Genetic association and identification of a functional SNP at GSK3 beta for schizophrenia susceptibility

KIZ OpenIR > 科研部门 > 比较基因组学（宿兵）

	Genetic association and identification of a functional SNP at GSK3 beta for schizophrenia susceptibility
	Li M 1,5; Mo Y 2; Luo XJ 1,5; Xiao X 1; Shi L 1,5; Peng YM 1,5; Qi XB 1; Liu XY 3; Yin LD 3; Diao HB 4; Sub B*1; sub@mail.kiz.ac.cn
	2011
发表期刊	SCHIZOPHRENIA RESEARCH
卷号	133 期号:1-3 页码:165-171
合作性质	其它
摘要	Objective: GSK3 beta is a key gene in neurodevelopment, and also an important target of antipsychotics. Several lines of evidence including association and gene expression studies have suggested GSK3 beta as a susceptibility gene for schizophrenia, but the underlying genetic mechanism is still unknown. In this study, we test whether the genetic variants in GSK3 beta contribute to the risk of schizophrenia in Chinese population. Methods: We first conducted an association analysis of 9 representative SNPs spanning the entire genomic region of GSK3 beta in two independent Han Chinese case-control samples from southwestern China (the Kunming sample and the Yuxi sample, a total of 2550 subjects).Then using EMSA and reporter gene assays, we tested the functional impact of the identified risk SNP on transcriptional factor binding affinity and promoter activity. Results: We observed weak allelic associations of three GSK3 beta SNPs (rs3755557, rs7431209 and rs13320980) with schizophrenia in the combined Han Chinese samples. Further analysis using genotypes (under recessive genetic model) supported the association of rs3755557 (p = 0.01, corrected), which is located in the GSK3 beta promoter region. The functional assays demonstrated that the risk SNP (rs3755557) could influence the transcription factor binding affinities, resulting in a higher promoter activity of the risk allele. Conclusion: Our findings suggest that GSK3 beta is likely a risk gene for schizophrenia, and its expression alteration caused by the risk SNP in the promoter region may contribute to the etiology of schizophrenia
关键词	Gsk3 Beta Schizophrenia Association Han Chinese Emsa Reporter Gene Assay
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/353002/6858
专题	科研部门_比较基因组学（宿兵）遗传资源与进化国家重点实验室科研部门_神经系统疾病（罗雄剑）科研部门_转化基因组（李明）
通讯作者	sub@mail.kiz.ac.cn
作者单位	1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China 2.Imaging Center, The First Affiliated Hospital of Kunming Medical College, Kunming, 650031, China 3.The Second People's Hospital of Yuxi City, Yuxi, 653101, China 4.Yunnan Mental Health Hospital, Kunming, 650224, China e Graduate School of Chinese Academy of Sciences, Beijing, 10 5.Graduate School of Chinese Academy of Sciences, Beijing, 100101, China
推荐引用方式 GB/T 7714	Li M,Mo Y,Luo XJ,et al. Genetic association and identification of a functional SNP at GSK3 beta for schizophrenia susceptibility[J]. SCHIZOPHRENIA RESEARCH,2011,133(1-3):165-171.
APA	Li M.,Mo Y.,Luo XJ.,Xiao X.,Shi L.,...&sub@mail.kiz.ac.cn.(2011).Genetic association and identification of a functional SNP at GSK3 beta for schizophrenia susceptibility.SCHIZOPHRENIA RESEARCH,133(1-3),165-171.
MLA	Li M,et al."Genetic association and identification of a functional SNP at GSK3 beta for schizophrenia susceptibility".SCHIZOPHRENIA RESEARCH 133.1-3(2011):165-171.

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