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We report evidence of non-reciprocal dissipation-less transport in single ballistic InSb nanoflag Josephson junctions, owing to a strong spin-orbit coupling. Applying an in-plane magnetic field, we observe an inequality in supercurrent for the two opposite current propagation directions. This demonstrates that these devices can work as Josephson diodes, with dissipation-less current flowing in only one direction. For small fields, the supercurrent asymmetry increases linearly with the external field, then it saturates as the Zeeman energy becomes relevant, before it finally decreases to zero at higher fields. We show that the effect is maximum when the in-plane field is perpendicular to the current vector, which identifies Rashba spin-orbit coupling as the main symmetry-breaking mechanism. While a variation in carrier concentration in these high-quality InSb nanoflags does not significantly influence the diode effect, it is instead strongly suppressed by an increase in temperature. Our experimental findings are consistent with a model for ballistic short junctions and show that the diode effect is intrinsic to this material. Our results establish InSb Josephson diodes as a useful element in superconducting electronics.

Setting up strong Josephson coupling in van der Waals materials in close proximity to superconductors offers several opportunities both to inspect fundamental physics and to develop novel cryogenic quantum technologies. Here we show evidence of Josephson coupling in a planar few-layer black Phosphorus junction. The planar geometry allows us to probe the junction behavior by means of external gates, at different carrier concentrations. Clear signatures of Josephson coupling are demonstrated by measuring supercurrent flow through the junction at milli Kelvin temperatures. Manifestation of Fraunhofer pattern with a transverse magnetic field is also reported, confirming the Josephson coupling. These findings represent the first evidence of proximity Josephson coupling in a planar junction based on a van der Waals material beyond graphene and open the way to new studies, exploiting the peculiar properties of exfoliated black phosphorus thin flakes.

The human gut microbiome (GM) is a complex ecosystem that includes numerous prokaryotic and eukaryotic inhabitants. The composition of GM can influence an array of host physiological functions including immune development. Accumulating evidence suggest that several members of non-bacterial microbiota, including protozoa and helminths, that were earlier considered as pathogens, could have a commensal or beneficial relationship with the host. Here we examine the most recent data from omics studies on prokaryota-meiofauna-host interaction as well as the impact of gut parasitome on gut bacterial ecology and its role as ‘immunological driver’ in health and disease to glimpse new therapeutic perspectives.

We theoretically investigate a quantum heat diode based on two interacting flux qubits coupled to two heat baths. Rectification of heat currents is achieved by asymmetrically coupling the qubits to the reservoirs, which are modeled as dissipative $RLC$ resonators. We find that the coherent interaction between the qubits can be exploited to enhance the rectification factor, which otherwise would be constrained by the temperatures and couplings of the baths. Remarkably high values of the rectification ratio, up to $\mathcal{R}\ensuremath{\sim}3.5$, can be obtained for realistic system parameters, with an enhancement up to approximately $230\mathrm{%}$ compared to the noninteracting case. The system features the possibility of manipulating both the rectification amplitude and direction, allowing for an enhancement or suppression of the heat flow to a chosen bath. For the parameter regime in which rectification is maximized, we find a significant increase of the rectification above a critical interaction value, which corresponds to the onset of a nonvanishing entanglement in the system. Finally, we discuss the dependence of the rectification factor on the bath temperatures and couplings.

A comprehensive understanding of the microbiome-host relationship in respiratory diseases can be elucidated by exploring the landscape of virome-bacteriome-host metabolome data through unsupervised 'multi-omics' approaches. Here, we describe how the composition and function of airway and gut virome and bacteriome may contribute to pathogen establishment and propagation in airway districts and how the virome-bacteriome communities may react to respiratory diseases. A new systems medicine approach, including the characterization of respiratory and gut microbiome, may be crucial to demonstrate the likelihood and odds of respiratory disease pathophysiology, opening new avenues to the discovery of a chain of causation for key bacteria and viruses in disease severity.

We discuss the response of an rf-SQUID formed by anomalous Josephson junctions embedded in a superconducting ring with a non-negligible inductance. We demonstrate that a properly sweeping in-plane magnetic field can cause both the total flux and the current circulating in the device to modulate and to behave hysteretically. The bistable response of the system is analyzed as a function of the anomalous phase shift at different values of the screening parameter, in order to highlight the parameter range within which a hysteretic behavior can be observed. The magnetic flux piercing the SQUID ring is demonstrated to further modulate the hysteretical response of the system. Moreover, we show that the anomalous phase shift can be conveniently determined through the measurement of the out-of-plane magnetic field at which the device switches to the voltage state and the number of trapped flux quanta changes. Finally, we compare the response of two different device configurations, namely, a SQUID including only one or two anomalous junctions. In view of these results, the proposed device can be effectively used to detect and measure the anomalous Josephson effect., F.S.B., C.S.-F., and C.G. acknowledge funding by the Spanish Ministerio de Ciencia, Innovación, y Universidades (MICINN) (Project No. FIS2017-82804-P). F.S.B. acknowledges partial support by Grupos Consolidados UPV/EHU del Gobierno Vasco (Grant No. IT1249-19), and by EU’s Horizon 2020 research and innovation program under Grant Agreement No. 800923 (SUPERTED). The work of E.S. was supported by a Marie Curie Individual Fellowship (MSCA-IFEFST No. 660532-SuperMag). E.S., N.L., and F.G. acknowledge partial financial support from the European Union’s Seventh Framework Programme (FP7/2007-2013)/ERC Grant No. 615187-COMANCHE. E.S., A.I., N.L., F.S.B., and F.G. were partially supported by EU’s Horizon 2020 research and innovation program under Grant Agreement No. 800923 (SUPERTED). A.B. acknowledges the CNR-CONICET cooperation program Energy Conversion in Quantum Nanoscale Hybrid Devices, the SNS-WIS joint laboratory QUANTRA, funded by the Italian Ministry of Foreign Affairs and International Cooperation, and the Royal Society through the International Exchanges between the UK and Italy (GrantsNo. IES R3 170054 and No. IEC R2 192166).

Background: Strongyloidiasis is a neglected tropical disease caused by the intestinal nematode Strongyloides stercoralis and characterized by gastrointestinal and pulmonary involvement. We report a pediatric case of strongyloidiasis to underline the response of the host microbiota to the perturbation induced by the nematode. Methods: We performed a 16S rRNA-metagenomic analysis of the gut microbiota of a 7-year-old female during and after S. stercolaris infection, investigating three time-point of stool samples’ ecology: T0- during parasite infection, T1- a month after parasite infection, and T2- two months after parasite infection. Targeted-metagenomics were used to investigate ecology and to predict the functional pathways of the gut microbiota. Results: an increase in the alpha-diversity indices in T0-T1 samples was observed compared to T2 and healthy controls (CTRLs). Beta-diversity analysis showed a shift in the relative abundance of specific gut bacterial species from T0 to T2 samples. Moreover, the functional prediction of the targeted-metagenomics profiles suggested an enrichment of microbial glycan and carbohydrate metabolisms in the T0 sample compared with CTRLs. Conclusions: The herein report reinforces the literature suggestion of a putative direct or immune-mediated ability of S. stercolaris to promote the increase in bacterial diversity.

Semiconductor nanowires featuring strong spin-orbit interactions (SOI), represent a promising platform for a broad range of novel technologies, such as spintronic applications or topological quantum computation. However, experimental studies into the nature and the orientation of the SOI vector in these wires remain limited despite being of upmost importance. Typical devices feature the nanowires placed on top of a substrate which modifies the SOI vector and spoils the intrinsic symmetries of the system. In this work, we report experimental results on suspended InAs nanowires, in which the wire symmetries are fully preserved and clearly visible in transport measurements. Using a vectorial magnet, the non-trivial evolution of weak anti-localization (WAL) is tracked through all 3D space, and both the spin-orbit length $l_{SO}$ and coherence length $l_\varphi$ are determined as a function of the magnetic field magnitude and direction. Studying the angular maps of the WAL signal, we demonstrate that the average SOI within the nanowire is isotropic and that our findings are consistent with a semiclassical quasi-1D model of WAL adapted to include the geometrical constraints of the nanostructure. Moreover, by acting on properly designed side gates, we apply an external electric field introducing an additional vectorial Rashba spin-orbit component whose strength can be controlled by external means. These results give important hints on the intrinsic nature of suspended nanowire and can be interesting for in the field of spintronics as well as for the manipulation of Majorana bound states in devices based on hybrid semiconductors., Comment: 13 pages, 11 figures

Aims An increased rate of cerebrovascular complications in patients with metabolic syndrome (MetS) has been reported. Previous studies demonstrated an association between glycemic variability (GV) and cerebrovascular reactivity (CRV) in MetS, thus suggesting a putative role of GV on cerebrovascular events. Although the pathophysiological mechanism linking GV to damage is still to be elucidated, evidence suggests oxidative stress plays a crucial role. Since functional variants in glutathione S-transferases (GST) genes modulate the cellular detoxification processes, the aim of this study was to elucidate the involvement of GSTs in MetS and investigating the correlation with GV, arterial stiffness, and sympatho-vagal (SV) balance. Methods A hundred metabolic syndrome patients without diabetes underwent GST gene polymorphism analysis and a sub-sample 36 patients were randomly selected to investigate the correlation between GST gene polymorphisms and GV, and sympatho-vagal (SV) balance and arterial stiffness. Results GSTM1 showed a significant association with several GV, arterial stiffness, and SV balance indexes. In particular, the GSTM1 deletion positively correlates with lower values of these indexes when compared to the presence of the gene. Conclusions Therefore, we suggested a global influence of GSTM1 deletion on the GV, arterial stiffness, and SV balance pathways in MetS patients, probably also interacting with AMP-activated protein kinase (AMPK) regulation. Our novel findings indicate GSTM1 could be a risk locus in MetS development and shed light novel scenarios on the role of glucose fluctuations in neurological impairments.

Glutathione S-transferases (GSTs) are the main phase II enzymes involved in the cellular detoxification. Through phase I and phase II detoxification reactions, the cell is able to detoxify endogenous and exogenous toxic compounds. In this study, we focused our attention on the GSTA1*-69C/T gene polymorphism (rs3957357) in order to explore its involvement in the genetic predisposition to gestational hypertension (GH).The case-control population consists of 195 subjects. The genotyping of the GSTA1*-69C/T was performed by using an RFLP-PCR technique. We calculated odds ratios (ORs), adjusted for the confounding variables, to estimate the association between GSTA1 and GH.Significant allelic differences in GSTA1*-69C/T are present between GH women and pregnant women without cardiovascular complications (p0.05). Specifically, we observed that the dominant genetic model best explains the observed genetic association, according to the Akaike information criterion and the Bayesian information criterion.Our study highlighted a significant association between the GSTA1 gene and the risk of GH in Italian patients. In particular, the -69C/T variant was significantly associated with disease risk. Since previous studies indicated that this GSTA1 polymorphism is associated with different pregnancy-related conditions, our finding supports the notion that GSTA1 may play a key role during pregnancy.

Objectives Glutathione S-transferases (GSTs) are enzymes involved in Phase II reactions. They play a key role in cellular detoxification. Various studies have shown that genes coding for the GST are highly polymorphic and some of these variants are directly associated with a decrease of enzyme activity making individuals more susceptible to different clinical phenotypes. The aim of this study is to investigate the genetic variability of GST genes among human populations. We have focused our attention on the polymorphic variants of the GSTA1, GSTM1, GSTO1, GSTO2, GSTP1, GSTT1, and GSTT2B genes. Methods These polymorphisms were analyzed in a whole sample of 151 individuals: 112 autochthonous Navarrese Basques, and 39 non-autochthonous Navarrese Basques. DNA extraction from plasma was performed by using the phenol:chloroform:isoamylic alcohol method. Genotyping of the gene polymorphisms was performed by PCR Multiplex and the PCR-RFLP method. We applied correspondence analysis and built frequency-maps to compare the genetic structure in worldwide populations. Results Our results were compared with data available on the Human Genome Diversity Project (HGDP) and on the 1,000 Genomes Project to obtain information on the functional variability of GSTs in Basques. Our data indicated that Basque communities showed a higher differentiation of certain functional GST variants (i.e., GSTM1-positive/null genotype, GSTP1*I105V, and GSTT2B*1/0) than other European and Mediterranean populations. Conclusions This might account for epidemiological differences in the predisposition to diseases and drug response among Basques and could be used to design and interpret genetic association studies for this particular population. Am. J. Hum. Biol. 26:361–366, 2014. © 2014 Wiley Periodicals, Inc.

Several variants have been identified for genes encoding Glutathione S-transferase (GST) enzymes; some are associated with significant alteration of protein function. One of the most extensively studied is a copy number variant (CNV) in the GSTM1 gene. In this study, we compared phenotype (positive, null) and genotype (1/1, 1/0, 0/0) methods in order to assess dissimilarities obtained using these two different approaches to evaluate possible methodology-related bias. We analyzed a sample of 1947 individuals belonging to 18 human populations with different ethnic origins. We also evaluated whether the presence of missense substitutions in the GSTM1 gene might influence the association of the CNV with phenotype distribution. Through the comparison of GSTM1 CNV frequencies in phenotype and genotype among human populations, we observed that differences increase in high heterogeneous populations. Furthermore, we identified two missense variants (rs199816990 and rs202002774) that may distort the outcome of genetic association studies on Asian populations. These results indicate that the phenotype analysis may strongly alter the genetic association. Therefore, genotype discrimination analysis should be used to analyze GSTM1 CNV. To understand the role of GSTM1 in human health, the analysis of CNV should be combined with the investigation of single nucleotide polymorphisms with functional effect.

Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype–phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype–phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations. Polygenic scores for genetically determined TTR expression were constructed using data from our re-sequencing analysis and the GTEx (Genotype-Tissue Expression) project. We confirmed a strong phenotypic heterogeneity across coding mutations causing TTR amyloidosis. Considering the effects of non-coding variants on TTR expression, we identified three patient clusters with specific expression patterns associated with certain phenotypic presentations, including late onset, autonomic neurological involvement, and gastrointestinal symptoms. This study provides novel data regarding the role of non-coding variation and the gene expression profiles in patients affected by TTR amyloidosis, also putting forth an approach that could be used to investigate the mechanisms at the basis of the genotype–phenotype correlation of the disease.

Background Transthyretin (TTR) amyloidosis is a hereditary disease with a complex genotype-phenotype correlation. We conducted a literature survey to define the clinical landscape of TTR amyloidosis across populations worldwide. Then, we investigated whether the genetically determined TTR expression differs among human populations, contributing to the differences observed in patients. Polygenic scores for genetically determined TTR expression in 14 clinically relevant tissues were constructed using data from the GTEx (Genotype-Tissue Expression) project and tested in the samples from the 1,000 Genomes Project. Results We observed differences among the ancestral groups and, to a lesser extent, among the investigated populations within the ancestry groups. Scandinavian populations differed in their genetically determined TTR expression of skeletal muscle tissue with respect to Southern Europeans (p = 6.79*10−6). This is in line with epidemiological data related to Swedish and Portuguese TTR Val30Met endemic areas. Familial amyloidotic cardiomyopathy (TTR deposits occur primarily in heart tissues) presents clinical variability among human populations, a finding that agrees with the among-ancestry diversity of genetically determined TTR expression in heart tissues (i.e., Atrial Appendage p = 4.55*10−28; Left Ventricle p = 6.54*10−35). Conclusions Genetically determined TTR expression varied across human populations. This might contribute to the genotype-phenotype correlation of TTR amyloidosis. Electronic supplementary material The online version of this article (doi:10.1186/s12864-017-3646-1) contains supplementary material, which is available to authorized users.

Glutathione S-Transferase enzymes (GSTs) constitute the principal Phase II superfamily which plays a key role in cellular detoxification and in other biological processes. Studies of GSTs have revealed that genetic polymorphisms are present in these enzymes and that some of these are Loss-of-Function (LoF) variants, which affect enzymatic functions and are related to different aspects of human health. The aim of this study was to analyze functional genetic differences in GST enzymes among human populations. Attention was focused on LoF polymorphisms of GSTA1, GSTM1, GSTO1, GSTO2, GSTP1 and GSTT1 genes. These LoF variants were analyzed in 668 individuals belonging to six human groups with different ethnic backgrounds: Amhara and Oromo from Ethiopia; Colorado and Cayapa Amerindians and African Ecuadorians from Ecuador; and one sample from central Italy. The HapMap database was used to compare our data with reference populations and to analyze the haplotype and Linkage Disequilibrium diversity in different ethnic groups. Our results highlighted that ethnicity strongly affects the genetic variability of GST enzymes. In particular, GST haplotypes/variants with functional impact showed significant differences in human populations, according to their ethnic background. These data underline that human populations have different structures in detoxification genes, suggesting that these ethnic differences influence disease risk or response to drugs and therefore have implications for genetic association studies involving GST enzymes. In conclusion, our investigation provides data about the distribution of important LoF variants in GST genes in human populations. This information may be useful for designing and interpreting genetic association studies.

In the area of Rome object of study, the cremations account for 10% of total burials (522 cremation burials of 4758), unlike the contemporary cemeteries of French and Cispadane areas where they are well over 30%. Detailed analysis of the cemeteries, confirms that the indirect cremations (urns and graves) represent over 85% of the sample, while direct cremations (busta sepulcra) are under-represented. For a selected sample of 69 cremations, demographic analysis was performed and it shows a discrete prevalence of women and an almost equal distribution of males and subadults. Quantitative analysis of burned bones was conducted on cremations found perfectly intact during excavation, it indicates that cremations are generally completed and that they have all the anatomical regions represented.

Glutathione S-transferases (GSTs) are the main phase II enzymes involved in cellular detoxification. Through phase I and phase II detoxification reactions, the cell is able to detoxify endogenous and exogenous toxic compounds.This study focused attention on the GSTT2B copy number variant (CNV) in order to explore its involvement in the genetic pre-disposition to asthma, Alzheimer's disease (AD), allergic rhinitis (AR), essential hypertension (EH), hypothyroidism and recurrent miscarriage (RM).The study population consists of 1225 individuals divided into six case-control groups. The genotyping of the GSTT2B CNV was performed by using a duplex-PCR. Odds Ratios (ORs) were calculated, adjusting for the confounding variables, to estimate the association between GSTT2B CNV and the disease status.The χ(2)-test and ORs did not show any association between this genetic marker and pathological phenotypes.The data highlights that GSTT2B CNV is not associated with the investigated complex diseases in Italian patients. However, further investigations are necessary to replicate these findings in larger sample sizes and to explore other health-related phenotypes.

Transthyretin (TTR)-related amyloidosis is characterized by autosomal transmission of amyloidogenic mutated TTR. Val30Met is one of the most common amyloidogenic TTR mutations, showing a worldwide distribution with phenotypic heterogeneity among human populations. Multiple founder mutations for Val30Met foci have been hypothesized and the different origins may explain the phenotypic variability. The aim of our study is to determine the origin of Italian Val30Met and to analyze the genetic relationship of other Val30Met foci.We analyzed the origin of Italian Val30Met through 11 microsatellite markers around the TTR gene in 29 patients and 34 healthy controls.Our genetic analysis showed an estimated age of origin of 34-36 generations ago for the Italian Val30Met. Comparing Italian Val30Met haplotypes with those from Sweden and Portugal highlights relevant differences that seem to be consistent with an independent origin of Italian Val30Met mutation. This genetic evidence agrees with the disease phenotypic variation in these populations.Italian Val30Met mutation should have originated before the Portuguese and Swedish Val30Met ones (which arose through independent mutational events). This indicates a genetic diversity in the surrounding regions of three different Val30Met mutations, supporting the hypothesis that TTR non-coding regions may contribute to phenotypic heterogeneity.

Two gene clusters are tightly linked in a narrow region of chromosome 22q11.23: the macrophage migration inhibitory factor (MIF) gene family and the glutathione S-transferase theta class. Within 120 kb in this region, two 30-kb deletions reach high frequencies in human populations. This gives rise to four haplotypic arrangements, which modulate the number of genes in both families. The variable patterns of linkage disequilibrium (LD) between these copy number variants (CNVs) in diverse human populations remain poorly understood. We analyzed 2469 individuals belonging to 27 human populations with different ethnic origins. Then we correlated the genetic variability of 22q11.23 CNVs with environmental variables. We confirmed an increasing strength of LD from Africa to Asia and to Europe. Further, we highlighted strongly significant correlations between the frequency of one of the haplotypes and pigmentation-related variables: skin color (R(2)=0.675, P0.001), distance from the equator (R(2)=0.454, P0.001), UVA radiation (R(2)=0.439, P0.001), and UVB radiation (R(2)=0.313, P=0.002). The fact that all MIF-related genes are retained on this haplotype and the evidences gleaned from experimental systems seem to agree with the role of MIF-related genes in melanogenesis. As such, we propose a model that explains the geographic and ethnic distribution of 22q11.23 CNVs among human populations, assuming that MIF-related gene dosage could be associated with adaptation to low UV radiation.

Aim: To investigate the human pharmacogenetic variation related to antihypertensive drugs, providing a survey of functional interpopulation differences in hypertension pharmacogenes. Materials & methods: The study was divided into two stages. In the first stage, we analyzed 1249 variants located in 57 hypertension pharmacogenes. This first-stage analysis confirmed that geographic origin strongly affects hypertension pharmacogenomic variation and that 31 pharmacogenes are geographically differentiated. In the second stage, we focused our attention on the ethnic-differentiated pharmacogenes, investigating 55,521 genetic variants. In silico analyses were performed to predict the effect of genetic variation. Results: Our analyses indicated functional interpopulation differences, suggesting insight into the mechanisms of antihypertensive drug response. Moreover, our data suggested that rare variants mainly determine the functionality of genes related to antihypertensive drugs. Conclusion: Our study provided important knowledge about the genetics of the antihypertensive drug response, suggesting that next-generation sequencing technologies may develop reliable pharmacogenetic tests for antihypertensive drugs. Original submitted 19 September 2013; Revision submitted 14 November 2013

Glutathione S-transferases (GSTs) are enzymes involved in Phase II reactions. They play a key role in cellular detoxification. Various studies have shown that genes coding for the GST are highly polymorphic and some of these variants are directly associated with a decrease of enzyme activity making individuals more susceptible to different clinical phenotypes. The aim of this study is to investigate the genetic variability of GST genes among human populations. We have focused our attention on the polymorphic variants of the GSTA1, GSTM1, GSTO1, GSTO2, GSTP1, GSTT1, and GSTT2B genes.These polymorphisms were analyzed in a whole sample of 151 individuals: 112 autochthonous Navarrese Basques, and 39 non-autochthonous Navarrese Basques. DNA extraction from plasma was performed by using the phenol:chloroform:isoamylic alcohol method. Genotyping of the gene polymorphisms was performed by PCR Multiplex and the PCR-RFLP method. We applied correspondence analysis and built frequency-maps to compare the genetic structure in worldwide populations.Our results were compared with data available on the Human Genome Diversity Project (HGDP) and on the 1,000 Genomes Project to obtain information on the functional variability of GSTs in Basques. Our data indicated that Basque communities showed a higher differentiation of certain functional GST variants (i.e., GSTM1-positive/null genotype, GSTP1*I105V, and GSTT2B*1/0) than other European and Mediterranean populations.This might account for epidemiological differences in the predisposition to diseases and drug response among Basques and could be used to design and interpret genetic association studies for this particular population.

Summary Human Leucocyte Antigen (HLA) loci are widely known for their role in the generation of immune responses and are often considered to be effective in reconstructing human relationships. This is due to the high degree of polymorphism and the rarity of recombination observed at HLA loci. In this study, we have made an attempt to support the potential of HLA class II loci by analysing DQA1 and DQB1 in 52 Ecuadorians with ties to the Tsachilas community. Little is known about this populations either ethnologically or historically: they are considered retaining much of the ancient Chibchan culture in spite of the lack of significant genetic characterization. A total of 21 alleles were observed, with very low heterozygosity. The obtained data were then assessed for relationship reconstruction. The compiled database of 63 populations was segregated and resolved in clusters corresponding to the ethnogeographic distribution of the populations. This analysis of Central and Southern Amerindians allowed us to support a historical hypothesis related to the origin and migration of Ecuadorian people. Indeed, the relationships with neighbour human groups, especially Cayapas and Colombians, could shed light on the genetic similarity within ancient Chibchan culture that was dispersed by tribes coming up the Barbacoas. This indicates that if an appropriate analysis was to be carried out on a set of populations representative of different geographic locations, and that analysis was properly interpreted, then there would be a high possibility that HLA class II loci could infer accurate assessments, as revealed by uniparental markers.

SUMMARY 1. Asthma and allergies are characterized by variable and subjective symptoms influenced by many genes, molecular mechanisms and environmental factors. The presence of inflammation and oxidative stress in the airways are important biochemical features of asthma and respiratory allergies. Glutathione Stransferase (GSTs) enzymes play an important role in cellular protection against inflammation, and functional genetic polymorphisms in GST genes show a significant association with asthma and allergy risk. Specifically, our previous study on asthmatic children highlighted GSTA1 and GSTO2 as novel susceptibility loci for asthma. 2. In the present study we focused our attention on GSTA1*-69C/T (rs3957357) and GSTO2*N142D (rs156697) polymorphisms to confirm our previous results in an independent adult study population and to clarify whether GSTA1 and GSTO2 gene polymorphisms are involved in a non-discriminative pathway towards asthma and respiratory allergy. 3. To accomplish this, we recruited 103 patients with respiratory allergies, 199 patients with asthma and 200 healthy controls. Genomic DNA extracted from buccal cells was screened for GSTA1*-69C/T and GSTO2*N142D single nucleotide polymorphisms. 4. The GSTA1*-69T and GSTO2*D142 variants are both associated with a significantly increased risk of asthma, whereas only GSTA1*-69C/T is significantly associated with allergies. These outcomes confirm the involvement of GSTO2 loci in asthma and suggest that GSTA1 is a common risk factor for asthma and allergies.

Several variants have been identified for genes encoding Glutathione S-transferase (GST) enzymes; some are associated with significant alteration of protein function. One of the most extensively studied is a copy number variant (CNV) in the GSTM1 gene. In this study, we compared phenotype (positive, null) and genotype (1/1, 1/0, 0/0) methods in order to assess dissimilarities obtained using these two different approaches to evaluate possible methodology-related bias. We analyzed a sample of 1947 individuals belonging to 18 human populations with different ethnic origins. We also evaluated whether the presence of missense substitutions in the GSTM1 gene might influence the association of the CNV with phenotype distribution. Through the comparison of GSTM1 CNV frequencies in phenotype and genotype among human populations, we observed that differences increase in high heterogeneous populations. Furthermore, we identified two missense variants (rs199816990 and rs202002774) that may distort the outcome of genetic association studies on Asian populations. These results indicate that the phenotype analysis may strongly alter the genetic association. Therefore, genotype discrimination analysis should be used to analyze GSTM1 CNV. To understand the role of GSTM1 in human health, the analysis of CNV should be combined with the investigation of single nucleotide polymorphisms with functional effect.

The aim of this study is to explore human leukocyte antigen (HLA)-DQ variability in two populations (Cayapas Amerindians and Afro-Ecuadorians) who live near one another along the Cayapa River and who are exposed to the same environmental stresses, such as infection by Onchocerca volvulus. HLA-DQA1 and HLA-DQB1 of 149 unrelated individuals (74 Cayapas and 75 Afro-Ecuadorians) have been analyzed. HLA high-resolution molecular typing was performed by sequence-based typing, sequence-specific oligonucleotides hybridization and sequence-specific primer (SSP) amplification. The comparison between affected (cases) and unaffected people (controls) in both populations shows the key role of several HLA-DQA1 alleles in susceptibility and protection against onchocerciasis. In both populations, there is strong evidence related to the protective role of DQA1*0401 against onchocerciasis. Alleles HLA-DQA1*0102 and *0103 seem to represent risk factors in Afro-Ecuadorians, while HLA-DQA1*0301 is only a suggestive susceptibility allele in Cayapas. These findings represent new positive/negative associations with onchocerciasis in South America, whereas previous findings pertained only to African populations.

We benefited from the flexibility provided by virtual reality to enhance a classical paradigm on array and self mental rotations and related questions on a set of items. We used this paradigm to investigate how the Level of Schizotypy in nonclinical subjects might influence their behavior in egocentric and allocentric mental transformations. Three elements of novelty were introduced: (i) we separated the phases of mental transformation (Imagined Rotation Phase) and task performance (Task Phase), (ii) we measured the time required for Imagined Rotation Phase and Task Phase separately, and (iii) we cued self-rotations with a virtual human being (self-avatar) or an inanimate object (self-chair). Twenty-four nonclinical participants were categorized in low- and high-schizotypal subjects (Low-S, High-S). A mixed-design analysis of variance showed that High-S were significantly faster than Low-S during the Imagined Rotation Phase (array and self-chair rotations) and during the Task Phase (self-chair). High-S were also faster in the self-chair than in the self-avatar rotation, supporting the existence of a dissociation between perspective changing and perspective taking in High-S. In line with the literature, we found that participant performances decreased with increasing angular difference between the initial and the imagined perspective.

arXiv:2001.03393v2, A classical battery converts chemical energy into a persistent voltage bias that can power electronic circuits. Similarly, a phase battery is a quantum device that provides a persistent phase bias to the wave function of a quantum circuit. It represents a key element for quantum technologies based on phase coherence. Here we demonstrate a phase battery in a hybrid superconducting circuit. It consists of an n-doped InAs nanowire with unpaired-spin surface states, that is proximitized by Al superconducting leads. We find that the ferromagnetic polarization of the unpaired-spin states is efficiently converted into a persistent phase bias φ0 across the wire, leading to the anomalous Josephson effect1,2. We apply an external in-plane magnetic field and, thereby, achieve continuous tuning of φ0. Hence, we can charge and discharge the quantum phase battery. The observed symmetries of the anomalous Josephson effect in the vectorial magnetic field are in agreement with our theoretical model. Our results demonstrate how the combined action of spin–orbit coupling and exchange interaction induces a strong coupling between charge, spin and superconducting phase, able to break the phase rigidity of the system., The work of E.S. was supported by a Marie Curie Individual Fellowship (MSCA-IFEF-ST no. 660532-SuperMag). E.S., N.L. and F.G. acknowledge partial financial support from the European Union’s Seventh Framework Programme (FP7/2007-2013)/ERC grant no. 615187-COMANCHE. E.S., A.I., O.D., N.L., F.S.B. and F.G. were partially supported by the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 800923 (SUPERTED). L.S. and V.Z. acknowledge partial support by the SuperTop QuantERA network and the FET Open And QC. I.V.T., C.S.F. and F.S.B. acknowledge financial support by the Spanish Ministerio de Ciencia, Innovacion y Universidades through projects no. FIS2014-55987-P, no. FIS2016-79464-P and no. FIS2017-82804-P and by the grant ‘Grupos Consolidados UPV/EHU del Gobierno Vasco (grant no. IT1249-19). A.B. thanks the CNR-CONICET cooperation programme ‘Energy conversion in quantum nanoscale hybrid devices’; the SNS-WIS joint laboratory QUANTRA, funded by the Italian Ministry of Foreign Affairs and International Cooperation; and the Royal Society through the international exchanges between the United Kingdom and Italy (grant no. IEC R2192166).

Hybrid superconductor/semiconductor devices constitute a powerful platform to investigate the emergence of new topological state of matter. Among all possible semiconductor materials, InAs represents a promising choice, owing to its high quality, large g-factor and spin-orbit component. Here, we report on InAs-based devices both in one-dimensional and two-dimensional configurations. In the former, low-temperature measurements on a suspended nanowire are presented, inspecting the intrinsic spin-orbit contribution of the system. In the latter, Josephson Junctions between two Nb contacts comprising an InAs quantum well are investigated. Supercurrent flow is reported, with Nb critical temperature up to T_c~8K. Multiple Andreev reflection signals are observed in the dissipative regime. In both systems, we show that the presence of external gates represents a useful knob, allowing for wide tunability and control of device properties, such as spin-orbit coherence length or supercurrent amplitude., 6 pages, 5 figures (Proceeding of the SPIE conference)