Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

Age at first birth in women is genetically associated with increased risk of schizophrenia

Prof. Paunio on PGC:n jäsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

Search for gravitational waves from Scorpius X-1 in the second Advanced LIGO observing run with an improved hidden Markov model

We present results from a semicoherent search for continuous gravitational waves from the low-mass x-ray binary Scorpius X-1, using a hidden Markov model (HMM) to track spin wandering. This search improves on previous HMM-based searches of LIGO data by using an improved frequency domain matched filter, the J-statistic, and by analyzing data from Advanced LIGO's second observing run. In the frequency range searched, from 60 to 650 Hz, we find no evidence of gravitational radiation. At 194.6 Hz, the most sensitive search frequency, we report an upper limit on gravitational wave strain (at 95% confidence) of h095%=3.47×10-25 when marginalizing over source inclination angle. This is the most sensitive search for Scorpius X-1, to date, that is specifically designed to be robust in the presence of spin wandering. © 2019 American Physical Society

Pteridófitas da Serra Negra, Minas Gerais, Brasil

Este trabalho apresenta uma lista de espécies de pteridófitas que ocorrem na Serra Negra, Minas Gerais. A serra está inserida no complexo da Serra da Mantiqueira situada entre Rio Preto, Lima Duarte, Santa Bárbara do Monte Verde e Olaria, tendo seus limites nos pontos 21º58'11"S 43º53'21" W, 22º01'46,4" S 43º52'31,5" W, 21º58'21,4" S 43º50'06,5" W e 21º58'53" S 43º56'08" W. A vegetação da serra é formada por um mosaico de fitofisionomias, sendo encontradas formações florestais (florestas ombrófilas e semidecíduas) e campestres (campos rupestres). O inventário florístico foi realizado entre os anos de 2003 e 2008, em excursões mensais para coleta de amostras e registro de dados. Na serra foram registradas 209 táxons infragenéricos distribuídas em 24 famílias e 75 gêneros. As famílias com maior número de espécies foram Polypodiaceae (40), Dryopteridaceae (33) e Pteridaceae (25). A maioria das espécies (109) foi encontrada ocorrendo exclusivamente no interior de floresta. Em relação ao hábito, 69 espécies foram encontradas exclusivamente como terrestres, 37 como rupícolas ou terrestres e 32 exclusivamente epífitas. Este trabalho revela uma elevada riqueza de pteridófitas na região e indica a importância de estudos desta natureza na conservação e manejo das pteridófitas em Minas Gerais.This work presents an inventory of pteridophyte species that occur in the Serra Negra, of Minas Gerais. The area is part of the Mantiqueira Range, and is situated between the coordinates 21º58'11"S 43º53'21" W, 22º01'4.4" S, 43º52'31.5" W, 21º58'21.4" S, 43º50'06.5" W and 21º58'53" S, 43º56'08" W. The vegetation in the Serra Negra is characterized by a mosaic of different phytophysiognomies, divided into forests (evergreen and seasonal semideciduous forests) and open formations (rocky grasslands). The inventory was carried out from 2003 to 2008, during monthly excursions to collect botanical material and data in the study area. A total of 209 species, distributed in 24 families and 75 genera, were recorded. The families with the highest number of species were Polypodiaceae (40), Dryopteridaceae (33) and Pteridaceae (25). More than the half (110) of the inventoried species were recorded exclusively in the forests formations. Sixty-nine species were terrestrial, 37 were saxicolous or terrestrial and 32 were epiphytes. This work shows that this region is rich in ferns and reveals the importance of this kind of study for conservation and management of pteridophytes in the state of Minas Gerais

The Marine Microbial Eukaryote Transcriptome Sequencing Project (MMETSP): Illuminating the Functional Diversity of Eukaryotic Life in the Oceans through Transcriptome Sequencing

Microbial ecology is plagued by problems of an abstract nature. Cell sizes are so small and population sizes so large that both are virtually incomprehensible. Niches are so far from our everyday experience as to make their very definition elusive. Organisms that may be abundant and critical to our survival are little understood, seldom described and/or cultured, and sometimes yet to be even seen. One way to confront these problems is to use data of an even more abstract nature: molecular sequence data. Massive environmental nucleic acid sequencing, such as metagenomics or metatranscriptomics, promises functional analysis of microbial communities as a whole, without prior knowledge of which organisms are in the environment or exactly how they are interacting. But sequence-based ecological studies nearly always use a comparative approach, and that requires relevant reference sequences, which are an extremely limited resource when it comes to microbial eukaryotes

Survey of condom-related beliefs, behaviors, and perceived social norms in Mexican migrant laborers

This study reports findings from a survey of condom-related beliefs, behaviors, and perceived social norms in Mexican migrant laborers that live and work in the United States for extended periods of time. Snowball sampling was used to recruit 501 Mexican migrants from five 'sending towns' in Jalisco, Mexico, with historically high rates of out-migration to the United States. Results showed that subjects reported few negative beliefs about condom use and high efficacy to use condoms in challenging sexual situations but social norms sanctioning condoms were limited. Results also revealed mixed knowledge of HIV transmission, poor knowledge of condom use, and higher condom use with occasional versus regular sex partners. Forty-four percent of male migrants reported sex with prostitutes while in the U.S., with married men reporting less condoms use with prostitutes than single men. It was concluded that condom promotion efforts with Mexican migrants should concentrate on men to encourage consistent use with occasional sex partners, including prostitutes. AIDS prevention education should be provided with sensitivity to the language needs, limited education, and extreme social and geographic marginality of this highly underresearched Latino population