Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese

CORC > 昆明动物研究所 > 昆明动物研究所 > 遗传资源与进化国家重点实验室 > 比较基因组学

	Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese
	Luo XJ 1,2,4; Diao HB 3; Wang JK 1,2,4; Zhang H 1,2; Zhao ZM 5; Su B[*]1,2
刊名	JOURNAL OF MEDICAL GENETICS
	2008
卷号	45 期号:12 页码:818-826
ISSN号	0022-2593
通讯作者	sub@mail.kiz.ac.cn
合作状况	其它
英文摘要	Background: Schizophrenia is a complex genetic disorder caused by multiple genetic and environmental factors. Several lines of linkage and association studies have repeatedly suggested that the chromosome 5q22-33 region is implicated in the aetiology of schizophrenia. However, most of the previous studies on the linkage of 5q22-33 with schizophrenia were from European populations, and it was not well characterised in other populations. Methods: We analysed eight single nucleotide polymorphisms (SNPs) located in the 5q23.3 region in a cohort of 506 schizophrenia patients and 672 control subjects from south western China. Single marker association, haplotypic association, sex-specific association and molecular evolutionary analysis were performed. Results: Single marker analysis indicated that SNP5 (rs1355095) in LOC728637 is associated with schizophrenia. When males and females were analysed separately, SNP4 (rs31251) in PDZ-GEF2 is associated with schizophrenia in females. Further analysis using haplotypes demonstrated that a haplotype block spanning PDZ-GEF2, LOC728637 and ACSL6 is highly associated with schizophrenia and several haplotypes in this haploblock have about twofold to 10-fold increase in the affected subjects. In addition, molecular evolutionary analysis suggests that PDZ-GEF2 has undergone adaptive evolution due to Darwinian positive selection in the human lineage. Conclusion: Our data provide evidence of the association of 5q22-33 with schizophrenia in Han Chinese. This chromosomal region is likely responsible for genetic susceptibility to schizophrenia, supporting previous data from European patients. In addition, our evolutionary analysis is consistent with the hypothesis that genes contributing to schizophrenia are likely under positive selection during human evolution.
资助信息	This study was supported by grants from the National 973 project of China (2006CB701506,2007CB815705), the Chinese Academy of Sciences (KSCX1-YW-R- 34), the National Natural Science Foundation of China (30370755, 30525028 and 30630013), and the Natural Science Foundation of Yunnan Province of China.
原文出处	200845818.pdf
语种	英语
公开日期	2010-08-24
内容类型	期刊论文
源URL	[http://159.226.149.42:8088/handle/152453/2165]
专题	昆明动物研究所_比较基因组学昆明动物研究所_遗传资源与进化国家重点实验室昆明动物研究所_神经系统疾病昆明动物研究所_中国科学院昆明灵长类研究中心
作者单位	1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 2.Kunming Primate Research Centre, Chinese Academy of Sciences, Kunming, China; 3.Yunnan Mental Health Hospital, Kunming, China 4.Graduate School of Chinese Academy Sciences, Beijing, China; 5.Virginia Institute for Psychiatric and Behavioral Genetics and Center for the Study of Biological Complexity, Virginia Commonwealth University, Richmond, USA
推荐引用方式 GB/T 7714	Luo XJ,Diao HB,Wang JK,et al. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese[J]. JOURNAL OF MEDICAL GENETICS,2008,45(12):818-826.
APA	Luo XJ,Diao HB,Wang JK,Zhang H,Zhao ZM,&Su B[*].(2008).Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese.JOURNAL OF MEDICAL GENETICS,45(12),818-826.
MLA	Luo XJ,et al."Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese".JOURNAL OF MEDICAL GENETICS 45.12(2008):818-826.