Literature DB >> 17894412

Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.

Jeremy M Silverman1, Joseph D Buxbaum, Nicolas Ramoz, James Schmeidler, Abraham Reichenberg, Eric Hollander, Gary Angelo, Christopher J Smith, Lauren A Kryzak.   

Abstract

Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. In 355 ASD cases from 170 sibships we examined levels of the four traits in these SNPs using ANCOVA models. The primary models selected unrelated affected cases and used age and sex as covariates. An ancillary set of models used all affected siblings and included "sibship" as a random effects independent variable. We found significantly lower levels of routines and rituals associated with the presence of the less frequent A allele in rs2056206. No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders. Copyright 2007 Wiley-Liss, Inc.

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Year:  2008        PMID: 17894412     DOI: 10.1002/ajmg.b.30614

Source DB:  PubMed          Journal:  Am J Med Genet B Neuropsychiatr Genet        ISSN: 1552-4841            Impact factor:   3.568


  26 in total

Review 1.  Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis.

Authors:  Yuta Aoki; Samuele Cortese
Journal:  Mol Neurobiol       Date:  2015-02-10       Impact factor: 5.590

Review 2.  Physiological and pathological roles of mitochondrial SLC25 carriers.

Authors:  Manuel Gutiérrez-Aguilar; Christopher P Baines
Journal:  Biochem J       Date:  2013-09-15       Impact factor: 3.857

3.  The effect of an autism-associated polymorphism in the STK39 gene on the autism symptom domains.

Authors:  Rick D Vavolizza; James Schmeidler; Nicolas Ramoz; Joseph D Buxbaum; Christopher J Smith; Jeremy M Silverman
Journal:  J Autism Dev Disord       Date:  2012-02

Review 4.  Consensus paper: pathological role of the cerebellum in autism.

Authors:  S Hossein Fatemi; Kimberly A Aldinger; Paul Ashwood; Margaret L Bauman; Charles D Blaha; Gene J Blatt; Abha Chauhan; Ved Chauhan; Stephen R Dager; Price E Dickson; Annette M Estes; Dan Goldowitz; Detlef H Heck; Thomas L Kemper; Bryan H King; Loren A Martin; Kathleen J Millen; Guy Mittleman; Matthew W Mosconi; Antonio M Persico; John A Sweeney; Sara J Webb; John P Welsh
Journal:  Cerebellum       Date:  2012-09       Impact factor: 3.847

Review 5.  The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism.

Authors:  Valerio Napolioni; Antonio M Persico; Vito Porcelli; Luigi Palmieri
Journal:  Mol Neurobiol       Date:  2011-06-21       Impact factor: 5.590

6.  Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders.

Authors:  Takeshi Sakurai; Nicolas Ramoz; Marta Barreto; Mihaela Gazdoiu; Nagahide Takahashi; Michael Gertner; Nathan Dorr; Miguel A Gama Sosa; Rita De Gasperi; Gissel Perez; James Schmeidler; Vivian Mitropoulou; H Carl Le; Mihaela Lupu; Patrick R Hof; Gregory A Elder; Joseph D Buxbaum
Journal:  Biol Psychiatry       Date:  2009-12-16       Impact factor: 13.382

7.  Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders.

Authors:  Somer L Bishop; Vanessa Hus; Amie Duncan; Marisela Huerta; Katherine Gotham; Andrew Pickles; Abba Kreiger; Andreas Buja; Sabata Lund; Catherine Lord
Journal:  J Autism Dev Disord       Date:  2013-06

Review 8.  Genetics of autistic disorders: review and clinical implications.

Authors:  Christine M Freitag; Wouter Staal; Sabine M Klauck; Eftichia Duketis; Regina Waltes
Journal:  Eur Child Adolesc Psychiatry       Date:  2009-11-26       Impact factor: 4.785

9.  Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders.

Authors:  Dale S Cannon; Hilary Coon; Judith S Miller; Reid J Robison; Michele E Villalobos; Natalie K Wahmhoff; Kristina Allen-Brady; William M McMahon
Journal:  Mol Autism       Date:  2010-02-22       Impact factor: 7.509

Review 10.  Advances in autism genetics: on the threshold of a new neurobiology.

Authors:  Brett S Abrahams; Daniel H Geschwind
Journal:  Nat Rev Genet       Date:  2008-05       Impact factor: 53.242

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