Estat d'ànim sota la crisi / Estado de ánimo bajo la crisis

Viure és una cosa més aviat hostil, un eludir constantment dificultats i de tant en tant, alguna satisfacció vital.

Lack of support for the association between facial shape and aggression: a reappraisal based on a worldwide population genetics perspective

Antisocial and criminal behaviors are multifactorial traits whose interpretation relies on multiple disciplines. Since these interpretations may have social, moral and legal implications, a constant review of the evidence is necessary before any scientific claim is considered as truth. A recent study proposed that men with wider faces relative to facial height (fWHR) are more likely to develop unethical behaviour mediated by a psychological sense of power. This research was based on reports suggesting that sexual dimorphism and selection would be responsible for a correlation between fWHR and aggression. Here we show that 4,960 individuals from 94 modern human populations belonging to a vast array of genetic and cultural contexts do not display significant amounts of fWHR sexual dimorphism. Further analyses using populations with associated ethnographical records as well as samples of male prisoners of the Mexico City Federal Penitentiary condemned by crimes of variable level of inter-personal aggression (homicide, robbery, and minor faults) did not show significant evidence, suggesting that populations/individuals with higher levels of bellicosity, aggressive behaviour, or power-mediated behaviour display greater fWHR. Finally, a regression analysis of fWHR on individual"s fitness showed no significant correlation between this facial trait and reproductive success. Overall, our results suggest that facial attributes are poor predictors of aggressive behaviour, or at least, that sexual selection was weak enough to leave a signal on patterns of between- and within-sex and population facial variation.

Qui controla el comportament sexual?

Investigadors dels EUA i del Japó relacionen l'efecte d'alguns gens amb determinats comportaments sexuals de mascles i femelles

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Purpose: Wolfram syndrome is a degenerative, recessive rare disease with an onset in childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different variations in WFS1 have been described in patients with Wolfram syndrome, which complicates the establishment of clear genotype-phenotype correlation. The purpose of this study was to elucidate the role of WFS1 mutations and update the natural history of the disease. Methods: This study analyzed clinical and genetic data of 412 patients with Wolfram syndrome published in the last 15 years. Results: (i) 15% of published patients do not fulfill the current ­inclusion criterion; (ii) genotypic prevalence differences may exist among countries; (iii) diabetes mellitus and optic atrophy might not be the first two clinical features in some patients; (iv) mutations are nonuniformly distributed in WFS1; (v) age at onset of diabetes mellitus, hearing defects, and diabetes insipidus may depend on the patient"s genotypic class; and (vi) disease progression rate might depend on genotypic class. Conclusion: New genotype-phenotype correlations were established, disease progression rate for the general population and for the genotypic classes has been calculated, and new diagnostic criteria have been proposed. The conclusions raised could be important for patient management and counseling as well as for the development of treatments for Wolfram syndrome.

Metamorfosi dels líders

Les persones som una espècie grupal. Tots ens sentim integrats en un o més grups-nacional, professional, cultural, lingüístic, etc. Hi ha persones a qui, a més, també els agrada exercir el poder dins el seu grup, ser-ne líders. El lideratge, però, no és assequible a tothom; fa falta un temperament especial.

Genetic origin of the relationship between parental negativity and behavior problems from early childhood to adolescence: A longitudinal genetically sensitive study.

Little is known about how genetic and environmental factors contribute to the association between parental negativity and behavior problems from early childhood to adolescence. The current study fitted a cross-lagged model in a sample consisting of 4,075 twin pairs to explore (a) the role of genetic and environmental factors in the relationship between parental negativity and behavior problems from age 4 to age 12, (b) whether parent-driven and child-driven processes independently explain the association, and (c) whether there are sex differences in this relationship. Both phenotypes showed substantial genetic influence at both ages. The concurrent overlap between them was mainly accounted for by genetic factors. Causal pathways representing stability of the phenotypes and parent-driven and child-driven effects significantly and independently account for the association. Significant but slight differences were found between males and females for parent-driven effects. These results were highly similar when general cognitive ability was added as a covariate. In summary, the longitudinal association between parental negativity and behavior problems seems to be bidirectional and mainly accounted for by genetic factors. Furthermore, child-driven effects were mainly genetically mediated, and parent-driven effects were a function of both genetic and shared-environmental factors.

Cinc gens claus permeten conèixer la forma de la cara

Un estudi liderat per la Universitat de Rotterdam ha aconseguit adjudicar variants gèniques concretes a les principals característiques facials dels europeus

La nostra vida diària també marca els gens

L'epigenoma són totes les modificacions que els nostres gens reben de l'entorn. Són reversibles però també tenen un important paper en el desenvolupament de moltes malalties

Triem els amics

Les persones tenim tendència a establir amistats amb persones que tenen unes mateixes variants gènetiques.

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD

Background It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium around genes, particularly in isolated populations where it is assumed to be higher. Here, we explore both the amount and the decay of linkage disequilibrium with physical distance along 211 gene regions, most of them related to complex diseases, across 39 HGDP-CEPH population samples, focusing particularly on the populations defined as isolates. Within each gene region and population we use r2 between all possible single nucleotide polymorphism (SNP) pairs as a measure of linkage disequilibrium and focus on the proportion of SNP pairs with r2 greater than 0.8. Results Although the average r2 was found to be significantly different both between and within continental regions, a much higher proportion of r2 variance could be attributed to differences between continental regions (2.8% vs. 0.5%, respectively). Similarly, while the proportion of SNP pairs with r2 > 0.8 was significantly different across continents for all distance classes, it was generally much more homogenous within continents, except in the case of Africa and the Americas. The only isolated populations with consistently higher LD in all distance classes with respect to their continent are the Kalash (Central South Asia) and the Surui (America). Moreover, isolated populations showed only slightly higher proportions of SNP pairs with r2 > 0.8 per gene region than non-isolated populations in the same continent. Thus, the number of SNPs in isolated populations that need to be genotyped may be only slightly less than in non-isolates. Conclusion The 'isolated population' label by itself does not guarantee a greater genotyping efficiency in association studies, and properties other than increased linkage disequilibrium may make these populations interesting in genetic epidemiology.

Polygenic determinants of white matter volume derived from GWAS lack reproducibility in a replicate sample

A recent publication reported an exciting polygenic effect of schizophrenia (SCZ) risk variants, identified by a large genome-wide association study (GWAS), on total brain and white matter volumes in schizophrenic patients and, even more prominently, in healthy subjects. The aim of the present work was to replicate and then potentially extend these findings. According to the original publication, polygenic risk scores using single nucleotide polymorphism (SNP) information of SCZ GWAS (polygenic SCZ risk scores; PSS) were calculated in 122 healthy subjects, enrolled in a structural magnetic resonance imaging (MRI) study. These scores were computed based on P-values and odds ratios available through the Psychiatric GWAS Consortium. In addition, polygenic white matter scores (PWM) were calculated, using the respective SNP subset in the original publication. None of the polygenic scores, either PSS or PWM, were found to be associated with total brain, white matter or gray matter volume in our replicate sample. Minor differences between the original and the present study that might have contributed to lack of reproducibility (but unlikely explain it fully), are number of subjects, ethnicity, age distribution, array technology, SNP imputation quality and MRI scanner type. In contrast to the original publication, our results do not reveal the slightest signal of association of the described sets of GWAS-identified SCZ risk variants with brain volumes in adults. Caution is indicated in interpreting studies building on polygenic risk scores without replication sample.

Enhancing cognition before clinical symptoms of dementia.

As the title of the special issue indicates, controversy surrounds augmentation of brain cognition in humans. Lacking efficacious drugs for Alzheimer's disease (AD) and with many AD patients recruited for clinical trials that unfortunately do not provide the expected results, one wonders whether to test cognition enhancement strategies in individuals without symptoms of cognition decline. This opinion article presents the view that safe drugs and or dietary supplements should be tested worldwide in aged individuals under the control of a non-for-profit organization.

Apologia de l'optimisme

L'optimisme és una característica humana que presenta diversos graus de manifestació, en funció de cada persona concreta, i que es veu influenciada per la seva situació personal i per l'ambient social. També té una arrel biològica que, com justificaré, té una certa relació amb la capacitat creativa i la llibertat, la qual cosa genera reflexions interessants. Com qualsevol característica mental és conseqüència del funcionament del cervell i hi ha gens que hi influeixen, com per exemple un transportador de la serotonina i un receptor de la dopamina, dos neurotransmissors amb múltiples funcions. Curiosament, aquests gens, junt amb altres gens coneguts, intervenen en la nostra capacitat creativa [...].

Impulsivitat i llàgrimes

D'adolescent tenia un amic amb inquietuds musicals que s'emocionava especialment amb la pel·lícula Somriures i llàgrimes (The Sound of Music, de Robert Wise), una amistat esquinçada per un rampell impulsiu causat per una acumulació de desavinences. Feia temps que no hi pensava, malgrat que mai l'he oblidat, però un parell de treballs recents me l'han fet recordar. Un refrany ens adverteix que cal pensar abans d'actuar. Si actuem impulsivament ens arrisquem a patir patacades imprevistes. Però també és cert que si triguem massa a actuar podem perdre oportunitats irrepetibles, o rebre altres patacades. Això implica que, pel que fa al cervell, sigui necessari un control molt fi de la impulsivitat [...].

Gens, paraules i l'origen dels europeus

Les paraules, com els gens, proporcionen pistes molt importants sobre la història de la humanitat. Una de les poblacions més analitzades des del punt de vista genètic i lingüístic és l'europea. La utilització de tècniques d'anàlisi genètica en la qüestió de l'origen de les llengües indoeuropees ha proporcionat resultats molt semblants als obtinguts en estudiar l'origen genètic d'aquesta població [...].