title: A screen of SLC1A1 for OCD-related alleles.
abstract: SLC1A1, which encodes the neuronal and epithelial glutamate transporter, is a promising candidate gene for obsessive-compulsive disorder (OCD). In this study, we conducted capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) screen for all 12 identified exons, including all coding regions and approximately 50 bp of flanking introns of the human SLC1A1 in 378 OCD-affected individuals. Full sequencing was completed on samples that showed an aberrant SSCP tracing for identification of the underlying sequence variants. Our aim was to determine if there are differences in the frequencies of relatively common alleles, or rare functional alleles, in 378 OCD cases and 281 ethnically matched controls. We identified one nonsynonymous coding SNP (c.490A > G, T164A) and three synonymous coding SNP (c.81G > C, A27A; c.414A > G, T138T; c.1110T > C, T370T) in case samples. We found no statistical differences in genotype and allele frequencies of common cSNPs in SLC1A1 between the OCD cases and controls. The rare variant T164A was found only in one family. Further investigation of this variant is necessary to determine whether and how it is related to OCD. There was no other evidence of significant accumulation of deleterious coding mutations in SLC1A1 in the OCD cases.
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: Y
authors: Y
authors: Wang
authors: Department of Pediatrics, School of Medicine, Mckusick-Nathan Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: A
authors: A
authors: Adamczyk
authors: Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.
authors: Y Y
authors: YY
authors: Shugart
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: J F
authors: JF
authors: Samuels
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: M A
authors: MA
authors: Grados
authors: Department of Psychiatry and Human Behavior, Brown Medical School, Butler Hospital, Providence, Rhode Island.
authors: B D
authors: BD
authors: Greenberg
authors: Department of Psychiatry, University of Southern California, Los Angeles, California.
authors: J A
authors: JA
authors: Knowles
authors: Department of Psychiatry and Biobehavioral Sciences, School of Medicine, University of California, Los Angeles, California.
authors: J T
authors: JT
authors: McCracken
authors: Department of Psychiatry and Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors: S L
authors: SL
authors: Rauch
authors: Laboratory of Clinical Science, NIMH, NIH, Bethesda, Maryland.
authors: D L
authors: DL
authors: Murphy
authors: Department of Psychiatry and Human Behavior, Brown Medical School, Butler Hospital, Providence, Rhode Island.
authors: S A
authors: SA
authors: Rasmussen
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: B
authors: B
authors: Cullen
authors: Department of Psychiatry, College of Physicians and Surgeons at Columbia University, New York, New York.
authors: A
authors: A
authors: Pinto
authors: Department of Psychiatry, College of Physicians and Surgeons at Columbia University, New York, New York.
authors: A J
authors: AJ
authors: Fyer
authors: Department of Psychiatry and Biobehavioral Sciences, School of Medicine, University of California, Los Angeles, California.
authors: J
authors: J
authors: Piacentini
authors: Department of Psychiatry and Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors: D L
authors: DL
authors: Pauls
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: O J
authors: OJ
authors: Bienvenu
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: M
authors: M
authors: Riddle
authors: Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.
authors: K Y
authors: KY
authors: Liang
authors: Department of Pediatrics, School of Medicine, Mckusick-Nathan Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: D
authors: D
authors: Valle
authors: Department of Pediatrics, School of Medicine, Mckusick-Nathan Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: T
authors: T
authors: Wang
authors: Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
authors: G
authors: G
authors: Nestadt
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D050580:Excitatory Amino Acid Transporter 3 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D009771:Obsessive-Compulsive Disorder / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D012737:Sex Factors
chemical_list: D050580:Excitatory Amino Acid Transporter 3; C493400:SLC1A1 protein, human