精神分裂症记忆功能的全基因组关联分析  

Genome-wide association study with memory measures as a quantitative trait locus for schizophrenia

作　　者：向波[1] 吴俊瑶[1] 马小红[1] 王英成[1] 邓伟[1] 陈壮飞[1] 李名立[1] 王强[1] 何宗岭[1] 蒋丽君[1] 李涛[1] 

机构地区：[1]四川大学华西医院精神医学研究室,生物治疗国家重点实验室,华西医院心理卫生中心,成都610041

出　　处：《中华医学遗传学杂志》2012年第3期255-259,共5页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（8113024,30530300,30125014）;科技部十二五支撑计划（2011BA202530）;973计划（2007CB512301）

摘　　要：目的用全基因组关联研究分析精神分裂症患者和对照组基因多态性位点与记忆功能的相关性，从而找出精神分裂症相关的基因位点。方法对98例首发精神分裂症患者和60名正常对照采用HumanHap660BeadArray芯片进行基因分型，共有464301个SNPs符合质量控制标准。以SNPs为分析因素，年龄、性别和受教育年限为协变量，瞬时记忆、延时记忆为数量性状，用PLINK软件分别对患病组和正常组进行主效应分析。结果5个易感基因，包括RASGRF2（rs401758，P=8．03×10^-5）、PLCG2（rs7185362，P=4．54×10^-5）、LMO1（rs484161，P=9．80×10^-7）、CSMD1（rs2469383；P=2．77×10^-6）以及PRKG1（rs7898516，P=6．94×10^-5）可能与记忆功能障碍有关。结论5个基因可能与精神分裂症的记忆功能缺陷相关。这些基因在精神分裂症的记忆功能以及神经系统发育中所起重要的作用可为下一步研究提供重要的线索。Objective To assess the association between gene polymorphisms and memory function through a genome-wide association study （GWAS） of schizophrenia and control group. Memory cognition was used as a quantitative trait （QT）. Methods Ninty-eight subjects with chronic schizophrenia and 60 matched controls were genotyped with HumanHap660 Bead Array. The results were correlated with quantitative traits including memory and memory delay. Results Five candidate genes, including RASGRF2 （rs401758, P：8.03×10-5）, PLCGZ （rs7185362, P：4.54×10-5）, LM01 （rs484161,P：9.80×10 7）, CSMD1 （rs2469383, P= 2. 77 ×10-6） and PRKG1 （rs7898516, P= 6. 94 ×10 5） were associated with memory cognition deficits. Conclusion Using memory cognition as a quantitative trait, this Genome-wide association study has identified 5 susceptibility loci. With their association with nervous system development, neuronal growth, axon guidance and plasticity, brain development, above loci may play a role in the development of memory dysfunction in schizophrenia.

关 键 词：精神分裂症 全基因组关联分析 记忆功能 数量性状 

分 类 号：R749.3[医药卫生—神经病学与精神病学]