Novel genetic loci associated with hippocampal volume

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

ATLANTIC-PRIMATES: a dataset of communities and occurrences of primates in the Atlantic Forests of South America

Primates play an important role in ecosystem functioning and offer critical insights into human evolution, biology, behavior, and emerging infectious diseases. There are 26 primate species in the Atlantic Forests of South America, 19 of them endemic. We compiled a dataset of 5,472 georeferenced locations of 26 native and 1 introduced primate species, as hybrids in the genera Callithrix and Alouatta. The dataset includes 700 primate communities, 8,121 single species occurrences and 714 estimates of primate population sizes, covering most natural forest types of the tropical and subtropical Atlantic Forest of Brazil, Paraguay and Argentina and some other biomes. On average, primate communities of the Atlantic Forest harbor 2 ± 1 species (range = 1–6). However, about 40% of primate communities contain only one species. Alouatta guariba (N = 2,188 records) and Sapajus nigritus (N = 1,127) were the species with the most records. Callicebus barbarabrownae (N = 35), Leontopithecus caissara (N = 38), and Sapajus libidinosus (N = 41) were the species with the least records. Recorded primate densities varied from 0.004 individuals/km 2 (Alouatta guariba at Fragmento do Bugre, Paraná, Brazil) to 400 individuals/km 2 (Alouatta caraya in Santiago, Rio Grande do Sul, Brazil). Our dataset reflects disparity between the numerous primate census conducted in the Atlantic Forest, in contrast to the scarcity of estimates of population sizes and densities. With these data, researchers can develop different macroecological and regional level studies, focusing on communities, populations, species co-occurrence and distribution patterns. Moreover, the data can also be used to assess the consequences of fragmentation, defaunation, and disease outbreaks on different ecological processes, such as trophic cascades, species invasion or extinction, and community dynamics. There are no copyright restrictions. Please cite this Data Paper when the data are used in publications. We also request that researchers and teachers inform us of how they are using the data. © 2018 by the The Authors. Ecology © 2018 The Ecological Society of Americ

Bestimmung der Galaktose-1-phosphat-Uridylyltransferase-Aktivität im Erythrocytenhämolysat von Patienten mit Down-Syndrom

Peer Reviewe

Development and validation of hydroacoustic monitoring concepts for the coastal German Bight (SE North Sea)

The joint research project WIMO (Wissenschaftliche Monitoringkonzepte für die Deutsche Bucht/Scientific Monitoring Concepts for the German Bight, NE North Sea) aims at providing methods for detection and analysis of seabed habitats using modern remote sensing techniques. Our subproject focuses on hydroacoustic techniques in order to gain information about seafloor environments and sediment dynamics. In a timeframe of four years, several key areas in the German Bight were repeatedly observed using different hydroacoustic gear (i. e. sidescan sonars, single/multibeam echo sounders and sub-bottom profilers). In order to ground-truth the acoustic data, hundreds of grab samples and underwater videos were taken. With these techniques it is possible to distinguish between different seafloor habitats, which range from muddy to sandy seafloors (esp. near the barrier islands) to rugged or vegetated/populated reefs around Helgoland. The conducted monitoring program revealed seasonal changes regarding the abundance of the sand mason worm (Lanice conchilega) and the brittle star (Amphiora filiformis) as well as ongoing sedimentary processes driven by tidal currents and wind/storms. It was also possible to determine relationships between sediment characteristics and benthos in some key areas. An essential part of our project included a comparison between the datasets obtained with different hydroacoustic devices, configurations, and evaluation methods in the same study areas. The investigation reveals that there could be distinct differences in interpreting the data and hence in the determination of prevailing seafloor habitats, especially in very heterogeneous areas and at transition zones between the habitats. Therefore, it is recommended to employ more than one hydroacoustic system (preferably a singlebeam device combined with a wide-swath sonar system) synchronously during a survey in order to gain more reliable and detailed information about the seafloor environments. The results of this project study form an important contribution to ongoing and future projects, in particular with regard to the technical configuration of the sonar systems, the workflows concerning post-processing and validation of the hydroacoustic data as well as the monitoring concepts that were worked out. However, a full automation of these workflows is not feasible. For the time being, measurements, post-processing and data evaluation still need supervision and expert knowledge

Rejection behaviour of horses for hay contaminated with meadow saffron (Colchicum autumnale L.)

Background Extensively used grasslands are frequently utilised for hay production for equines. Especially, extensive meadows have a great variety of plant species, which may include plants that are poisonous for equines such as meadow saffron (Colchicum autumnale L.). To authors’ knowledge investigations about horses` avoidance behaviour towards dried meadow saffron in hay are missing. Reports of farmers are contrary to clinical symptoms described in case reports and associated with meadow saffron in hay. Objectives The aim of this study was to determine the rejection behaviour of horses for hay contaminated with meadow saffron (MS) when fed ad libitum. Study design An 18-day feeding trial with six adult geldings to observe the rejection behaviour for hay contaminated with MS. Methods The horses were fed a basal diet containing hay ad libitum and a mineral supplement during the feeding trial. At six different daytimes, hay contaminated with 1% or 2% dried MS was provided to the horses over a duration of 1 h. The rejection behaviour was observed personally and by video recordings. If a horse ingested more than two plants of MS during one observation period, the observation was stopped and repeated at another day. When the observation period had to be stopped twice, the horse was excluded from the experiment. Results Five of six horses ingested MS during the first feeding periods. One horse rejected leaves and capsules at the beginning of the study, but it showed repeated ingestion of MS after the seventh observation period. Main limitations Lack of knowledge about secondary plant metabolites affecting taste and their variability between fresh and dried plants. Conclusions The intake of MS in hay by horses could not be ruled out with certainty. Therefore, feeding hay contaminated with MS should be avoided for equids