Abstract | BACKGROUND: METHODS: We conducted a case-control study to investigate the association between the GRIN1 gene, which encodes the NR1 subunit, and the risk of schizophrenia in a northern Chinese Han population using Sanger DNA sequencing. The dual luciferase reporter assay was used to detect the influence of two different haplotypes on GRIN1 gene expression. RESULTS: Seven SNPs (single nucleotide polymorphisms), including rs112421622 (- 2019 T/C), rs138961287 (- 1962--1961insT), rs117783907 (-1945G/T), rs181682830 (-1934G/A), rs7032504 (-1742C/T), rs144123109 (-1140G/A), and rs11146020 (-855G/C) were detected in the study population. Rs117783907 (-1945G/T) was associated with the occurrence of schizophrenia as a protective factor. The genotype frequencies of rs138961287 (- 1962--1961insT) and rs11146020 (-855G/C) were statistically different between cases and controls (p < 0.0083). The other four variations were not shown to be associated with the disease. Two haplotypes were composed of the seven SNPs, and distribution of T-del-G-G-C-G-G was significantly different between the case and control groups. However, the dual luciferase reporter assay showed that neither of the haplotypes affected luciferase expression in HEK-293 and SK-N-SH cell lines. CONCLUSIONS: The GRIN1 gene may be related to the occurrence of schizophrenia. Additional research will be needed to fully ascertain the role of GRIN1 in the etiology of schizophrenia.
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Authors | Yong-Ping Liu, Mei Ding, Xi-Cen Zhang, Yi Liu, Jin-Feng Xuan, Jia-Xin Xing, Xi Xia, Jun Yao, Bao-Jie Wang |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 20
Issue 1
Pg. 26
(01 31 2019)
ISSN: 1471-2350 [Electronic] England |
PMID | 30704411
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- GRIN1 protein, human
- Nerve Tissue Proteins
- Receptors, N-Methyl-D-Aspartate
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Topics |
- Adult
- Asian People
(ethnology, genetics)
- Case-Control Studies
- Female
- Gene Frequency
- Genetic Association Studies
- Genetic Predisposition to Disease
- HEK293 Cells
- Haplotypes
- Humans
- Male
- Middle Aged
- Nerve Tissue Proteins
(genetics)
- Polymorphism, Single Nucleotide
- Receptors, N-Methyl-D-Aspartate
(genetics)
- Regulatory Elements, Transcriptional
- Schizophrenia
(ethnology, genetics)
- Sequence Analysis, DNA
(methods)
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