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Analyses of expression profiles from whole blood of 31,684 individuals identify cis-expression quantitative trait loci (eQTL) effects for 88% of genes and trans-eQTL effects for 37% of trait-associated variants.

Immune checkpoint inhibitors (CPI) could effectively target cancers that are resistant to traditional therapy but may initiate immune related adverse effects, such as colitis. Here, authors characterise the gut immune microenvironment during CPI-colitis by bulk RNA sequencing, single-cell RNA sequencing and flow cytometry, and find that interleukin 23 plays an important role in promoting inflammation via cytotoxic polyfunctional IFNγ-producing lymphocytes.

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.

Unlike most inflammatory fibrotic conditions, frozen shoulder is a spontaneously self-resolving human disease. Here authors study samples from frozen shoulder capsules by single cell RNA sequencing and by microculture modelling of cell-cell interactions to conclude that specific macrophage populations and their interaction with fibroblasts might promote fibrosis resolution.

The medium-resolution transmission spectrum of the exoplanet WASP-39b, described using observations from the Near Infrared Spectrograph G395H grating aboard JWST, shows significant absorption from CO₂ and H₂O and detection of SO₂.

Chromosomal instability in cancer is linked to endoplasmic reticulum stress signalling, immune suppression and metastasis, which is mediated by the cGAS–STING pathway, suppression of which can reduce metastasis.

A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.

Calcium phosphate nanoparticles formed naturally in the intestine aid the transport of soluble molecules from the gut lumen to immune cells of the intestinal tissue, and contribute to the immune surveillance and homeostasis of the gut.

Parveen et al., using immunological, and metabolomics-based assays, demonstrate the importance of host glutamine metabolism in tuberculosis pathogenesis and show host-directed activity against tuberculosis.

Date palm is an important fruit crop in the Middle East and North Africa. Here, the authors report an improved genome assembly of this species and perform GWAS mapping of sex determining region and 21 fruit traits using high density SNP data generated from re-sequencing of the mapping population.

Observations from the JWST show the presence of a spectral absorption feature at 4.05 μm arising from SO₂ in the atmosphere of the gas giant exoplanet WASP-39b, which is produced by photochemical processes and verified by numerical models.

Photochemical hazes in exoplanet atmospheres work as opacity barriers, hindering characterization of the atmospheres themselves. Here laboratory experiments quantify the haze surface energies that factor into the removal of hazes from atmospheres, which, when added to existing data on haze production, give a greater understanding of haze properties.

Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

Genome-wide association meta-analyses identify 26 risk loci for epilepsy, including 19 loci specific to genetic generalized epilepsy. Prioritized candidate genes implicate synaptic processes and overlap with targets of antiseizure medications.

Exhausted T cells arise when chronic activation triggers functional defects. Here the authors show that chronic antigenic stimulation in both tumour and infection models induces the expression of EGR2, which drives and stabilises exhausted cell epigenetic and transcriptional identity.

Samstein et al. report that mutations in BRCA1 and BRCA2 result in distinct mutational genomic landscapes, effects on the tumor-immune microenvironment and response to immune checkpoint therapy.

A contemporary test of the theory of island biogeography, in which species richness is determined by an island’s area and isolation, shows that geographic area is still a good positive predictor of species richness, but that geographic isolation as a negative predictor has been replaced by economic isolation.

Across 21 societies, people alter their speech and song when interacting with infants. These infant-directed vocalizations are recognized by listeners. This suggests that forms of human vocalizations may be shaped by their functions.

Land-based mitigation for meeting the Paris climate target must consider the carbon cycle impacts of land-use change. Here the authors show that when bioenergy crops replace high carbon content ecosystems, forest-based mitigation could be more effective for CO₂ removal than bioenergy crops with carbon capture and storage.

Transmission spectroscopy observations from the James Webb Space Telescope show the detection of carbon dioxide in the atmosphere of the gas giant exoplanet WASP-39b.

Vaccination with BCG has been shown to induce a pre-priming effect in innate immune cells termed trained immunity. Here the authors re-engineer the BCG vaccine and show augmented immune responses, enhanced induction of trained immunity and improved antitumor efficacy in pre-clinical models of bladder cancer.

A yeast surface display screen identifies five Aedes aegypti salivary proteins that are antigenic in mice repeatedly bitten by these mosquitoes. Antiserum against one of these proteins, Anopheles gambiae bacteria-responsive 1, partially protected mice against lethal mosquito-borne Zika virus infection.

This study uses gene expression predictors for the dorsolateral prefrontal cortex and other brain regions to perform a transcriptomic imputation analysis of schizophrenia, identifying 413 genic associations across 13 brain regions and 36 significantly enriched pathways.

Reducing food waste is important. Here the authors investigate whether digitally enabled social networks can efficiently reduce food waste and find that in 19 months, around 91t of food waste were collected by secondary consumers and diverted from disposal.

Alzheimer's disease (AD) is a chronic neurodegenerative disorder characterized by progressive neuropathology and cognitive decline. Here the authors describe an epigenome-wide association study (EWAS) of human post-mortem brain samples across multiple independent AD cohorts. They find consistent hypermethylation of the ANK1 gene associated with neuropathology.

Meningeal lymphatic dysfunction promotes amyloid-β deposition in the meninges and worsens brain amyloid-β pathology, acting as an aggravating factor in Alzheimer’s disease and in age-associated cognitive decline; improving meningeal lymphatic function could help to prevent or delay age-associated neurological diseases.

The mechanisms that enforce T cell quiescence are incompletely understood. Slfn2 has now been identified as another participant in this process, functioning as a critical regulator of T cell– and monocyte-mediated immunity.

T cell activation requires an influx of amino acids. Slc7a5, an amino-acid transporter induced by the T cell antigen receptor, facilitates the influx of large neutral amino acids and in doing so promotes metabolic reprogramming necessary for T cell differentiation.

A consortium reports the tripling of the number of genetic markers in Phase II of the International HapMap Project. This map of human genetic variation will continue to revolutionize discovery of susceptibility loci in common genetic diseases, and study of genes under selection in humans.

The sensors of damage and danger in the nematode epidermis are unclear. Ewbank and colleagues show that the G protein–coupled receptor DCAR-1 detects epithelial damage elicited mechanically or by a fungal pathogen.

Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

This is an issue edsumm for ng1946. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence.

A meta-analysis of genome-wide association studies of phenotypic variation for height and body mass index in human populations using 170,000 samples shows that one single nucleotide polymorphism at the FTO locus, which is associated with obesity, is also associated with phenotypic variation.

Tsg101 is a component of the host cellular ESCRT machinery and is required for HIV-1 replication. Here, the authors show that disruption of ubiquitin binding of the Tsg101 UEV domain through commonly used drugs arrests virus assembly, which might facilitate the development of potent HIV inhibitors.

Multijunction solar cells are more efficient and more expensive than single-junction photovoltaic cells, but their cost-effectiveness remains unclear. Here, Sofia et al. study the manufacturing costs of thin-film devices to analyse the levelized cost of electricity of single and multijunctions in the United States.