Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans

被引：64
作者：
Itokawa, M
Yamada, K
Iwayama-Shigeno, Y
Ishitsuka, Y
Detera-Wadleigh, S
Yoshikawa, T
机构：
[1] RIKEN, Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama 3510198, Japan
[2] Tokyo Inst Psychiat, Dept Schizophrenia Res, Tokyo 1568585, Japan
[3] NIMH, Mood & Anxiety Disorders Program, Bethesda, MD 20892 USA
来源：
NEUROSCIENCE LETTERS | 2003年 / 345卷 / 01期
关键词：
N-methyl-D-aspartate receptor 2A subunit; short tandem repeat; pedigree disequilibrium test; family-based association; linkage; schizophrenia;
D O I：
10.1016/S0304-3940(03)00501-9
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Hypofunction of glutamatergic neurotransmission has been hypothesized to underlie the pathophysiology of bipolar affective disorder, as well as schizophrenia. We examined the role of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene on 16p13.3, a region thought to be linked to bipolar disorder, (1) because in a prior study we identified a functional and polymorphic (GT)n repeat in the 5' regulatory region of the gene, with longer alleles showing lower transcriptional activity and an over representation in schizophrenia, and (2) because of the suggestion of a genetic overlap between affective disorder and schizophrenia. Family-based association tests detected a nominally significant preferential transmission of longer alleles in a panel of 96 multiplex bipolar pedigrees. These results support the hypothesis that a hypoglutamatergic state is involved in the pathogenesis of bipolar affective disorder. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.
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收藏
页码：53 / 56
页数：4
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