Search

Eriksson, Aranda-Guillén et al., conduct a comprehensive analysis of autoantibodies in paraneoplastic pemphigus and identify that autoantibodies against SERPINB3 are associated with the life-threatening lung condition bronchiolitis obliterans. These discoveries provide new diagnostic biomarkers that could also allow for earlier detection of the underlying cancer.

Nordvall et al. use a cohort study design to study causal effects of the COVID-19 vaccine on childbirth rates in a representative Swedish population. They show that COVID-19 vaccination has no association with either childbirth rates or miscarriages.

Autoimmune Addison’s disease is a rare complex disease, which has not yet been characterized by non-biased genetic studies. Here, the authors perform the first GWAS for the disease, identifying nine loci including two coding variants in the gene Autoimmune Regulator (AIRE).

Anisotropic hybridization between conduction and unpaired f electrons is rarely observed. Now, a lanthanide-based two-dimensional compound exhibits nodal hybridization, giving rise to heavy-fermion behaviour.

Prior studies have pointed to the role of spin-polarized hot electrons in ultrafast demagnetization. Here, by combining time and element resolved X-ray magnetic circular dichroism with theoretical calculations, Gupta et al quantitatively resolve both the effect of spin polarization and the current densities in ultrashort hot electron pulses.

Panos Deloukas, Nilesh Samani and colleagues report a large-scale association analysis using the Metabochip array in 63,746 coronary artery disease cases and 130,681 controls. They identify 15 susceptibility loci, refine previous associations and use network analysis to highlight biological pathways.

Patricia Munroe, Christopher Newton-Cheh, Andrew Morris and colleagues perform association studies in over 340,000 individuals of European ancestry and identify 66 loci, of which 17 are novel, involved in blood pressure regulation. The risk SNPs are enriched for cis-regulatory elements, particularly in vascular endothelial cells.

Inborn errors of the alternative NF-κB pathway in humans impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases

Folkersen et al. report the first results from the SCALLOP consortium, a collaborative framework for pQTL mapping and biomarker analysis of proteins on the Olink platform. A total of 315 primary and 136 secondary pQTLs for 85 circulating cardiovascular proteins from over 30,000 individuals were identified and replicated to yield new insights for translational studies and drug development.

The genetics and clinical consequences of resting heart rate (RHR) remain incompletely understood. Here, the authors discover new genetic variants associated with RHR and find that higher genetically predicted RHR decreases risk of atrial fibrillation and ischemic stroke.

High-throughput electronic structure calculations, together with structural data-mining algorithms, allow the identification of new two-dimensional materials.

Ruth Loos and colleagues report results of a large genome-wide association study for body mass index. They identify 18 new loci associated with this trait, some of which map near key hypothalamic regulators of energy balance.

Genome-wide association analysis of gout and urate identifies 148 new loci, implicating biological pathways and prioritizing candidate genes involved in inflammatory processes.

Materials with low magnetic damping are important for a range of applications but are typically insulating, which limits their use. Thanks to a unique feature of the band structure, similar levels of damping can now be achieved in a metallic alloy.

We present comprehensive thermodynamic and spectroscopic evidence for an antiferromagnetically ordered heavy-fermion ground state in the van der Waals metal CeSiI.

The spin texture of a magnetic system can host a variety of topological spin textures, the most famous of these being skyrmions. Here, Volkov et al demonstrate higher order vorticity in magnetic wireframe nanostructures and introduce a general protocol for the creation of arbitrary numbers of vortices and antivortices in such wireframe structures.

Topological excitations in insulating magnets have recently attracted great interest from a fundamental and applied perspective. Here, Pereiro et al.report on the conditions to generate, stabilize and control skyrmions, even at room temperature, in a kagome magnet.

Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of European, east Asian, south Asian and Mexican and Mexican American ancestry. They identify seven loci newly associated with type 2 diabetes and examine the genetic architecture of disease across populations.

Thermal fluctuations associated with higher temperatures normally destroy long-range order, but in some circumstances they can stabilize new ordered phases. This ‘order by disorder’ phenomenon has now been observed in the magnetic phases of neodymium.

Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine mapping and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants is enriched for overlap with FOXA2 binding sites in human islet and liver cells, and they show that a likely causal variant near MTNR1B increases FOXA2-bound enhancer activity, providing a molecular mechanism to explain the effect of this locus on disease risk.

Fernando Rivadeneira and colleagues in the Genetic Factors for Osteoporosis Consortium report a large-scale meta-analysis identifying new loci associated with bone mineral density (BMD) and risk of fracture. Thirty-two new loci are found to be associated with BMD, and 6 loci confer higher risk for low-trauma bone fracture.

Aortic valve stenosis (AS) is the most common valvular heart disease. Here the authors identify two new AS loci that also associate with bicuspid aortic valve, aortic root diameter and/or coronary artery disease implicating both developmental abnormalities and atherosclerosis-like processes in AS.

This very large genome-wide association study identifies hundreds of new genetic variants influencing adult height in at least 180 loci enriched for genes involved in skeletal growth defects. The results show that the likely causal gene is often located near the most strongly associated variant, that many loci have multiple independently associated variants and that associated variants are enriched for likely functional effects on genes.

Human population genomic studies, including whole‐genome sequencing, were undertaken to identify determinants of bone mineral density (BMD), a major predictor of osteoporotic fractures. Non‐coding variants with large effects on BMD and fractures were identified near the EN1 locus and mouse studies confirmed this gene has an important role in skeletal biology.

Mark McCarthy, Michael Boehnke, Andrew Morris and colleagues perform large-scale association analyses using the Metabochip to gain insights into the genetic architecture of type 2 diabetes. They report several new susceptibility loci, including two that show sex-differentiated effects on disease risk.