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Association and Promoter Analysis of AVPR1A in Finnish Autism Families / Katri KANTOJARVI in Autism Research, 8-5 (October 2015)
[article]
Titre : Association and Promoter Analysis of AVPR1A in Finnish Autism Families Type de document : Texte imprimé et/ou numérique Auteurs : Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur Article en page(s) : p.634-639 Langues : Anglais (eng) Mots-clés : autism AVPR1A association transcription factors network analysis promoter analysis MEF2C PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Autism Research > 8-5 (October 2015) . - p.634-639[article] Association and Promoter Analysis of AVPR1A in Finnish Autism Families [Texte imprimé et/ou numérique] / Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur . - p.634-639.
Langues : Anglais (eng)
in Autism Research > 8-5 (October 2015) . - p.634-639
Mots-clés : autism AVPR1A association transcription factors network analysis promoter analysis MEF2C PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes / Tanya L. PROCYSHYN in Autism Research, 10-5 (May 2017)
[article]
Titre : Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : Tanya L. PROCYSHYN, Auteur ; Peter L. HURD, Auteur ; Bernard CRESPI, Auteur Article en page(s) : p.750-756 Langues : Anglais (eng) Mots-clés : attention autism quotient autism spectrum avpr1a microsatellite analysis rs1 rs3 vasopressin Index. décimale : PER Périodiques Résumé : Variation in the AVPR1a gene, which codes for a receptor for the neurohormone vasopressin, has been found to relate to autism risk. Interestingly, variation in this gene also relates to differences in social behaviour in non-clinical populations. Variation in this gene may affect expression of AVPR1a receptors in brain areas involved in social behaviour. Here, we tested whether AVPR1a variation was associated with Autism Quotient (AQ) scores, a questionnaire that measures non-clinical manifestations of autism, in a population of 873 healthy university students. The AVPR1a RS1 and RS3 microsatellites were examined, and variants were categorized as “long” or “short”. The RS3 long/long genotype was significantly associated with a higher AQ score (i.e., a more autistic-like phenotype) for the combined population and for females only. Further examination showed that this relationship was due to a specific RS3 variant, termed the “target allele”, which previous research has linked to reduced altruism and increased marital problems in healthy individuals. We also observed that the relationship between RS3 genotype and AQ score was mainly due to the “attention switching” (the ability to shift attention from one task to another) component of the questionnaire; this ability is commonly impaired in autism spectrum disorders. Overall, our study establishes continuity between the existing AVPR1a research in clinical and non-clinical populations. Our results suggest that vasopressin may exert its effects on social behaviour in part by modulating attentional focus between social and non-social cues. En ligne : http://dx.doi.org/10.1002/aur.1716 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307
in Autism Research > 10-5 (May 2017) . - p.750-756[article] Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes [Texte imprimé et/ou numérique] / Tanya L. PROCYSHYN, Auteur ; Peter L. HURD, Auteur ; Bernard CRESPI, Auteur . - p.750-756.
Langues : Anglais (eng)
in Autism Research > 10-5 (May 2017) . - p.750-756
Mots-clés : attention autism quotient autism spectrum avpr1a microsatellite analysis rs1 rs3 vasopressin Index. décimale : PER Périodiques Résumé : Variation in the AVPR1a gene, which codes for a receptor for the neurohormone vasopressin, has been found to relate to autism risk. Interestingly, variation in this gene also relates to differences in social behaviour in non-clinical populations. Variation in this gene may affect expression of AVPR1a receptors in brain areas involved in social behaviour. Here, we tested whether AVPR1a variation was associated with Autism Quotient (AQ) scores, a questionnaire that measures non-clinical manifestations of autism, in a population of 873 healthy university students. The AVPR1a RS1 and RS3 microsatellites were examined, and variants were categorized as “long” or “short”. The RS3 long/long genotype was significantly associated with a higher AQ score (i.e., a more autistic-like phenotype) for the combined population and for females only. Further examination showed that this relationship was due to a specific RS3 variant, termed the “target allele”, which previous research has linked to reduced altruism and increased marital problems in healthy individuals. We also observed that the relationship between RS3 genotype and AQ score was mainly due to the “attention switching” (the ability to shift attention from one task to another) component of the questionnaire; this ability is commonly impaired in autism spectrum disorders. Overall, our study establishes continuity between the existing AVPR1a research in clinical and non-clinical populations. Our results suggest that vasopressin may exert its effects on social behaviour in part by modulating attentional focus between social and non-social cues. En ligne : http://dx.doi.org/10.1002/aur.1716 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307 Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees / A. WEISS in Autism Research, 14-9 (September 2021)
[article]
Titre : Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees Type de document : Texte imprimé et/ou numérique Auteurs : A. WEISS, Auteur ; Vanessa A. D. WILSON, Auteur ; W. D. HOPKINS, Auteur Article en page(s) : p.1843-1853 Langues : Anglais (eng) Mots-clés : Animals Autism Spectrum Disorder/genetics Autistic Disorder/genetics Genotype Pan troglodytes/genetics Receptors, Vasopressin/genetics Social Behavior Avpr1a autism development mother primate vasopressin Index. décimale : PER Périodiques Résumé : Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species. En ligne : http://dx.doi.org/10.1002/aur.2550 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449
in Autism Research > 14-9 (September 2021) . - p.1843-1853[article] Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees [Texte imprimé et/ou numérique] / A. WEISS, Auteur ; Vanessa A. D. WILSON, Auteur ; W. D. HOPKINS, Auteur . - p.1843-1853.
Langues : Anglais (eng)
in Autism Research > 14-9 (September 2021) . - p.1843-1853
Mots-clés : Animals Autism Spectrum Disorder/genetics Autistic Disorder/genetics Genotype Pan troglodytes/genetics Receptors, Vasopressin/genetics Social Behavior Avpr1a autism development mother primate vasopressin Index. décimale : PER Périodiques Résumé : Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species. En ligne : http://dx.doi.org/10.1002/aur.2550 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449