A screen of SLC1A1 for OCD-related alleles

Y. Wang; A. Adamczyk; Y. Y. Shugart; J. F. Samuels; M. A. Grados; B. D. Greenberg; J. A. Knowles; J. T. McCracken; S. L. Rauch; D. L. Murphy; S. A. Rasmussen; B. Cullen; A. Pinto; A. J. Fyer; J. Piacentini; D. L. Pauls; O. J. Bienvenu; M. Riddle; K. Y. Liang; D. Valle; T. Wang; G. Nestadt

doi:10.1002/ajmg.b.31001

A screen of SLC1A1 for OCD-related alleles

Y. Wang, A. Adamczyk, Y. Y. Shugart, J. F. Samuels, M. A. Grados, B. D. Greenberg, J. A. Knowles, J. T. McCracken, S. L. Rauch, D. L. Murphy, S. A. Rasmussen, B. Cullen, A. Pinto, A. J. Fyer, J. Piacentini, D. L. Pauls, O. J. Bienvenu, M. Riddle, K. Y. Liang, D. ValleT. Wang, G. Nestadt

School of Medicine

Research output: Contribution to journal › Article › peer-review

39 Scopus citations

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 ∼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 non-synonymous 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.

Original language	English (US)
Pages (from-to)	675-679
Number of pages	5
Journal	American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume	153
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.b.31001
State	Published - Mar 2010

Keywords

OCD
Polymorphism
SLC1A1

ASJC Scopus subject areas

Genetics(clinical)
Psychiatry and Mental health
Cellular and Molecular Neuroscience

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10.1002/ajmg.b.31001

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Wang, Y., Adamczyk, A., Shugart, Y. Y., Samuels, J. F., Grados, M. A., Greenberg, B. D., Knowles, J. A., McCracken, J. T., Rauch, S. L., Murphy, D. L., Rasmussen, S. A., Cullen, B., Pinto, A., Fyer, A. J., Piacentini, J., Pauls, D. L., Bienvenu, O. J., Riddle, M., Liang, K. Y., ... Nestadt, G. (2010). A screen of SLC1A1 for OCD-related alleles. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 675-679. https://doi.org/10.1002/ajmg.b.31001

Wang, Y, Adamczyk, A, Shugart, YY, Samuels, JF, Grados, MA, Greenberg, BD, Knowles, JA, McCracken, JT, Rauch, SL, Murphy, DL, Rasmussen, SA, Cullen, B, Pinto, A, Fyer, AJ, Piacentini, J, Pauls, DL, Bienvenu, OJ, Riddle, M, Liang, KY, Valle, D , Wang, T & Nestadt, G 2010, 'A screen of SLC1A1 for OCD-related alleles', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, vol. 153, no. 2, pp. 675-679. https://doi.org/10.1002/ajmg.b.31001

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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 ∼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 non-synonymous 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.",

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AU - McCracken, J. T.

AU - Rauch, S. L.

AU - Murphy, D. L.

AU - Rasmussen, S. A.

AU - Cullen, B.

AU - Pinto, A.

AU - Fyer, A. J.

AU - Piacentini, J.

AU - Pauls, D. L.

AU - Bienvenu, O. J.

AU - Riddle, M.

AU - Liang, K. Y.

AU - Valle, D.

AU - Wang, T.

AU - Nestadt, G.

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A screen of SLC1A1 for OCD-related alleles

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Keywords

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