A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders / Soo-Jeong KIM in Molecular Autism, (May 2011)  

Public ISBD [article]  inMolecular Autism > (May 2011) . - 48 p. Titre : A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders Type de document : texte imprimé Auteurs : Soo-Jeong KIM, Auteur ; Raquel M. SILVA, Auteur ; Cindi G. FLORES, Auteur ; Suma JACOB, Auteur ; Stephen GUTER, Auteur ; Gregory VALCANTE, Auteur ; Annette M. ZAYTOUN, Auteur ; Edwin H. Jr COOK, Auteur ; Judith A. BADNER, Auteur Année de publication : 2011 Article en page(s) : 48 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background SLC25A12 was previously identified in a linkage directed association analysis in autism. In this study, we investigated the relationship between three SLC25A12 single nucleotide polymorphisms (SNPs) (rs2056202, rs908670 and rs2292813) and restricted repetitive behavior (RRB) traits in autism spectrum disorders (ASDs), based on a positive correlation between the G allele of rs2056202 and an RRB subdomain score on the Autism Diagnostic Interview-Revised (ADI-R). Methods We used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our UIC-UF sample (179 unrelated individuals), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 families). Results In the UIC-UF sample, three RBS-R scores (ritualistic/sameness/sum) showed positive associations with the A allele of rs2292813 (p=0.006-0.012), and with rs2056202-rs2292813 haplotype (omnibus test p=0.025-0.040). The SSC sample revealed positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped/sameness/restricted/sum, p=0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped/self-injurious/sum, p=0.003-0.015), and between rs2056202-rs2292813 haplotype and RBS-R scores (stereotyped/self-injurious/compulsive/sameness/restricted/sum, omnibus test p=0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP-phenotype association varied in each dataset. Conclusions This study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from the initial study. This may be because of the examined SLC25A12 SNPs being in linkage disequilibrium (LD) with another risk allele as well as genetic/phenotypic heterogeneity of the ASD samples across studies. En ligne : http://dx.doi.org/10.1186/2040-2392-2-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=131 [article] A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders [texte imprimé] / Soo-Jeong KIM, Auteur ; Raquel M. SILVA, Auteur ; Cindi G. FLORES, Auteur ; Suma JACOB, Auteur ; Stephen GUTER, Auteur ; Gregory VALCANTE, Auteur ; Annette M. ZAYTOUN, Auteur ; Edwin H. Jr COOK, Auteur ; Judith A. BADNER, Auteur . - 2011 . - 48 p. Langues : Anglais (eng) in Molecular Autism > (May 2011) . - 48 p. Index. décimale : PER Périodiques Résumé : Background SLC25A12 was previously identified in a linkage directed association analysis in autism. In this study, we investigated the relationship between three SLC25A12 single nucleotide polymorphisms (SNPs) (rs2056202, rs908670 and rs2292813) and restricted repetitive behavior (RRB) traits in autism spectrum disorders (ASDs), based on a positive correlation between the G allele of rs2056202 and an RRB subdomain score on the Autism Diagnostic Interview-Revised (ADI-R). Methods We used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our UIC-UF sample (179 unrelated individuals), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 families). Results In the UIC-UF sample, three RBS-R scores (ritualistic/sameness/sum) showed positive associations with the A allele of rs2292813 (p=0.006-0.012), and with rs2056202-rs2292813 haplotype (omnibus test p=0.025-0.040). The SSC sample revealed positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped/sameness/restricted/sum, p=0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped/self-injurious/sum, p=0.003-0.015), and between rs2056202-rs2292813 haplotype and RBS-R scores (stereotyped/self-injurious/compulsive/sameness/restricted/sum, omnibus test p=0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP-phenotype association varied in each dataset. Conclusions This study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from the initial study. This may be because of the examined SLC25A12 SNPs being in linkage disequilibrium (LD) with another risk allele as well as genetic/phenotypic heterogeneity of the ASD samples across studies. En ligne : http://dx.doi.org/10.1186/2040-2392-2-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=131

Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome / Cindi G. FLORES in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Titre : Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome Type de document : texte imprimé Auteurs : Cindi G. FLORES, Auteur ; Gregory VALCANTE, Auteur ; Stephen GUTER, Auteur ; Annette ZAYTOUN, Auteur ; Emily WRAY, Auteur ; Lindsay BELL, Auteur ; Suma JACOB, Auteur ; Mark H. LEWIS, Auteur ; Daniel J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur Article en page(s) : p.316-24 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome [texte imprimé] / Cindi G. FLORES, Auteur ; Gregory VALCANTE, Auteur ; Stephen GUTER, Auteur ; Annette ZAYTOUN, Auteur ; Emily WRAY, Auteur ; Lindsay BELL, Auteur ; Suma JACOB, Auteur ; Mark H. LEWIS, Auteur ; Daniel J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur . - p.316-24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

---

1 (1 - 2 / 2) Par page : 25 50 100 200