7 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
Characterisation of age and polarity at onset in bipolar disorder
- Janos L. Kalman, Loes M. Olde Loohuis, Annabel Vreeker, Andrew McQuillin, Eli A. Stahl, Douglas Ruderfer, Maria Grigoroiu-Serbanescu, Georgia Panagiotaropoulou, Stephan Ripke, Tim B. Bigdeli, Frederike Stein, Tina Meller, Susanne Meinert, Helena Pelin, Fabian Streit, Sergi Papiol, Mark J. Adams, Rolf Adolfsson, Kristina Adorjan, Ingrid Agartz, Sofie R. Aminoff, Heike Anderson-Schmidt, Ole A. Andreassen, Raffaella Ardau, Jean-Michel Aubry, Ceylan Balaban, Nicholas Bass, Bernhard T. Baune, Frank Bellivier, Antoni Benabarre, Susanne Bengesser, Wade H Berrettini, Marco P. Boks, Evelyn J. Bromet, Katharina Brosch, Monika Budde, William Byerley, Pablo Cervantes, Catina Chillotti, Sven Cichon, Scott R. Clark, Ashley L. Comes, Aiden Corvin, William Coryell, Nick Craddock, David W. Craig, Paul E. Croarkin, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Srdjan Djurovic, Howard J. Edenberg, Mariam Al Eissa, Torbjørn Elvsåshagen, Bruno Etain, Ayman H. Fanous, Frederike Fellendorf, Alessia Fiorentino, Andreas J. Forstner, Mark A. Frye, Janice M. Fullerton, Katrin Gade, Julie Garnham, Elliot Gershon, Michael Gill, Fernando S. Goes, Katherine Gordon-Smith, Paul Grof, Jose Guzman-Parra, Tim Hahn, Roland Hasler, Maria Heilbronner, Urs Heilbronner, Stephane Jamain, Esther Jimenez, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, John R. Kelsoe, James L. Kennedy, Tilo Kircher, George Kirov, Sarah Kittel-Schneider, Farah Klöhn-Saghatolislam, James A. Knowles, Thorsten M. Kranz, Trine Vik Lagerberg, Mikael Landen, William B. Lawson, Marion Leboyer, Qingqin S. Li, Mario Maj, Dolores Malaspina, Mirko Manchia, Fermin Mayoral, Susan L. McElroy, Melvin G. McInnis, Andrew M. McIntosh, Helena Medeiros, Ingrid Melle, Vihra Milanova, Philip B. Mitchell, Palmiero Monteleone, Alessio Maria Monteleone, Markus M. Nöthen, Tomas Novak, John I. Nurnberger, Niamh O'Brien, Kevin S. O'Connell, Claire O'Donovan, Michael C. O'Donovan, Nils Opel, Abigail Ortiz, Michael J. Owen, Erik Pålsson, Carlos Pato, Michele T. Pato, Joanna Pawlak, Julia-Katharina Pfarr, Claudia Pisanu, James B. Potash, Mark H Rapaport, Daniela Reich-Erkelenz, Andreas Reif, Eva Reininghaus, Jonathan Repple, Hélène Richard-Lepouriel, Marcella Rietschel, Kai Ringwald, Gloria Roberts, Guy Rouleau, Sabrina Schaupp, William A Scheftner, Simon Schmitt, Peter R. Schofield, K. Oliver Schubert, Eva C. Schulte, Barbara Schweizer, Fanny Senner, Giovanni Severino, Sally Sharp, Claire Slaney, Olav B. Smeland, Janet L. Sobell, Alessio Squassina, Pavla Stopkova, John Strauss, Alfonso Tortorella, Gustavo Turecki, Joanna Twarowska-Hauser, Marin Veldic, Eduard Vieta, John B. Vincent, Wei Xu, Clement C. Zai, Peter P. Zandi, Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group, International Consortium on Lithium Genetics (ConLiGen), Colombia-US Cross Disorder Collaboration in Psychiatric Genetics, Arianna Di Florio, Jordan W. Smoller, Joanna M. Biernacka, Francis J. McMahon, Martin Alda, Bertram Müller-Myhsok, Nikolaos Koutsouleris, Peter Falkai, Nelson B. Freimer, Till F.M. Andlauer, Thomas G. Schulze, Roel A. Ophoff
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- Journal:
- The British Journal of Psychiatry / Volume 219 / Issue 6 / December 2021
- Published online by Cambridge University Press:
- 25 August 2021, pp. 659-669
- Print publication:
- December 2021
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Background
Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
AimsTo examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
MethodGenome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
ResultsEarlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
ConclusionsAAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
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.
Correlation between Cognitive Functions, Axiety and Quality of Life in Schizophrenia
- K. Krysta, A. Kozmin, J. Kafel, L. Cichon, I. Krupka-Matuszczyk
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- Journal:
- European Psychiatry / Volume 24 / Issue S1 / January 2009
- Published online by Cambridge University Press:
- 16 April 2020, 24-E1156
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The purpose of the research was to find a relationship between selected cognitive functions and anxiety in relation to the quality of life in subjective assessment in schizophrenic patients. the study encompassed a group of patients hospitalized and continuing the treatment after the hospitalization in an outpatient setting. the battery of cognitive neuropsychological tests used to assess cognitive functions included: trail making test, and Stroop test. the intensity of anxiety as state and trait was assessed with the Spielberger State-Trait Anxiety Inventory (STAI).The patients were also requested to fill in the Life Quality Scale questionnaire and the questionnaire of the Frankfort Scale of mental and physical state. the results were analyzed statistically. In the examined group statistically significant relation was found between the results of measuring psychomotor speed, visual-spatial working memory, as well as intensity of anxiety as trait in a group of patients who have a negative opinion about the quality of their life. the correlation between negative opinion only about contacts with friends or eating meals was found in the group with anxiety as trait-was not found among the patients with psychomotor disruption. the above correlations between cognitive and executive tests results show how important are that interactions in the process of constructing a good rehabilitation program for patients with schizophrenia.
P0153 - Correlation of functioning and self feeling in schizophrenia
- J. Kafel, M. Derejczyk, L. Cichon, A. Arczynska, K. Krysta, I. Krupka-Matuszczyk
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- Journal:
- European Psychiatry / Volume 23 / Issue S2 / April 2008
- Published online by Cambridge University Press:
- 16 April 2020, p. S125
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Background:
In the treatment of patients with schizophrenia on of the most important goals is achieving a proper quality of life. It is interesting what is the relation between the self-feeling of the patients in terms of their psychopathological symptoms, and the quality of their lives.
Aims:The purpose of our research was establishing the degree of satisfaction with their lives among patients suffering from schizophrenia. We have also analyzed correlation between the intensity of clinical symptoms and satisfaction with life.
Methods used:Fifteen patients participated in our research, among them 8 were male and 7 were females, the age scope was from 22 to 63 years old and the average age was 40.
The patients were asked to fill in the Quality of Life Scale (Q Scale) . They filled in also the questionnaire of the Frankfurt Self-feeling Scale (FBS).
Results:Correlation between intensity of clinical symptoms and life quality: The patients assessed the intensity of each of 36 clinical symptoms on the scale from 0 to 3.The results varied from 1 to 108 with the middle score of 80.The correlation degrees between intensity of clinical symptoms and general satisfaction with life were calculated for every symptom. Strong negative correlation was observed between satisfaction with life and: emotional withdrawal, lack of emotion, losing one's self control, lack of concentration, oversensitivity and apathy.
Conclusions:It seems interesting that there is a strong correlation between satisfaction of life and those of the psychopathological symptoms, which are referred to as negative symptoms.
Occurrence of pyrethroid resistance mutation in Cydia pomonella (Lepidoptera: Tortricidae) throughout Argentina
- J. Soleño, L.B. Parra-Morales, L. Cichón, S. Garrido, N. Guiñazú, C.M. Montagna
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- Journal:
- Bulletin of Entomological Research / Volume 110 / Issue 2 / April 2020
- Published online by Cambridge University Press:
- 23 August 2019, pp. 201-206
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Pyrethroid insecticides were intensively used against Cydia pomonella in the Río Negro and Neuquén valley, main production area of pome fruits in Argentina. Therefore, the first objective was to evaluate lambda-cyhalothrin resistance levels in C. pomonella larvae from orchards in this area that are currently under pyrethroids treatments. The second objective was to evaluate the frequency of kdr mutation in C. pomonella across Argentina. High levels of resistance to lambda-cyhalothrin (resistance ratios > 30) were determined in all the populations evaluated. The L1014F (kdr) mutation was evaluated in 355 diapausing larvae collected in 12 orchards from San Juan to Santa Cruz provinces (1690 km away from each other). The highest frequency of kdr mutation was determined in larvae from the Río Negro and Neuquén valley (0.61), followed by those from Mendoza (0.36). The kdr allele was absent or present at very low frequencies in orchards subjected to low pyrethroid pressure. The frequency of detection of kdr mutation in C. pomonella from Argentina is related to the use of pyrethroids against this pest in different areas. Target-site insensitivity is, at least, one of the mechanisms involved in resistance to lambda-cyhalothrin in codling moth from the Río Negro and Neuquén valley.