Abstract |
In the present study, we sought to identify genetic variation in the metabotropic glutamate receptor 3 (GRM3) gene, which has been mapped to chromosome 7q21.1-q21.2 [Scherer et al., 1996] and might contribute to genetic predisposition to schizophrenia and/or bipolar affective disorder. Using single-strand conformation analysis (SSCA), we screened the complete coding sequence as well as adjacent splice sites of the GRM3 gene in a sample of 46 bipolar affective and 46 schizophrenic patients. We detected three sequence variants: a rare C/T substitution at nucleotide position +885 (T209T), a C/T substitution at nucleotide position +2130 (Y624Y), and a more common C/T substitution at nucleotide position +1131 (A291A). The occurrence of the +1131C/T variant was investigated in a sample of bipolar affective patients (n=283), schizophrenic patients (n=265), and ethnically matched controls (n=227). We observed a significant overrepresentation of the +1131T allele in schizophrenic patients when compared to controls (P=0.0022). This finding was followed up in an independent sample of schizophrenic patients (n=288) and controls (n=162) and 128 schizophrenic trios but could not be confirmed. It is therefore unlikely that this variant plays a major role in predisposing to schizophrenia and/or bipolar affective disorder at least in the German population.
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Authors | Sylvia Bort Martí, Sven Cichon, Peter Propping, Markus Nöthen |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 114
Issue 1
Pg. 46-50
(Jan 08 2002)
ISSN: 0148-7299 [Print] United States |
PMID | 11840505
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright 2001 Wiley-Liss, Inc. |
Chemical References |
- Receptors, Metabotropic Glutamate
- metabotropic glutamate receptor 3
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Topics |
- Bipolar Disorder
(etiology, genetics)
- Female
- Gene Frequency
- Genetic Variation
- Germany
- Humans
- Male
- Receptors, Metabotropic Glutamate
(genetics)
- Schizophrenia
(etiology, genetics)
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