4 results
The role of single nucleotide polymorphisms within genes for oxytocin and vasopressin receptors in the presentation and severity of autistic traits
- K. M. Wilczyński, A. Auguściak-Duma, A. Stasik, L. Cichoń, A. Sieroń, M. Janas-Kozik
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S102
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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.
ObjectivesThe 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.
MethodsThe 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).
ResultsA 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.
ConclusionsThe 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 InterestNone Declared
Impact of selected single nucleotide polymorphisms in OXTR and AVPR1a genes on their expression in persons with ASD.
- K. M. Wilczyński, A. Auguściak-Duma, A. Stasik, L. Cichoń, A. Sieroń, M. Janas-Kozik
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S99
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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.
ObjectivesThe 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.
MethodsThe 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).
ResultsSignificant 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).
ConclusionsGenotype 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 InterestNone Declared
Association between single nucleotide polymorphisms in oxytocin and vasopressin receptor genes and symptom severity of autism spectrum disorder– preliminary study
- K. Wilczyński, L. Cichoń, A. Auguściak-Duma, A. Sieroń, M. Janas-Kozik
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- Journal:
- European Psychiatry / Volume 64 / Issue S1 / April 2021
- Published online by Cambridge University Press:
- 13 August 2021, pp. S83-S84
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Introduction
One of the defining features of autism spectrum disorder (ASD) are deficits in social interaction and communication. Although their etiology is poorly understood, several lines of evidence from studies on humans and rodents suggest that two nonapeptides – oxytocin and vasopressin – might play a pivotal role in their development.
ObjectivesTo evaluate if single nucleotide polimorphisms in OXTR and AVPR1A genes are linked to the severity of symptoms in autism spectrum disorder.
MethodsThe study was conducted on the group of 40 Caucasian males with average age of 14,22 (SD: 1,71) years. ADOS-2 examination was utilized for confirmation of ASD diagnosis as well as evaluation of symptoms severity in each patient. The genotyping of preselected SNPs for each gene (rs10877969; rs7294536; rs2254298; rs53576) was conducted.
Results“CC” genotype at rs7294536 (p=0,033) was significantly associated with higher outcomes of ADOS-2 especially in terms of social affect. In case of oxytocin receptor gene, frequency of “AA”/”AG” genotype at rs2254298 equaled 100% and of “AA”/”AG” genotype at rs53576 equaled 85% of the study group (expected “A” allele frequency in neurotypical European population was respectively 11% and 35% according to 1000Genomes database). For rs10877969 prevalence of “CC”/”CT” genotype equaled 95% while expected frequency of “C” allele in neurotypical European population was 13%.
ConclusionsOverrepresentation of minor alleles at rs2254298, rs53576 and rs10877969 in patients with ASD might indicate their link to development of ASD. Furthermore, significant association between minor allele at rs7294536 and symptoms severity suggest potential role of arginine-vasopressin receptor deficiency in clinical picture of ASD.
DisclosureNo significant relationships.
Cultural Animation as the Art of Remembering. The Activities of the “Borderland of Arts, Cultures and Nations” Centre in Sejny
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- By Dorota Sieroń-Galusek, Department for Cultural Education, Faculty of Ethnology and Educational Science Silesian University in Katowice
- Edited by Ewa Kocój, Jagiellonian University, Krakow, Łukasz Gaweł, Jagiellonian University, Krakow
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- Book:
- Faces of Identity and Memory
- Published by:
- Jagiellonian University Press
- Published online:
- 10 January 2018
- Print publication:
- 01 January 2015, pp 113-122
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Summary
Abstract: The author refers to the experience of the “Borderland of Arts, Cultures and Nations” Centre in Sejny, active on the Polish-Lithuanian borderland, and illustrates how the animation of culture can deal with the “difficult memories” present in Central and Eastern Europe, as well as how this work can support people in developing their identity. In this sense the animateur becomes a humanist – comprehensively educated, conscious of the intellectual and personal development of both him/herself and others. Having in mind the uniqueness of such undertaking, it is also important to notice that the original formula of such a center – developed according to its leaders’ personal ideas – may become an identifying mark of Polish culture.
Keywords: socio-cultural animation, culture of remembering, “Borderland of Arts, Cultures and Nations” Centre in Sejny
The “Borderland of Arts, Cultures and Nations” Centre in Sejny was founded by Krzysztof and Małgorzata Czyżewski and Bożena and Wojciech Szroeder. Although its unique program (based on the creators’ original concept) aims at concentrating on history and memory in a specific place and within a specific community, its achievements and impact reach far beyond the local context. Today the “Borderland” Centre is a cultural laboratory of major importance and its methods and philosophy are an inspiration and model for similar undertakings throughout the world. Several awards, such as the Małe Berło Kultury Polskiej (The Little Scepter of Polish Culture, 1999), ProfessorAleksander Gieysztor's Award (2007), The Honorary Jerzy Giedroyć Award (2008) and in 2014 The Dan David Prize confirm the aforementioned. It is noteworthy that the latter prize is awarded for exceptional achievements in science, arts and social activities in relation to three time dimensions: Past, Present and Future. Every year, a particular theme is assigned to each dimension and the laureates are chosen from within these fields. In the year when Krzysztof Czyżewski was distinguished, the common theme was Memory/ Mind and the individual categories were: History and Memory (Past), Combating Memory Loss (Present) and Artificial Intelligence (Future). The co-founder of the “Borderland” Centre was the laureate in the Past category together with historians Pierre Nora and Saul Friedlander.