCST with pediatric populations

Nutritional profile and obesity: results from a random‑sample population‑based study in Córdoba, Argentina

Introduction Obesity is a chronic, heterogeneous, multifactorial disease, which has sharply increased in prevalence in both developed and developing countries. This study aimed to estimate the prevalence of obesity and to identify socio-demographic risk factors associated with it, with special emphasis on diet. Methods Nutritional status, demographic characteristics, lifestyle habits, and food consumption patterns derived from a Food Frequency Questionnaire were investigated. Exhaustive exploratory analyses were performed in order to describe dietary patterns, and logistic regression models were used for odds ratio estimation. Results The study included 4328 subjects, over 18 years old and resident in Cordoba city. The prevalence of overweight and obesity was 34 and 17 %, respectively, with 60 % in men and 45 % in women of BMI ≥ 25. Obesity risk factors were high intake of sodium, refined grains, starchy vegetables, and snacks. A lower risk of overweight and obesity was associated with an adequate, moderate intake of meats, eggs, alcoholic beverages, sugar and sweets, milk, yogurt, and pulses. Conclusions A high intake of snacks, refined grains, starchy vegetables and sodium and low intake of yogurt, milk, pulses, and whole grains seem to be associated with the emergence and high prevalence of obesity in Cordoba, Argentina.publishedVersionFil: Aballay, Laura Rosana. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Escuela de Nutrición. Estadística y Bioestadística; ArgentinaFil: Aballay, Laura Rosana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ciencias de la Salud; Argentina.Fil: De la Quintana, Ana Gabriela. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Escuela de Nutrición; Argentina.Fil: Díaz, María del Pilar. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Escuela de Nutrición. Estadística y Bioestadística; Argentina.Fil: Díaz, María del Pilar. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ciencias de la Salud; Argentina.Fil: Osella, Alberto R. Hospital Saverio de Bellis. Laboratorio de Epidemiologia y Bioestadística; Italia

Simulated Evolution of Protein-Protein Interaction Networks with Realistic Topology

We model the evolution of eukaryotic protein-protein interaction (PPI) networks. In our model, PPI networks evolve by two known biological mechanisms: (1) Gene duplication, which is followed by rapid diversification of duplicate interactions. (2) Neofunctionalization, in which a mutation leads to a new interaction with some other protein. Since many interactions are due to simple surface compatibility, we hypothesize there is an increased likelihood of interacting with other proteins in the target protein’s neighborhood. We find good agreement of the model on 10 different network properties compared to high-confidence experimental PPI networks in yeast, fruit flies, and humans. Key findings are: (1) PPI networks evolve modular structures, with no need to invoke particular selection pressures. (2) Proteins in cells have on average about 6 degrees of separation, similar to some social networks, such as human-communication and actor networks. (3) Unlike social networks, which have a shrinking diameter (degree of maximum separation) over time, PPI networks are predicted to grow in diameter. (4) The model indicates that evolutionarily old proteins should have higher connectivities and be more centrally embedded in their networks. This suggests a way in which present-day proteomics data could provide insights into biological evolution