Introduction
Autism spectrum disorder is a heterogeneous group of disorders that affects virtually every population, regardless of their ethnic or socioeconomic origin. In recent years, the attention ...of researchers has been drawn to the participation of the oxytocinergic and vasopressinergic systems in the development of autism spectrum disorders. A relatively large number of studies have investigated the association of SNPs in these genes with the development of ASD, however, there is a lack of studies in the literature focusing on their actual effect on expression and on the effect of their expression on the risk of ASD.
Objectives
The aim of this study was to assess the levels of expression of OXTR and AVPR1a genes and evaluate their links with both risk of ASD and genotypes of the most studied polymorphisms.
Methods
The study included 132 people, 77.5% of whom were male (n = 100). 113 participants (85.6%) were diagnosed with autism spectrum disorders confirmed by the ADOS-2 test conducted by a certified diagnostician. In this group, men constituted 76.1% of the population (n = 77). The remaining 28 people did not have a diagnosis of autism spectrum disorders, and in the ADOS-2 study they obtained the result below the cut-off level. The mean age in the whole group was 14.4 years (95% CI: 13.92-14.93).
Results
Significant decrease in expression of the OXTR gene was found in case of rs53576 where presence of the alternative allele (G) was linked to the 20% decrease in expression (2^(-ΔΔCt) = 0.8). In case of AVPR1a alternative allele (T) of SNP rs10877969 was linked to the 20% increase in the gene expression(2^(-ΔΔCt) = 1.197). SNPs rs2254298 (2^(-ΔΔCt) = 0.97) and rs7294536 (2^(-ΔΔCt) = 0.97) did not influence expression of the appropriate genes in significant way. In comparison between the test and control group in participants with confirmed diagnosis of ASD 13% lower expression of AVPR1a was found (2^(-ΔΔCt) = 0.87).
Conclusions
Genotype of SNPs rs53576 and rs10877969 significantly influenced the levels of expression of the genes OXTR and AVPR1a respectively. In case of rs2254298 and rs7294536 observed effects were negligible. Presence of ASD diagnosis was linked to the 13% lower expression of AVPR1a. Abnormalities in AVPR1a expression seem to be more important for the development of autistic traits than the more attention-grabbing gene abnormalities for the oxytocinergic system.
Disclosure of Interest
None Declared
Introduction
Autism spectrum disorder is a heterogeneous group of disorders that affects virtually every population, regardless of their ethnic or socioeconomic origin. The pathogenesis of ASD is ...probably multifactorial, based on interactions between genetic and environmental factors. Their key elements are disorders in the field of social communication, establishing and maintaining relationships and the so-called stereotypical and repetitive patterns of interests and activities. However, of the above- mentioned symptoms, the most important are communication disorders, which are the basis for many of the functional difficulties observed in these patients.
Objectives
The aim of the presented study was to analyze the clinical picture of social cognition deficits in males with autism spectrum disorders, and to link its elements with the frequency of alleles of selected polymorphisms within the OXTR and AVPR1A genes.
Methods
The study included 132 people, 77.5% of whom were male (n = 100). 113 participants (85.6%) were diagnosed with autism spectrum disorders confirmed by the ADOS-2 test conducted by a certified diagnostician. In this group, men constituted 76.1% of the population (n = 77). The remaining 28 people did not have a diagnosis of autism spectrum disorders, and in the ADOS-2 study they obtained the result below the cut-off level. The mean age in the whole group was 14.4 years (95% CI: 13.92-14.93).
Results
A higher frequency of the rs53576 A allele and the rs10877969 C allele could be observed than expected on the basis of the European / world population. In the case of the rs7294536 and rs2254298 polymorphisms, no differences in the distribution of alleles in relation to the expected values were observed. In the network analysis reference allele (T) of SNPs rs10877969 was linked to the higher outcome of the “social affect” domain of ADOS-2 and through it influenced ADOS-2 outcome. All other SNPs did not significantly affect neither domain of ADOS-2. Reference allele (A) of rs53576 was linked with higher odds ratio of clinical diagnosis of ASD in logistic regression. Similarly the rs10877969 polymorphism within the AVPR1a gene significantly shaped the risk of autism spectrum disorders, while in the combined analysis with rs7294536 within the haplotype, the observed effect was significantly stronger.
Conclusions
The studied polymorphisms may constitute an element of larger haplotypes which, depending on the number of mutated alleles, may determine the severity of autism spectrum traits, from the neurotypical population, through people with a broad autism phenotype, to people diagnosed with ASD. Further research is required on the potential clinical application of genotype analysis of the studied polymorphisms and on the exact mechanism of their impact on the risk of ASD and the development of social cognition disorders.
Disclosure of Interest
None Declared
Display omitted
•VUV-FT and VIS-FT complementary, high-resolution techniques were used for registration of 5 ro-vibronic bands in 12C18O.•The deperturbation analysis of the A1Π(v = 3) level in 12C18O ...based on 571 line frequencies was performed.•A significant, indirect a3Π(v = 14) ∼ e3Σ−(v = 6) ∼ A1Π(v = 3) and aʹ3Σ+(v = 14) ∼ A1Π(v = 3) ∼ e3Σ–(v = 6) influences were detected.•Within the 12C18O A1Π(v = 3) level, 5 newly observed spin–orbit and rotation-electronic interactions were analysed.•112 ro-vibronic term values of the A1Π(v = 3, Jmax = 55), aʹ3Σ+(v = 13), D1Δ(v = 4) and I1Σ–(v = 5) levels were determined..
Research on 12C18O was carried out using two complementary Fourier-transform methods: (1) vacuum-ultraviolet absorption spectroscopy, with an accuracy ca. 0.03 cm−1 on the DESIRS beamline (SOLEIL synchrotron) and (2) visible emission spectroscopy with an accuracy of about 0.005–0.007 cm−1 by means of the Bruker IFS 125HR spectrometer (University of Rzeszów). The maximum rotational quantum number of the energy levels involved in the observed spectral lines was Jmax = 54. An effective Hamiltonian and the term-value fitting approach were implemented for the precise analysis of the A1Π(v = 3) level in 12C18O. It was performed by means of the PGOPHER code. The data set consisted of 571 spectral lines belonging to the A1Π-X1Σ+(3, 0), B1Σ+-A1Π(0, 3), C1Σ+-A1Π(0, 3) bands and several lines involving states that perturb the A1Π(v = 3) level as well as to the previously analysed B1Σ+-X1Σ+(0, 0) and C1Σ+-X1Σ+(0, 0) transitions. A significantly extended quantum–mechanical description of the A1Π(v = 3) level in 12C18O was provided. It consists of the 5 new unimolecular interactions of the spin–orbit and rotation-electronic nature, which had not been taken into account previously in the literature. The ro-vibronic term values of the A1Π(v = 3, Jmax = 55), aʹ3Σ+(v = 13), D1Δ(v = 4) and I1Σ–(v = 5) levels were determined with precision improved by a factor of 10 relative to the previously known values.
Between 2011 March and 2014 August Swift responded to 20 triggers from the IceCube neutrino observatory, observing the IceCube 50 per cent confidence error circle in X-rays, typically within 5 h of ...the trigger. No confirmed counterpart has been detected. We describe the Swift follow-up strategy and data analysis and present the results of the campaign. We discuss the challenges of distinguishing the X-ray counterpart to a neutrino trigger from serendipitous uncatalogued X-ray sources in the error circle, and consider the implications of our results for future strategies for multimessenger astronomy, with particular reference to the follow-up of gravitational wave triggers from the advanced-era detectors.
Between 2011 March and 2014 August Swift responded to 20 triggers from the IceCube neutrino observatory, observing the IceCube 50% confidence error circle in X-rays, typically within 5 hours of the ...trigger. No confirmed counterpart has been detected. We describe the Swift follow up strategy and data analysis and present the results of the campaign. We discuss the challenges of distinguishing the X-ray counterpart to a neutrino trigger from serendipitous uncatalogued X-ray sources in the error circle, and consider the implications of our results for future strategies for multi-messenger astronomy, with particular reference to the follow up of gravitational wave triggers from the advanced-era detectors.
Forty patients, hospitalized in order to undergo the planned cholecystectomy were investigated with the help of self-evaluation questionnaire after Spielberger et al. The patients were divided ...according to the age, into two groups, each of them including 20 persons: Group I-13 women and 7 men above 60 (61-84) Group II-15 women and 5 men below 60 (19-57) The patients filled the questionnaire two days before the operation as well as the day before going home. Preoperational examination did not show any significant differences in fear intensification between two groups. Fear did not also depend upon the sex of the patients. Significantly higher (p < 0.001) level of fear was noticed in Group I at the time of medical examination before going home. The reason is most probably the elderly people's uncertainty concerning their physical efficiency with in many cases is necessary for them to survive. The seniors are also afraid of both compulsory dieting and limiting their life activities.
Between 2011 March and 2014 August Swift responded to 20 triggers from the IceCube neutrino observatory, observing the IceCube 50 per cent confidence error circle in X-rays, typically within 5 h of ...the trigger. No confirmed counterpart has been detected. We describe the Swift follow-up strategy and data analysis and present the results of the campaign. We discuss the challenges of distinguishing the X-ray counterpart to a neutrino trigger from serendipitous uncatalogued X-ray sources in the error circle, and consider the implications of our results for future strategies for multimessenger astronomy, with particular reference to the follow-up of gravitational wave triggers from the advanced-era detectors.
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