作者: Sylvia Bort Martí , Sven Cichon , Peter Propping , Markus Nöthen
DOI: 10.1002/AJMG.1624
关键词: Bipolar disorder 、 Psychosis 、 Transmission disequilibrium test 、 Population 、 Biology 、 Genetics 、 Allele frequency 、 Metabotropic glutamate receptor 3 、 Schizophrenia 、 Genetic predisposition
摘要: In the present study, we sought to identify genetic variation in metabotropic glutamate receptor 3 (GRM3) gene, which has been mapped chromosome 7q21.1-q21.2 [Scherer et al., 1996] and might contribute predisposition schizophrenia and/or bipolar affective disorder. Using single-strand conformation analysis (SSCA), screened complete coding sequence as well adjacent splice sites of GRM3 gene a sample 46 schizophrenic patients. We detected three variants: rare C/T substitution at nucleotide position +885 (T209T), +2130 (Y624Y), more common +1131 (A291A). The occurrence +1131C/T variant was investigated patients (n=283), (n=265), ethnically matched controls (n=227). observed significant overrepresentation +1131T allele when compared (P=0.0022). This finding followed up an independent (n=288) (n=162) 128 trios but could not be confirmed. It is therefore unlikely that this plays major role predisposing disorder least German population.